26E7F511E9C44DFFD7F23D49E7875FB2
Ethical Reflection on Developments in Genetic Testing in Connection with Very High Throughput Human DNA Sequencing
https://www.ccne-ethique.fr/sites/default/files/publications/ccne_avis_124_engfinal.pdf
http://leaux.net/URLS/ConvertAPI Text Files/1AC8F6B1806C446EC8D618D7E00CA388.en.txt
Examining the file media/Synopses/1AC8F6B1806C446EC8D618D7E00CA388.html:
This file was generated: 2020-02-24 01:30:46
| Indicators in focus are typically shown highlighted in yellow; |
Peer Indicators (that share the same Vulnerability association) are shown highlighted in pink; |
"Outside" Indicators (those that do NOT share the same Vulnerability association) are shown highlighted in green; |
Trigger Words/Phrases are shown highlighted in gray. |
Link to Orphaned Trigger Words (Appendix (Indicator List, Indicator Peers, Trigger Words, Type/Vulnerability/Indicator Overlay)
Applicable Type / Vulnerability / Indicator Overlay for this Input
Political / Illegal Activity
Searching for indicator illegal:
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p.000053: protection) for data protection based on the same principles as those of the law dated December 6, 2013, which is a
p.000053: general ‘droit d’alerte’ for all crimes or offences. For instance, collective measures for the protection of personal
p.000053: data120 should be set up and it would also be important to reinforce the capability for individuals to control and use
p.000053: their own person-
p.000053:
p.000053: 118 Kuwait, for instance, was the first country to require all its residents to have on record identity docu-
p.000053: mentation based on DNA testing, on a compulsory basis. Such a decision would be illegal in Europe and contrary to
p.000053: the decisions of the European Court of Human Rights (CEDH). (sources:
p.000053: http://www.rfi.fr/moyen-orient/20150714-koweit-impose-fichage-adn-ensemble-population-test/)
p.000053: 119 Halpérin JL, « Protection de la vie privée et privacy : deux traditions juridiques différentes ? », Les Nou- veaux
p.000053: Cahiers du Conseil constitutionnel 2015/3 (N° 48), p. 59-68 ; Whitman J, “The Two Western Cultures of Privacy: Dignity
p.000053: v. Liberty”, The Yale Law Journal, 2004, 113, p. 1151-1221; Rosen J, The Unwanted Gaze: The Destruction of Privacy in
p.000053: America, New York, Vintage Books, 2000; Post RC, “Three Concepts of Priva- cy”, Georgetown Law Journal, 2001, 89, p.
p.000053: 2087,2098.
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Searching for indicator crime:
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p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
p.000023: Predisposed to violence?
p.000023:
p.000023: The late 19th century theories on ‘born criminals’ have trig- gered controversy and debate between studies claiming to
p.000023: support the notion of innate behaviour and those giving preference to psychological and sociological crime
p.000023: factors. The studies favouring innateness have served to support ‘genetic defence’ theories for
p.000023: criminal accountability or screening programmes for a potential ‘crime gene’ which apart from having
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
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p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
p.000023: genealogical research and claim respectively a hundred and twenty thousand and six hundred thousand clients”. (B
p.000023: Jordan. 2013. Med Sci (Paris); 29 : 1167–1170). The market is estimated as being worth US$250 million by 2018.
p.000023: 50 As regards criminal investigation, based on genetic material found on the crime scene, information can be extracted
p.000023: on the physical appearance of the unknown person (sex, eye, hair and skin colour, etc.). The
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p.000023: Opinion N° 124
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p.000024: 24
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p.000024: Nor should it be forgotten that the advent of new sequencing techniques could modify the scope of behavioural genetics,
p.000024: particularly as regards criminal investigation (see box).
p.000024:
p.000024: B- The legal context51
p.000024:
p.000024: At this time, two categories of rules apply:
p.000024:
p.000024: 1° French rules, most of them stemming from the 1994 bioethics laws52 on the principle of limit- ing the use of
p.000024: genetic tests to medical and scientific research53 purposes alone and on the organ- isation of the identification of
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Political / Political
Searching for indicator political:
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p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
p.000025: health care professionals”.
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p.000054: shared by a kinship group123. How, therefore, can procedures designed for an individual be used to manage what
p.000054: relates to several people?
p.000054: There is a need to distinguish between the case where a listing is of a purely private nature and could lead to
p.000054: commercial uses and the case where it responds to an a priori legitimate public health objective for the
p.000054: benefit of the community.
p.000054: Privacy infringements through the creation of genetic characteristics data bases are not, obvi- ously, only
p.000054: dangerous in themselves, but also because of the uses that could be made of them. To some extent, a data market
p.000054: already exists. Nor should the possibility be overlooked of their being put to use in certain parts of the world by
p.000054: repressive political regimes.
p.000054: Were improvements to public health by the use of collections of personal genetic data to be the only criteria, privacy
p.000054: protection could be seriously at risk and all the more so since epigenetics, that is personal history and behaviour,
p.000054: need to be known in order to arrive at a fair interpreta- tion of genetic data. If that were so, under the
p.000054: guise of advancing the cause of public health, there could be serious intrusions upon personal privacy so as to
p.000054: arrive at a more accurate be- havioural characterisation. It becomes clear that a contract of reciprocity between an
p.000054: individu-
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p.000056: also be protect- ed by such an agreement. Nevertheless, it would be difficult to maintain respect for the agree- ment
p.000056: over time in view of the evolutionary nature of the data, although the more the data evolved, the
p.000056: greater would be the need for the information it contains.
p.000056: Identifiable genetic information is permanent. It can be stored electronically, used over and over again,
p.000056: added to at any point in the life of individuals concerned, as a result of which they may be confronted with critical
p.000056: problems in their relations with the public (health) institution or the private company (commercial) storing the data
p.000056: or the community (political) wanting to use the date. This dependence on time and the multiplicity of players is
p.000056: representative of the differ- ence between genetic information and other medical data. The latter is only significant
p.000056: at the time it is imparted and within the confines of the doctor/patient dialogue.
p.000056: In view of the fallacious nature of the ‘anonymiszation’ of personal and genomic data in open- access databanks, can
p.000056: the community guarantee that the DNA I am trusting it with will stay uni- dentifiable? At the other end of the scale,
p.000056: should not individuals consent to take the risk that their private data does not remain anonymous, for example in the
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p.000058: 128 Marmot M. 2010. “Fair society, healthy lives”. Strategic review of health inequalities in England
p.000058: post- 2010.
p.000058: 129 It is worth noting that only 2.24% of current health expenditure was spent on prevention in France in 2014.
p.000058: http://www.irdes.fr/enseignement/chiffres-et-graphiques/depenses-de-sante/depense-courante-de- sante.html
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p.000058: Opinion N° 124
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p.000059: 59
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p.000059: ties due to people’s professions or where they live.
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p.000059: Should we not also investigate the nature of the scientific, political and mainly economic forces moving relentlessly
p.000059: in the direction of an increasingly technical management of health care? Ge- netic testing is only the tip of the
p.000059: iceberg, currently conspicuous because of the prodigious speed of its development.
p.000059: Human genomic research will only be a major asset for improving human health if it does not supplant clinical medicine
p.000059: and public health policy130, both of which are inseparable from health care.
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Searching for indicator party:
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p.000044: research, including inter alia the objectives, the length of time spent on the research, the impossibility of
p.000044: participating simul- taneously in another research project105.
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p.000044: 104 Missonnier S. (2006). Périnatalité prénatale, incertitude et anticipation. Adolescence ; 1 : 207-224.
p.000044: 105 Article L1122-1-1 “No biomedical research may be practised involving individuals without their free and informed
p.000044: consent, secured after the information listed under article L. 1121-1 has been provided to them. Consent
p.000044: is delivered in writing or, if that is not possible, witnessed by a third party. The latter must be entire- ly
p.000044: independent of the investigator and the instigator.”
p.000044:
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p.000044: Opinion N° 124
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p.000045: As in all cases of genetic study originating in clinical patient investigation, even though consent is obtained on the
p.000045: basis of true, sincere and welcome information, can we consider that consent was actually voluntary? When people
p.000045: are in a state of medical frailty, are they in a position where they can give free and informed consent
p.000045: committing themselves for the future? Should
p.000045: they be asked to consider receiving an in-
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p.000052: is part of a more general picture, that of personal data, health data in particular, which is stored in huge quantities
p.000052: and constantly shared, be it in the form of identifiers and banking particulars for example, or medical files, among
p.000052: others those stored by the French public health care system, although the special case of the ‘shared medical record’
p.000052: is one particularly sensitive aspect of the problem117. Because of the duty of confidentiality, no health care
p.000052: professional can publish information concerning a third party, even when the person concerned has already pub- lished
p.000052: the information.
p.000052: Since personal medical data is already protected, there is no overriding reason why human ge- nome sequencing should be
p.000052: made an exception to the general principles applicable to medical care as defined in articles 6 and 7 of the law dated
p.000052: January 6, 1978:
p.000052: • Purpose (legitimate and specific);
p.000052: • Proportionality (recording only pertinent and necessary information);
p.000052: • Pertinence of data (appropriate, pertinent and not superfluous in the light of stated objec- tives);
p.000052: • Limited duration (data stored in keeping with stated treatment objectives);
p.000052: • Safety and confidentiality (authorised staff, steps taken to safeguard data, preventing unau- thorised access);
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p.000064: health, so that each person is now individually responsible for his or her own health
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p.000064: 152 Article 6 of the Additional Protocol to the Convention on Genetic Testing for Health Purposes, May 7, 2008,
p.000064: referred to above.
p.000064: 153 Rapp. AN, n° 3403, May 11, 2011, 26, J. Leonetti.
p.000064: 154 Article L1133-4-1 of the Code of Public Health, reproducing Article 226-28-1 of the Criminal Code stat- ing that
p.000064: “a person requesting examination of his or her genetic characteristics or those of a third party […] except in the
p.000064: circumstances provided for by law, incurs a fine of €3,750”.
p.000064: 155 Genetic Tests for Health Purposes,
p.000064: Council of Europe, 2012, http://www.coe.int/t/dg3/healthbioethic/Source/fr_geneticTests_hd.pdf
p.000064: 156 F. Ewald, J-P Moreau, Génétique médicale, confidentialité et assurance, Revue Risques, n°18, 1994.
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p.000064: Opinion N° 124
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p.000065: 65
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p.000065: capital. Consequently, concealing information about poor health harms other insured people who are made to bear
p.000065: an unfair share of the burden and, at the same time, not being allowed to communicate information about
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Political / Trade Union Membership
Searching for indicator union:
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p.000025: 62 Articles 225-1 to 225-4 of the Code pénal.
p.000025: 63 The draft law also extended the prohibition of discrimination in recruitment, sanctions and dismissals as laid out
p.000025: in article L.122-45 of the Code du Travail (now Article L. 1132-1) to discrimination based on genetic characteristics.
p.000025: 64 A. Claeys, JO Débats AN 3 Oct. 2001, 5432: Amendment n°99, reproducing Article 1 of the draft law on bioethics. He
p.000025: was referring to the European Convention on Human Rights, without explicitly saying so.
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p.000025: Opinion N° 124
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p.000026: Finally, should be added to the above the rules set out by the Charter of Fundamental Rights of the European Union
p.000026: proclaimed on 7 December 2000 and later made binding by integration into the Treaty of Lisbon. The consecration of
p.000026: the Charter of Fundamental Rights expresses the Eu- ropean Union’s determination to ensure respect for these
p.000026: rights which thereafter became en- shrined in Union law “in accordance with the general principles common to the
p.000026: laws of the Mem- ber States”. Under the heading of “Protection of personal data, Article 8 states that “1. Everyone
p.000026: has the right to the protection of personal data concerning him or her. 2. Such data must be pro- cessed fairly for
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
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p.000026: specific patient metabolism or to be more precise, to fit a sub-group of patients.” 66 .
p.000026: It should not, however, be referred to as ‘personalised’ medicine if that is supposed to mean “a medicine which is
p.000026: closer to the patient, more intimate”; on the contrary, it “disincarnates the in- dividual as it codes for individual
p.000026: particularities” and enters the patient into a narrative that is not limited to that individual’s own person, but
p.000026: includes his or her ancestors and descendants. In this respect, a person’s autonomy may be destabilised insofar as the
p.000026: sharing of personal in- formation may become an obligation and new items of information may need to be taken into
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p.000026: 65 Charter of Fundamental Rights of the European Union, http://www.europarl.europa.eu/charter/pdf/text_fr.pdf
p.000026: 66 « La médecine personnalisée : un facteur de refonte des lois bioéthiques ? », Sophie Paricard
p.000026: Université Toulouse 1- Capitole Institut de droit privé CUFR J - F Champollion, Albi.
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p.000026: Opinion N° 124
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p.000027: consideration to make future personal decisions regarding behaviour and lifestyle, despite doubts about the
p.000027: information and the difficulty of its interpretation.
p.000027: It is true that, despite this uncertainty and the difficulty in interpreting genetic data, the unvary- ing nature of
p.000027: people’s DNA sequence throughout their whole life may give them the impression that such a sequence represents a firm
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p.000038: of the pregnancy. In this way, the iden- tification of risk would be shifted from the foetus to its future parents.
p.000038: This identification of couples at risk of giving birth to a child affected by a serious genetic
p.000038: disease, although it is already in use in cer- tain countries for certain diseases, raises extensive and
p.000038: delicate ethical issues, in particular because it amounts to establishing a kind of “genetic risk iden- tity
p.000038: card” with the dual danger of interference into plans for union between people who intend to have children
p.000038: and of classifying or categorising such peo-
p.000038: Generalised preconception diagnosis and direct access testing (DAT)
p.000038: •‘Amby Screen’ screens for 75 paediatric re- cessive or x-linked diseases.
p.000038: •‘23andMe’ provide a more extended test schedule, including, besides the genotyping of mutations causing
p.000038: monogenic diseases, testing for polymorphisms associated with ‘multifactorial’ diseases as well as a phar-
p.000038: macogenetic profile.
p.000038: •‘GenePeeks’ whose slogan claims that pro- tecting our children is in our DNA, has on of- fer a DNA analysis
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p.000069: legislation very belatedly by law n° 2004-801 of August 6th 2004169, as France feared a decline in in- dividual liberty
p.000069: and protection of privacy. This is in fact the case in particular for health related data for which processing is
p.000069: prohibited but which can be overturned by explicit consent on the part of the person concerned.
p.000069: However the legal framework was set up in 1995 at a time when use of the Internet was in its infan- cy. The rapid
p.000069: development of technologies facilitation the acquisition and sharing of data in a global context led the European Union
p.000069: to prefer “...a comprehensive, coherent, modern, high-level frame- work able to protect effectively individuals'
p.000069: fundamental rights, in particular privacy, with regard to any processing of personal data of individuals within and
p.000069: beyond the EU […] in order to face the nu- merous challenges facing data protection, such as those caused by
p.000069: globalisation, technological devel- opment, enhanced online activity, uses related to more and more activities. 170.
p.000069: These circumstances
p.000069: explain the choice made to edict a ruling rather than a directive so as to harmonise the rules applica- ble within the
p.000069: European Union “ ensuring coherence and high standards of data protection in the
p.000069: new setting offered by the entry into force […] of the now binding Charter of Fundamental Rights "
p.000069: 171.
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p.000069: According to the European Charter of Fundamental Rights, the protection of individuals with regard to the processing of
p.000069: personal data is a fundamental right, with a reference to which begins the draft ruling submitted to the European
p.000069: Parliament and the Council172. Similarly, in Opinion N° 3/2015173,
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p.000069: 167 For “...the level of protection of the rights and freedoms of individuals with regard to the processing of
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p.000069: the Council of Europe Convention of 28 January 1981”. 11th Recital of Directive 95/46/EC of 24 October 1995.
p.000069: 169 Law on the protection of individuals with regard to the processing of personal data with modification to law N°
p.000069: 78-17 of January 6th 1978 on Information Technology, Data Files and Civil Liberty.
p.000069: 170 European Parliament resolution of 6 July 2011 on a comprehensive approach on personal data
p.000069: protection in the European Union
p.000069: (2011/2025(INI)), http://www.europarl.europa.eu/sides/getDoc.do?pubRef=-//EP//TEXT+TA+P7-TA-2011-
p.000069: 0323+0+DOC+XML+V0//FR&language=FR
p.000069: 171 Ibid.
p.000069: 172 On 24th June 2015, the European Parliament, the Council and the European Commission entered into co-decision
p.000069: negotiations with regard to the proposal for a general regulation on data protection, a proce- dure known as an
p.000069: informal ‘trilogue’. The basis for the negotiation is the Commission’s proposals of Janu- ary 2012, the Parliament’s
p.000069: legislative resolution of 12th March 2014 and the Council’s General Approach adopted on 15th June 2015. The three
p.000069: institutions are committed to dealing with the general regulation as part of the wider reform package on data
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p.000070: ns/2015/15-07-27_GDPR_Recommendations_EN.pdf
p.000070: 174 CJUE C-362 14 Schrems v Data Protection Commissioner 6
p.000070: Oct. 2015, http://curia.europa.eu/juris/liste.jsf?num=C-362/14 et Conclusions Y. Bot,
p.000070: 23 Sept. 2015, http://curia.europa.eu/juris/document/document.jsf?text=&docid=168421&pageIndex=0&doclang=FR&
p.000070: mode=lst&dir=&occ=first&part=1&cid=326249
p.000070: 175 The French law on Information Technology, Data Files and Civil Liberty in a similar fashion states that “The data
p.000070: controller may not transfer personal data to a State that is not a Member of the European Union if this State does not
p.000070: provide a sufficient level of protection of individual privacy, liberties and fundamen- tal rights with regard to the
p.000070: actual or possible processing of their personal data” (Article 68); but it adds “However, the data controller may
p.000070: transfer the personal data to a State not satisfying the conditions pro- vided for in Article 68 if the data subject
p.000070: has expressly consented to their transfer...”.
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p.000070: Opinion N° 124
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p.000071: 71
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p.000071: trian citizen, Max Schrems, on Facebook since 2008, knew that, as was the case for other members residing in the
p.000071: European Union, his personal data was being transferred from Facebook’s Irish entity to servers in the United States
p.000071: where it is processed. Considering that his data was not adequately protected in the United States, he filed a
p.000071: complaint with the Irish Data Protection Commissioner who rejected it on the grounds that the Commission had
p.000071: found, in decision n° 2000/520/EC, that the United States provided adequate protection to transferred personal
p.000071: data. Max Schrems then filed an application for judicial review in the Irish High Court which then referred
p.000071: the case to the CJEU to judge whether the Commissioner was or was not bound by decision 2000/520.
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p.000071: European Commis- sion approval of the decision in 2000 did not prevent the protection authority of a member
p.000071: State from examining an individual’s request with regard to the protection of personal rights and liberties which had
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
p.000071: practices in force in that third country did not ensure a level of protection of fundamental rights equivalent to that
p.000071: guaranteed within the European Union.
p.000071: Although some of these rules are still being debated and others are invalidated, the data emerging from clinical
p.000071: medical practices and genetic research is currently regulated by the French law on In- formation Technology, Data Files
p.000071: and Civil Liberty; this refers to medical and genetic data and also data related to biomedical samples. The law
p.000071: prohibits the collection or processing of health related data176, of which genetic data177 is an integral part; but as
p.000071: an exception to this principle, it allows for the possibility of processing if the person concerned has given
p.000071: express consent178 ; similarly, pro- cessing based on genetic data cannot be used without authorisation but this is
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p.000079: CCNE’s thinking was that the ongoing and very rapid developments of human genomic technology can not be disregarded.
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p.000079: Opinion N° 124
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p.000080: 80
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p.000080: C- The international dimension
p.000080:
p.000080: In his 2015 State of the Union Address, the President of the United States confirmed his support for American science
p.000080: and research, in particular for ‘precision medicine’: “Tonight, I’m launching a new precision medicine initiative to
p.000080: bring us closer to curing diseases like cancer and diabetes—and to give all of us access to the
p.000080: personalized information we need to keep ourselves and our families healthier.” 185 This promising systemic
p.000080: medicine is strongly supported by American public opinion. The precision medicine concept put forward by President
p.000080: Obama is similar to ‘4P’ medicine: predic- tive, personalised, pre-emptive/preventive and participative186. It is a
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Health / Cognitive Impairment
Searching for indicator cognitive:
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p.000042: use towards usefulness for public health.
p.000042: Finally, in the face of a floodtide of genetic information, one risk for our future is that — apart from its
p.000042: trivialisation — is that it tends to become insistent, and even invasive beyond the ques- tions that we are actually
p.000042: asking of it. Such is the danger of tests that break out of their targeted objective, that technology inserts into a
p.000042: global approach, of so-called ‘full genome’ sequencing.
p.000042: 2- Misuse of genetic information and consequential risks
p.000042:
p.000042: The world over, whole population or very large cohort DNA sequencing initiatives are being launched, based
p.000042: on various demands ranging from pure cognitive research to short term clinical exploitation. A non exhaustive list
p.000042: could include:
p.000042: • The 100,000 genomes project in the United Kingdom (http://www.genomicsengland.co.uk/the-100000-genomes-project/).
p.000042: • The FarGen project aiming to sequence full genomes of the whole population of the Faroe Islands (50,000 people)
p.000042: (http://www.fargen.fo/en).
p.000042: • The recently launched “Precision Medicine” project, initiated by President Barak Obama with the intention of
p.000042: constituting a million person cohort contributing genetic and medi- cal genetic data
p.000042: (http://www.nih.gov/precisionmedicine/).
p.000042: • The “personal genome” project (PGP) which created as early as 2005 a free-access scien- tific resource collecting
...
p.000046: passed on to future generations but we have no control over what is transmitted nor over the
p.000046: ‘normality’ of what is transmitted.
p.000046:
p.000046:
p.000046:
p.000046:
p.000046: Opinion N° 124
p.000046:
p.000046:
p.000047: 47
p.000047:
p.000047: IV / Main issues arising out of this reflection
p.000047: Rapidly progressing technology in genetics inspired in CCNE the need to continue its considera- tion of the subject in
p.000047: the light of the generalisation of high throughput DNA sequencing and its impact on medicine and society. This
p.000047: technological progress with faster, cheaper and more reli- able analyses has become feasible thanks to considerable
p.000047: investment in cognitive research, par- ticularly by the public sector, together with technological breakthroughs
p.000047: brought about by the activities of the private sector. This represents an unprecedented opportunity for accelerating
p.000047: and augmenting our grasp of the living world and for improving the help we are able to give to those who are victims of
p.000047: its dysfunctions.
p.000047: As a result, what seemed to be no more than a technical process, i.e. full genome analysis, could challenge
p.000047: well-established practices or concepts, both medical and social, or could enter into conflict with
p.000047: national or international rules and regulations based on accepted values, thus opening a vast area of ethical
p.000047: debate.
...
Searching for indicator impaired:
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p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
p.000066: (interruption volontaire de grossesse pour motif thérapeutique - ITG) as allowed by the January 17, 1975 law N° 75-17.
p.000066: The rationale on which this was based was that parents who already have one disabled child fear the birth of another
p.000066: and only accept to contin- ue with pregnancy after test results confirm that their unborn child will be normal. The
p.000066: law accepts the possibility of therapeutic termination if the foetus is very seriously impaired and cannot be treat-
p.000066: ed, the object being to allow parents to entertain the hope of giving birth later to other healthy chil- dren.
p.000066: Originally, investigation for certain foetal pathologies was undertaken in response to the prob- lem posed by the
p.000066: absence of any known therapy: if diagnosis reveals a particularly severe condition with no known cure, parents were
p.000066: given the option of resorting to what was then called ‘voluntary termination for therapeutic reasons’ , later replaced
p.000066: by the wording ‘voluntary termination for medi- cal reasons’ (interruption volontaire de grossesse pour motif médical -
p.000066: IMG).
p.000066: Historically, it was the foetal karyotype test for chromosomal anomalies, trisomy 21 in particular, which
p.000066: introduced the prenatal diagnosis into medical practice; there was general agreement regard- ing the severity and the
...
Health / Drug Dependence
Searching for indicator dependence:
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p.000056: over time in view of the evolutionary nature of the data, although the more the data evolved, the
p.000056: greater would be the need for the information it contains.
p.000056: Identifiable genetic information is permanent. It can be stored electronically, used over and over again,
p.000056: added to at any point in the life of individuals concerned, as a result of which they may be confronted with critical
p.000056: problems in their relations with the public (health) institution or the private company (commercial) storing the data
p.000056: or the community (political) wanting to use the date. This dependence on time and the multiplicity of players is
p.000056: representative of the differ- ence between genetic information and other medical data. The latter is only significant
p.000056: at the time it is imparted and within the confines of the doctor/patient dialogue.
p.000056: In view of the fallacious nature of the ‘anonymiszation’ of personal and genomic data in open- access databanks, can
p.000056: the community guarantee that the DNA I am trusting it with will stay uni- dentifiable? At the other end of the scale,
p.000056: should not individuals consent to take the risk that their private data does not remain anonymous, for example in the
p.000056: context of the analysis of a co- hort’s data, if out of the genome sequencing of a very broad selection of the
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Health / Drug Usage
Searching for indicator influence:
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p.000015:
p.000015:
p.000016: 16
p.000016:
p.000016: lites or proteins in a blood or urine sample27. We could therefore avail ourselves of a set of pa- rameters
p.000016: characterising the global physiological status of an individual at a given point in time in a given environment.
p.000016: Phenotypes differ from genetic data in that they reflect the actual status of an individual (as op- posed to what can
p.000016: be deduced from a gene sequence) and that they are dynamic (varying with time and the environment) and therefore
p.000016: reversible, whereas genomes are relatively ‘immuta-
p.000016: ble’ throughout life.
p.000016:
p.000016: To the above can be associated ‘microbiome’ se- quencing, all the genomes of the multiple bacteria colonising our
p.000016: bodies and which have a consider- able influence on our physiological status. This also is eminently variable.
p.000016: It would therefore be possible to move on from biology restricted to the study of one or several genes and of a
p.000016: few bi- ochemical parameters to a more global biology embracing in a more integrated way the study of a network
p.000016: of molecules with an effect on the complexity of individuals and therefore of their diseases. Combining
p.000016: genome analysis (evaluat- ing a risk) and the collective measure of actual
p.000016: Microbiota or microbiome
p.000016: The intestinal microbiome is now under study as an organ in its own right (in particular, ‘faecal trans-
p.000016: plantation procedures’ are becoming a possibility) engaging in complex interaction with its host organ- ism (the
...
p.000024: with regard to the applications of biology and medicine: Convention on Human Rights and Biomedicine, signed in Oviedo
p.000024: on April 4, 1997 “ and Decree n° 2012-855 of July 5, 2012) and, therefore ap- plicable in French law, by virtue of
p.000024: article 55 of the Constitution of October 4, 1958: “duly ratified or ap- proved treaties or agreements once published
p.000024: have authority superior to that of laws ...”.
p.000024:
p.000024:
p.000024:
p.000024: Opinion N° 124
p.000024:
p.000024:
p.000025: 25
p.000025:
p.000025: standards for the protection of the dignity of the human person in relation to biomedical scienc- es”58.
p.000025: To understand their significance, the mutual influence on each other of these two categories of rules must be kept in
p.000025: mind. On the one hand, the adoption in 1994 of the laws on bioethics stat- ing “the general principles underpinning
p.000025: the legal status of the human body in order to ensure the dignity of human beings and the protection of the
p.000025: integrity of the genetic heritage59, and thereby of the human species” and setting out “a legal
p.000025: framework for the use made of genetic tests and of genetic identification tests, so as to protect the fundamental
p.000025: rights of individuals” put France in a position where the it could play a leading role in the drafting of the Oviedo
p.000025: Conven- tion; but on the other hand, precisely because the use of genetic testing was specifically linked to the
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p.000027: on forums; in this way, the notion of ‘family reunion’ seems close, in this respect, to that of ‘friend’ on certain
p.000027: social networks.
p.000027: Nevertheless, the rigorous parting of ways between recreational and medical aspects is not so easy to order. There is
p.000027: a degree of ambivalence insofar as recreational activities may be very rapidly challenged by more or less
p.000027: significant genetic discoveries, with varying measures of medical predictive potential.
p.000027: 2- Increasing merchandisation of technology
p.000027:
p.000027: Although at this point we have only a partial view of the way in which genetic factors influence the risk of what we
p.000027: call common ailments, we are already seeing massive financial investment in molecular genomic centres which are
p.000027: infrastructures aiming to improve the efficiency and above all the quality of their clients’ DNA acquisition and
p.000027: sequencing and clinical characteristics. There is fierce competition to be in the best position for playing a key role
p.000027: in the development of new medical approaches based on genomics and thereby benefiting from the huge financial returns
p.000027: generated by, for instance, a totally new therapy.
p.000027: “Internationally, estimates put forward by Illumina for the clinical oncology NGS market total some ten billion dollars
p.000027: distributed over clinical and companion diagnostics (eight billion), one billion for genetic predisposition testing and
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Searching for indicator substance:
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p.000069: Parliament and the Council172. Similarly, in Opinion N° 3/2015173,
p.000069:
p.000069:
p.000069: 167 For “...the level of protection of the rights and freedoms of individuals with regard to the processing of
p.000069: such data (to) be equivalent in all Member States” there was a need to “remove the obstacles to flows of per- sonal
p.000069: data” (8th Recital, Directive 95/46/EC, October 24th 1995.
p.000069: 168 Hence the statement that “Whereas the principles of the protection of the rights and freedoms of individ- uals,
p.000069: notably the right to privacy, which are contained in this Directive, give substance to and amplify those contained in
p.000069: the Council of Europe Convention of 28 January 1981”. 11th Recital of Directive 95/46/EC of 24 October 1995.
p.000069: 169 Law on the protection of individuals with regard to the processing of personal data with modification to law N°
p.000069: 78-17 of January 6th 1978 on Information Technology, Data Files and Civil Liberty.
p.000069: 170 European Parliament resolution of 6 July 2011 on a comprehensive approach on personal data
p.000069: protection in the European Union
p.000069: (2011/2025(INI)), http://www.europarl.europa.eu/sides/getDoc.do?pubRef=-//EP//TEXT+TA+P7-TA-2011-
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Health / Health
Searching for indicator health:
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p.000001:
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p.000001: National Consultative Ethics Committee for Health and Life Sciences
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p.000001: OPINION N° 124
p.000001:
p.000001: Ethical Reflection on Developments in Genetic Testing in Connection with Very High Throughput Human DNA
p.000001: Sequencing
p.000001:
p.000001:
p.000001:
p.000001:
p.000001: Opinion published on January 21st 2016
p.000001:
p.000001:
p.000001:
p.000001: Opinion N° 124
p.000001:
p.000001:
p.000002: 2
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p.000003: de Formation Thérapeutique du Généraliste (SFTG) (Society for GP therapy training)
p.000003: Roger BESSIS: Sonographer, former President of the Collège
p.000003: français
p.000003: d’échographie fœtale (French College of Foetal Ultrasonology)
p.000003: Louis BUJAN: President of the Centres d’Etude et de Conservation des Œufs et du
p.000003: Sperme (CECOS). Groupe de Recherche en Fertilité Humaine (Centre for the study and conservation of ova and sperm.
p.000003: Human fertility research group); Paule de Viguier University Teaching Hospital, TOULOUSE
p.000003: Anne CAMBON-THOMSEN: Research Supervisor, CNRS, M.D. specialising in human immunoge-
p.000003: netics, Inserm - Paul Sabatier University, Epidemiology and public health analyses, Toulouse
p.000003: Françoise CLERGET-DARPOUX: Research Supervisor, Inserm, Inserm/Université U 781, Hôpital
p.000003: Necker - Enfants Malades, Paris
p.000003: Alexandra DURR: Hospital Practitioner, genetic counselling for hereditary neurologi-
p.000003: cal diseases. Genetics Department. Salpêtrière Hospital, Paris
p.000003: Romain FAVRE: University Professor - Hospital Practitioner, Coordinator of the Cen-
p.000003: tre pluridisciplinaire de diagnostic prénatal, Strasbourg Multidisci- plinary Centre of Prenatal Diagnosis
p.000003: Jérôme LEJEUNE Foundation: Jean-Marie LE MENE, President, and Henri BLEHAUT, Research Di-
p.000003: rector
p.000003: Stanislas LYONNET: University Professor - Hospital Practitioner, Institut
p.000003: Imagine
...
p.000003: de recherche en droit des sciences et des techniques (Research Centre for Science and Technology (UMR8056,
p.000003: Université Paris 1)
p.000003: Nicole PHILIP: University Professor - Hospital Practitioner, Genetics
p.000003: Department,
p.000003: La Timone Hospital, Marseilles
p.000003:
p.000003:
p.000003:
p.000003: Opinion N° 124
p.000003:
p.000003:
p.000004: 4
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p.000004:
p.000004:
p.000004: Dominique POLTON: Counsellor to the Director General of the Caisse nationale d'assur-
p.000004: ance maladie des travailleurs salariés (CNAMTS), (National employ- ee sickness insurance system), President,
p.000004: Commission des comptes de la santé (Public health accounts Commission)
p.000004: Michel VIDAUD: University Professor - Hospital Practitioner, Director of EA7331 Gé-
p.000004: nétique, physiopathologie et approches thérapeutiques des mala- dies héréditaires du système nerveux
p.000004: (Genetics, physiopathology and therapeutic approach to hereditary disease of the nervous sys- tem)- Paris Descartes
p.000004: University, member of the CNAMTS scientific council.
p.000004: Géraldine VIOT: Paediatrician, geneticist, Paris Centre Teaching Hospital - Groupe
p.000004: hospitalier Cochin St Vincent de Paul, Cochin Hospital, 75014 Paris
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p.000005: .................. p. 8
p.000005: II/ How does the current context modify ethical reflection on human genomics? p. 11
p.000005: A. The Scientific
p.000005: context.................................................................................................................
p.000005: .............. p. 11
p.000005: 1- Genetics, between science and practice
p.000005: ............................................................................................. p. 12
p.000005: 2- Biological complexity and genetic determinism
p.000005: ................................................................................ p. 13
p.000005: 3- The limits of genomics: the contribution of epigenetics
p.000005: .................................................................... p. 14
p.000005: 4- From genotype to phenotype with regard to health and welfare .....................................................
p.000005: p. 15
p.000005: 5- What data and what
p.000005: risks?..................................................................................................................
p.000005: p. 17
p.000005: a- A change of scale in time and in quantity.
p.000005: .................................................................................................. p. 17
p.000005: b- The uncertainties of sequencing: the challenges of quality and
p.000005: interpretation............................................ p. 18
p.000005: c- The challenge of data management.
p.000005: ............................................................................................................ p. 19
p.000005: 6- Fields of
...
p.000006: .................................................................... p. 50
p.000006: 5 The physician’s place and role
p.000006: .............................................................................................................. p. 51
p.000006: B. Reflection needed on respect and protection of privacy
p.000006: .......................................................................p. 52
p.000006: 1- Legal protection for personal data
p.000006: ..................................................................................................... p. 52
p.000006: 2- Limitations on the use made of personal data
p.000006: ................................................................................... p. 53
p.000006: 3- The public health/privacy relationship
p.000006: ............................................................................................... p. 54
p.000006: 4- Modifications to information and consent procedures
p.000006: ..................................................................... p. 55
p.000006: 5- Reconciling shared data and
p.000006: privacy................................................................................................... p. 56
p.000006: C. The risk that genetics could ‘take over’ the preventive component of public health ........................... p.
p.000006: 58 V / Annexes
p.000006: ........................................................................................................................
p.000006: ............................ p. 60 A. Analysis of the legal
p.000006: context.................................................................................................................
p.000006: ... p. 60
p.000006: 1- Examination of genetic characteristics
p.000006: .............................................................................................. p. 60
p.000006: a- Genetic testing for medical purposes
p.000006: ............................................................................................................p. 60
p.000006: b- Disallowing the use of genetic test results which could lead to discrimination
p.000006: ............................................ p. 64
p.000006: 2- Prenatal diagnosis
...
p.000007: do so-called whole2 genome sequencing than to select short regions of in- terest for targeted sequencing. At this
p.000007: time, such developments could, and in fact should, be the subject of a progress report. Identifying a mutation or
p.000007: another genomic anomaly (of a chromo- some for instance) causing a disease is a necessary scientific and medical first
p.000007: step so that the expectations of families falling victim to a genetic disease can be satisfied (‘naming the disease’ is
p.000007: part of the therapeutic process3). It is also the gateway to perceiving, in the medium or the longer term,
p.000007: possibilities for treatment or even the cure of diagnosed genetic diseases or disabil- ities.
p.000007: Genomics in this era of very high throughput DNA sequencing plays a role in the creation of gi- gantic health related
p.000007: data bases (‘big data’) raising considerable ethical challenges, particularly as regards the right to privacy.
p.000007: Furthermore, growing knowledge and understanding of the ge- nome pave the way for increasingly specific and
p.000007: sophisticated procedures involving human DNA4, which cannot fail to raise vast ethical issues both as regards
p.000007: somatic cells (cellular gene therapy) and reproductive or embryonic cells (germ cell gene therapy). CCNE has already
p.000007: start- ed on a review of these two subjects but wished to devote this Opinion to consideration of genet- ic testing
p.000007: developments made possible by very high throughput DNA sequencing.
p.000007: Technical progress already achieved or currently in the making in the field of human genomics stands at the meeting
...
p.000007: observed for a regulatory system to be both effective and respectful of individual rights.
p.000007:
p.000007:
p.000007:
p.000007:
p.000007:
p.000007: 1 There was no intention of moral judgement in this observation.
p.000007: 2 In fact, the whole DNA of an individual is rarely sequenced except for research applications. The ‘whole genome’
p.000007: wording is used in reference to sequencing very large areas of the genome on a non selective ba- sis.
p.000007: 3 Audition of Prof. Arnold Munnich, 12/05/2014.
p.000007: 4 Sometimes referred to as ‘correcting’.
p.000007:
p.000007:
p.000007:
p.000007: Opinion N° 124
p.000007:
p.000007:
p.000008: 8
p.000008:
p.000008:
p.000008:
p.000008: I/ Why a new Opinion?
p.000008: The improvement of human health is a goal that the vast majority considers to be legitimate and “No one can deny that
p.000008: in the course of our history, Science has been the source of progress and has contributed to improving human
p.000008: well-being.”5. Genetic testing, be it for medical or non medical purposes, and progress in genetic research now open
p.000008: onto a broad vista of knowledge and major hopes for improving medical performance, in for example, therapy
p.000008: optimisation, preventive medicine or even health economics.
p.000008: Prevention, and even prediction, have always aroused interest, but the real sea-change is that we now have instruments
p.000008: which can achieve these aims. This is a field in which “Scientific and tech- nological breakthroughs could lead to
p.000008: founding the choice of our behaviour, not on ethical reflec- tion but on obtaining automatically generated data through
p.000008: the use of new techniques when they are neither expected nor planned for6.” Such advances can therefore create
p.000008: problems rather than be source of progress7. Genetics has become a science fraught with danger (human manipula- tion,
p.000008: eugenics, etc.) but also the source of a multitude of hopes (reducing the burden of genetic diseases and disabilities).
p.000008: Fast evolving technical progress, rather than the novelty of the subject, is the reason for further reflection and
...
p.000009: form of stabilisation of the ‘state of the art’, can be used to make an assessment, a practical feedback appraisal of
p.000009: what sequencing can actually achieve. The scientific discoveries thus accessed are in constant evolu- tion. Perhaps
p.000009: the time when every individual’s genome will be a routine item of his or her medical record, regularly reviewed, is not
p.000009: so far away.
p.000009: Beyond the change in scale and the predominance of personal data management which may be at risk of being no longer
p.000009: under the control of the individual concerned, it is the nature of the da- ta obtained through such sequencing — all of
p.000009: which was not arrived at following the individual’s own request — and uncertainty regarding its significance for
p.000009: the health of the individual that confront us with the true boundaries of knowledge. It follows that it is the
p.000009: issue of the feedback to the individual, regardless of whether the data was, or was not, procured in a medical context,
p.000009: and also the data’s degree of uncertainty, that now arise. Furthermore, these technical devel- opments may move us
p.000009: from a time when the main object of genetics was to explain dis- eases to a situation where genetics are focusing on
p.000009: the prediction of disease, with the at- tendant risk of personal liberties being restricted in the event that public
p.000009: health policies are headed in an interventionist direction10.
p.000009:
p.000009: 8 “The human genome sequence accessible in databases today is as complete as current techniques per- mit.” states
p.000009: the Génoscope, underlining that the concept of completion depends entirely on the state of technology at a
p.000009: given point in time.
p.000009: (http://www.genoscope.cns.fr/spip/Le-projet-Genome-humain.html?artsuite=1#FAQ2),
p.000009: 9 Initially, the (empirical) law expressed by Gordon Moore in 1965, predicted that the complexity of semi- conductors
p.000009: doubled every year at constant cost. This ‘law’ was updated on several occasions and was generalised to
p.000009: mean that a phenomenon (speed, capacity, cost reduction, etc.) doubled every eighteen months, a value that
p.000009: is not given in any of Moore’s own presentations.
p.000009: 10 Qualitative/quantitative leaps as initiated by current genomics:
p.000009: • Passing from measuring a single parameter belonging to an individual to measuring all the parameters; passing from a
p.000009: small number of specific genetic markers, selected and interpretable by a physician (to document a medical diagnostic
p.000009: hypothesis) to non targeted full genome sequencing, without any a pri- ori.
p.000009: • Shifting from analysis targeting a disease (in response to a symptom) to analysis targeting an individual in good
p.000009: health, unsupported by a diagnostic hypothesis, to screen for a risk run by individuals with the purpose of improving
p.000009: their well-being (preventing disease). In which case there is a risk of leaving be- hind a medical framework where the
p.000009: individual is taking an initiative and is in control to one where so- ciety is imposing a norm.
p.000009: • Risk of misuse on human beings of what amounts to a ‘purely technological exercise’
p.000009: • Shift to bioinformatic management which must integrate a discussion of the protection of privacy
p.000009: (anonymisation). The massive quantity of data produced by today’s sequencing techniques is no longer
p.000009:
p.000009:
p.000009:
...
p.000011: ways in which cells and organs, and even whole organisms, use them. To be precise, it is rather more the products of
p.000011: genes than the genes themselves that con- struct the meaning of sentences and therefore the function. The
p.000011: choice of words depends on very complex not entirely genetic interactions in a normal individual. In most of the
p.000011: more fre- quent diseases, they are disordered whereas genetic ‘monogenic’ complaints due to the absence or replacement
p.000011: of letters in a single gene, are often severe and are rare or even very rare.
p.000011:
p.000011:
p.000011:
p.000011: 12 The 1000 Genomes Project Consortium. A global reference for human genetic variation. 2015. Nature; 526: 68-74. The
p.000011: UK10K Consortium. The UK10K project identifies rare variants in health and disease. 2015. Na- ture; 526: 82-90.
p.000011: 13 In those ten years, the cost of sequencing and the time required for doing so was divided by two million.
p.000011: 14 CCNE, Opinion N° 120.
p.000011:
p.000011:
p.000011:
p.000011: Opinion N° 124
p.000011:
p.000011:
p.000012: 12
p.000012:
p.000012: 1- Genetics, between science and practice
p.000012:
p.000012: The success of genome technology, anticipating the interpretation of individual genomes, paves the way for so-called
p.000012: ‘predictive’ medicine. Does it not act as an incentive to force the pace, to ignore the vast and still
p.000012: unresolved areas of
p.000012:
p.000012: uncertainty, or even to neglect genetics as a science, as a scientific theory of heredity?
...
p.000012: models, such as mice, drosophila, nematodes Caenorhabditis elegans, zebrafish and, in plant research, thale
p.000012: cress (Arabidopsis thaliana).
p.000012: • Evolutionary genetics concerned with genes playing an important role in genome plasticity and adaptivity
p.000012: to environmental modifications.
p.000012: • Genomic genetics concerned with the spatial organisation of genomes and its relationship with the use made of it by
p.000012: cells (biological function).
p.000012: • Medical genetics studying the hereditary transmission of genetic human disorders, with a view to prevention and
p.000012: treatment (applied).
p.000012: In medical genetics, the transmissible characteristics are generally diseases, disabilities, varia- tions by
p.000012: comparison to a health-related reference, or even to a state of normality which is often difficult to define. In
p.000012: practice, it is based on genetic testing, sometimes misguidedly described as a genetic diagnosis16. Its purpose
p.000012: varies with the hereditary trait concerned (in particular de- pending on the severity of the associated
p.000012: pathology), on whether the origin is monogenic or multigenic, on the mode of transmission (recessive or
p.000012: dominant), on the penetrance of muta-
p.000012:
p.000012:
p.000012:
p.000012:
p.000012:
p.000012: 15 A phenotype is the composite of an individual’s observable characteristics in contrast with the underly- ing
p.000012: genetic composition (genotype). A phenotype is related to morphological or physiological, or even be- havioural
p.000012: traits. The relationship between phenotype and genotype is not unequivocal since there is no total phenotypical
...
p.000013: the properties that it was initially thought to be in possession of. Biological research and interest are now
p.000013: focusing on the interaction between different cellular components. This does not detract, however, from the genetic
p.000013: determinism affecting individuals.”
p.000013:
p.000013:
p.000013:
p.000013:
p.000013: Opinion N° 124
p.000013:
p.000013:
p.000014: 14
p.000014:
p.000014: environment, our education, all the history that made us human22. The genome is not the arbiter of our fate and
p.000014: knowledge of the genome is not yet of very much use to us for the treatment of the complex and multifactorial diseases
p.000014: which make up the major part of the public health bur- den of an ageing population.
p.000014: Biological complexity cannot, any more than can genetic determinism, accommodate the notion that a standard genome
p.000014: could be defined. To suppose the existence of a ‘normal genome’, set once and for all in some way when humans evolved
p.000014: and distanced themselves from non human primates, and that it should be preserved, is illusory. To speak of ‘normal’
p.000014: genes and ‘mutant’ genes is an aberration since all of our genes, products of evolution, are by
p.000014: definition mutant genes. Some mutations are rare and some are frequent and we should speak of variants, some of which
p.000014: are the cause of disease and others are not.
p.000014: 3- The limits of genomics: the contribution of epigenetics
p.000014: “In human diseases, the genome and epigenome operate together. Tackling disease using infor- mation on the
...
p.000015: of acquired characteristics over several generations25.
p.000015: As yet, however, we are unable to perform a global analysis of the epigenome26, except for spe- cific indications
p.000015: (cancers, some childhood pathologies). But possibly in the future such analysis could help to define — more precisely
p.000015: than with only a genetic sequence — susceptibility via, for example, indicators of an environmental risk of
p.000015: exposure (nutrition, climate, toxic substances, etc.) and therefore identify with greater certainty high-risk
p.000015: individuals who might benefit from preventive measures.
p.000015: 4- From genotype to phenotype with regard to health and welfare
p.000015: Apart from monogenic disorders, genome
p.000015:
p.000015: sequencing alone is not very helpful to pre- dict a risk since, in complex diseases, the genetic contribution is
p.000015: small and above all, difficult to evaluate. It now appears that genomic analysis alone, without the benefit of
p.000015: high quality phenotypic analysis, is not very useful to understand the development of a disease affecting an
p.000015: individual. Infor- mation acquired through ‘phenotype’ anal- ysis is at least as important as the genomic
p.000015: contribution and it is the cross-matching of both types of data — genomic and pheno- typic — which best
p.000015: describes the physio-
p.000015: Epigenetics, the epigenome
...
p.000016: targeting dysfunctions
p.000016:
p.000016:
p.000016:
p.000016:
p.000016: 27 The term transcriptome is used to designate the full set of RNA in a cell or a sample (RNA is transcribed by DNA).
p.000016: By analogy, the determination of the proteins expressed in a sample is called the proteome. The microbiome designates
p.000016: the determination of the DNA sequence of all the bacteria residing in a stool sam- ple (therefore in the gut). The
p.000016: metabolome refers to the full set of small molecules synthesised by an or- ganism. The metabolome provides, at a
p.000016: given time, an image of the metabolic status of an individual which is the result of both genetic and
p.000016: environmental contributions. Such a profile could very well be used in a personalised medicine approach or for
p.000016: purposes of public health.
p.000016:
p.000016:
p.000016:
p.000016:
p.000016: Opinion N° 124
p.000016:
p.000016:
p.000017: 17
p.000017:
p.000017: themselves instead of their per se genetic cause alone28.
p.000017: But, along the same lines as genetic testing, they may be reason to leave aside a medical strategy responding to a
p.000017: symptom (a disease) in favour of anticipation of a medical risk (predicted by the genome), the monitoring of the
p.000017: emergence of its clinical expression (phenotypic analysis) and the offer (which could even become coercive) of public
p.000017: health measures.
p.000017: 5- What data and what risks?
p.000017:
p.000017: How do the new sequencing techniques modify the issues raised by genetic studies? What new data and new risks do they
p.000017: harbour?
p.000017: The genome with its 4 base coding system is particularly suitable for automated digital analysis and bioinformatics
p.000017: which have stormed in to biology and medicine and represent a very signifi- cant development, have played a major role
p.000017: in the advent of high throughput sequencing (preci- sion, speed, cost reduction). This sequencing technique is not
p.000017: confined to human genomic DNA, it also applies to RNA29, to the DNA of the intestinal30 commensal bacteria, or to
p.000017: certain epigenet- ic DNA modifications. It opens up a whole new horizon of ethical issues:
p.000017: a- A change of scale in time and in quantity.
p.000017:
...
p.000018: incidental findings during clinical NGS testing. 2015. Eur J Hum Genet;23(12):1601-6).
p.000018:
p.000018:
p.000018:
p.000018: Opinion N° 124
p.000018:
p.000018:
p.000019: 19
p.000019:
p.000019: • While the acquisition of the ‘raw’ DNA sequence of a genome does not take very long and is relatively cheap, it
p.000019: contains a large number of errors; a reasonably good quality sequence will have to be verified about thirty times and
p.000019: if very high quality is required (as with a clin- ical quality exome), the number of verifications will be in the
p.000019: region of one or two hundred times36.There are hundreds or thousands of individual variants in each genome; how then
p.000019: can they be made significant in terms of health and disease? Defining the absence of conse- quence of a variant or
p.000019: its statistical association relationship, or even its link of causality with a future risk or phenotype (a
p.000019: disease) is risky. Establishing a statistically significant link and steering clear of false positives involves an
p.000019: analysis of very large cohorts37 of sev- eral thousand individuals whose phenotype is known (whether they are or are
p.000019: not suffering from a particular disease), whose full genome has been sequenced and analysed, in order to catalogue the
p.000019: variations and their link with any particular pathology. While causality can be demonstrated in many cases of
p.000019: rare monogenic38 diseases, the link is not so clear for a number of complex multifactorial diseases and
p.000019: those are the conditions which raise major public health issues and for which preventive action would be desirable.
p.000019: Because of these weak correlations and in order to achieve this objective, it is necessary to accumulate data and
p.000019: therefore the voluntary participation of informed individuals consenting to participate in multidisciplinary
p.000019: international studies39.
p.000019: c- The challenge of data management.
p.000019:
p.000019: The acquisition of sequences corresponding to full genomes generate enormous quantities of da- ta whose
p.000019: interpretation and automatic computerised processing cannot be managed by tradi- tional and individual
p.000019: methods. The results obtained are now numbered in terabytes so that un- precedented data processing power is required
p.000019: as is the design of appropriate software.
p.000019: The question of what should be kept and for how long is becoming a crucial problem and this is also true of links to
...
p.000020: medicine, this subject extending far beyond the confines of genetic data derived from very high throughput human DNA
p.000020: sequencing. One of the characteristics of this trend is that the main operators are big concerns (Google, Amazon,
p.000020: Facebook and Apple, for example) who have no traditional history of working with physicians and biologists.
p.000020: Another characteristic is that the resources required to process and store such data is such that it pre- selects a
p.000020: small number of corporations who are equipped for the task, thus creating both a con- centration of power nearing
p.000020: seemingly hegemonic proportions and a form of appropriation of this data which is in fact in contradiction with the
p.000020: basis and the justification for this analysis of massive quantities of health related data, i.e. the unrestricted
p.000020: sharing of information and its free access. This is very central to CCNE’s concerns and it will be the subject of
p.000020: further independent study by the Committee on the ethical issues arising out of using such data, beyond the genetic
p.000020: issues which are the subject of this Opinion.
p.000020: 6- Fields of application
p.000020:
p.000020: Genetic studies are generally undertaken for medical purposes and, less frequently, outside the scope of medical use
p.000020: for forensic or criminological pursuits (DNA forensics) or, more recently, as part of what goes under the name of
p.000020: ‘recreational genetics’. In a medical context, genetic analy- sis seeks to identify the cause of a disease or the
...
p.000020: through genetic and personal data becoming public (http://www.
p.000020: person- algenomes.org/data/PGP12.05/)
p.000020: 42 “Use it or lose it” as an alternative approach to protect genetic privacy in personalized medicine. Wagner JK,
p.000020: Mozersky JT, Myeritz RE. 2014. Urol. Oncol.; 32: 98-101.
p.000020: 43 Knoppers BM. “Consent to personal genomics and privacy”. 2010. EMBO rep.; 11: 416-419.
p.000020:
p.000020:
p.000020:
p.000020: Opinion N° 124
p.000020:
p.000020:
p.000021: 21
p.000021:
p.000021: Moving from genetics focusing on disease to genetics focusing on health, defined as being a complete
p.000021: state of physical, mental and social well-being44, places human genomics in a new con- text. This is no longer a
p.000021: simple change in scale, albeit a major change in scale, and it leads to a not unreasonable expectation of medicine
p.000021: targeting the genome, or ‘precision’ medicine, still frequently and loosely designated by the name ‘personalised
p.000021: medicine’.
p.000021: There must be a clear distinction between constitutional genetic modifications, those which were present in
p.000021: the one-celled egg — or zygote — and will therefore be found in every cell of the body, and ‘somatic’ modifications
p.000021: which are acquired by a few cells during the course of the life of an organism, such as for instance in cancer genesis.
...
p.000021: 1982, 150 in 1990 and nearly 3,000 in 2011. In the particular case of neonatology, this may concern etiological
p.000021: research in the presence of a clinical symp- tomatology without any specific diagnosis (malformation, mental
p.000021: retardation), which is only successful in a quarter of cases. Or it may be a process of systematic neonate DNA
p.000021: analysis, in the absence of any specific warning sign, so as to reveal genetic defects and in the event of positive
p.000021: responses, to organise possible preventive measures. Clinical validity and usefulness, in particular for systematic
p.000021: studies, are debated on a case-by-case basis and may raise ethical issues; conservation of sequences and their possible
p.000021: re-examination throughout the subject’s life can have a serious impact on public health, particularly if a large number
p.000021: of people can be ‘genetically’ monitored. Some thinkers foresee a time when every human being’s genome will be
p.000021: sequenced at birth so as to prepare for a more ‘informed’ treatment of the individual’s fu- ture health. As regards
p.000021: prenatal diagnosis, CCNE has already discussed the development of so-called non invasive tests (Opinion N° 120)
p.000021: and observed that issues of the same nature arise with pre-conceptional analysis (see below, paragraph III-2-5).
p.000021: • There is also another group of constitutional variations: that of complex multifactorial dis- eases
p.000021: (metabolic diseases, including diabetes, cancers45, cardiovascular diseases, psychiatric
p.000021:
p.000021:
p.000021: 44 The 1946 definition of health by WHO, see infra paragraph IV-1.3.
p.000021: 45 Many susceptibility-to-cancer factors have been identified through the use of association studies. The added risk
p.000021: contributed by these factors taken individually is small. Interactions between factors are large- ly unknown. For
p.000021: the time being, susceptibility factors do not have any clinical application. A distinction must be made between
p.000021: the susceptibility factors and genetic factors associated with a high cancer risk
p.000021:
p.000021:
p.000021:
p.000021: Opinion N° 124
p.000021:
p.000021:
p.000022: 22
p.000022:
...
p.000023: thinking regarding the individual empower- ment without interference from the medical professions and without
p.000023: community support. The main motivation in the United States for those paying for such testing is to know
p.000023: more about their ancestry “Bring your ancestry to life” says the 23andMe website, and trace your “lineage” through
p.000023: genetic links. In the genealogical indication — unlike medical prediction — results are robust, but they use other
p.000023: markers. Advertising for these studies is aimed directly at the con- sumer, and the sale of tests and communication
p.000023: of results is addressed directly to the consumer. Usually, members of the medical professions do not play any
p.000023: role. This does lead to health-
p.000023: related, economic and social risks and
p.000023:
p.000023: raises ethical issues.
p.000023:
p.000023: Another use for DNA is what English- language literature calls forensic DNA phenotyping, i.e. the
p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
...
p.000024:
p.000024: 1° French rules, most of them stemming from the 1994 bioethics laws52 on the principle of limit- ing the use of
p.000024: genetic tests to medical and scientific research53 purposes alone and on the organ- isation of the identification of
p.000024: genetic diseases for predictive54 purposes as well as for antena- tal55 diagnosis, but also from law n° 2002-303
p.000024: dated March 4, 2002 which recognised the princi- ple of non discrimination based on genetic characteristics et
p.000024: prohibited the use of genetic test results in matters relating to insurance policies and employment
p.000024: contracts, and finally law n° 78-17 dated January 6, 1978 on Information Technology, Data Files and
p.000024: Civil Liberties which provided for protection of genetic data under the heading of health-related data;
p.000024: 2° European rules: those of the Convention for the Protection of Human Rights and Fundamental Freedoms dated November
p.000024: 4, 1950 and those of the Convention on Human Rights and Biomedi- cine, known as the Oviedo Convention56, dated April 4,
p.000024: 199757, which sets out “common general
p.000024:
p.000024:
p.000024:
p.000024:
p.000024: Criminal Chamber of the Court of Cassation (French Supreme Court of Appeal), on 25 June 2014 (see Bul- letin des arrêts
p.000024: de la Cour de cassation, chambre criminelle 2014, n° 166 - Criminal Chamber records) ap- proved a decision by the
p.000024: Examining Chamber to order an expert examination of the DNA sampled on the person of the victim of violent rape with
p.000024: the aim of revealing the morphological characteristics of the per- petrator and facilitate his identification.
p.000024: 51 An analysis of this legal context as regards i) examination of genetic characteristics, ii) antenatal diag- nosis
p.000024: and iii) the protection of personal data, is provided in annex V-1 (Analysis of the legal context).
p.000024: 52 Laws n°94-548 dated July 1, 1994, n°94-653 and n°94-654 dated July 29, 1994, incorporating modifica-
p.000024: tions successively made by laws n° 2004-800 dated August 6, 2004 and n° 2011-814 dated July 7, 2011, both concerned
p.000024: with bioethics.
p.000024: 53 Article 16-4 of the Code civil: “...a person’s genetic characteristics can only be examined for medical pur- poses
p.000024: or for scientific research.”
p.000024: 54 Articles L. 1131-1 to L. 1131-7, L. 1132-1 to L. 1132-7, L. 1133-1 to L. 1132-10 of the French Code of Public
p.000024: Health.
p.000024: 55 Articles L. 2131-1 to L. 2131-5 of the French Code of Public Health.
p.000024: 56 Convention on Human Rights and Dignity of the Human Being with regard to the Application of Biology and
p.000024: Medicine: Convention on Human Rights and
p.000024: Biomedicine http://coe.int/Treaty/fr/Treaties/Html/164.htm
p.000024: 57 Ratified by France in 2012 (Article 1 of law n° 2011-814 dated July 7, 2011 on bioethics: “is authorised the
p.000024: ratification of the Council of Europe Convention for the Protection of Human Rights and the dignity of the human being
p.000024: with regard to the applications of biology and medicine: Convention on Human Rights and Biomedicine, signed in Oviedo
p.000024: on April 4, 1997 “ and Decree n° 2012-855 of July 5, 2012) and, therefore ap- plicable in French law, by virtue of
...
p.000025: “prohibition of discrimination60” referred to in Article 14 of the European Convention on Human Rights,
p.000025: French legislators were led to proposing two new rules under the heading of “prohibition of
p.000025: discrimination”. 61 The first of these inserting into the Code Civil a general princi- ple to the effect that “no one
p.000025: could be the object of discrimination because of genetic characteris- tics”; the second rule sought to modify the
p.000025: Code Pénal62 on repression of the infraction of dis- crimination63 by extending the definition to cover genetic
p.000025: characteristics. However, these dispo- sitions are not related to the law on bioethics n° 2004-800 dated August 6,
p.000025: 2004. They are at- tached to law n° 2002-303 dated March 4, 2002 on the rights of patients and the quality of the
p.000025: public health system, following an amendment proposed by Alain Claeys based on the fact that “discrimination by
p.000025: generic heritage is not radically different from discrimination based on race64.
p.000025:
p.000025: 58 Explanatory report, Dec. 1996, § 4, http://conventions.coe.int/Treaty/FR/Reports/Html/164.htm. The additional
p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
p.000025: health care professionals”.
p.000025: 62 Articles 225-1 to 225-4 of the Code pénal.
p.000025: 63 The draft law also extended the prohibition of discrimination in recruitment, sanctions and dismissals as laid out
p.000025: in article L.122-45 of the Code du Travail (now Article L. 1132-1) to discrimination based on genetic characteristics.
p.000025: 64 A. Claeys, JO Débats AN 3 Oct. 2001, 5432: Amendment n°99, reproducing Article 1 of the draft law on bioethics. He
p.000025: was referring to the European Convention on Human Rights, without explicitly saying so.
p.000025:
p.000025:
p.000025:
p.000025:
p.000025: Opinion N° 124
p.000025:
p.000025:
p.000026: 26
p.000026:
p.000026: Finally, should be added to the above the rules set out by the Charter of Fundamental Rights of the European Union
...
p.000028: Press.
p.000028: 70 Orsi F et Moatti JP. « D'un droit de propriété intellectuelle sur le vivant aux firmes de génomique : vers une
p.000028: marchandisation de la connaissance scientifique sur le génome humain », in Economie & prévision, 2001/4 no 150, p.
p.000028: 123-138. Cf. Cassier M. « L'expansion du capitalisme dans le domaine du vivant : droits de pro- priété intellectuelle
p.000028: et marchés de la science, de la matière biologique et de la santé », in Actuel Marx, 2003/2 n° 34, p. 63-80.
p.000028:
p.000028:
p.000028:
p.000028: Opinion N° 124
p.000028:
p.000028:
p.000029: 29
p.000029:
p.000029: results71.
p.000029:
p.000029: 5- Repercussions on medical management
p.000029:
p.000029: It is symptomatic that in our country, where public expenditure for health is among the world’s highest, less than 3%
p.000029: of it is devoted to the prevention of disease. In this context, is there any sense in highlighting the predictive
p.000029: applications of human DNA sequencing?
p.000029: If it is no longer questionable, or even becomes fully established, that a given mutation is associ- ated with a
p.000029: significant risk of developing a given disease, should we wait for the clinical diagno- sis to be formulated or should
p.000029: society step in with preventive action that could delay the onset of clinical symptoms?
p.000029: This raises a substantial issue: defining disease. Today, it is defined clinically and, despite some diagnostic
p.000029: imperfection, this is very well suited to ‘traditional’ medicine. For quite a while, we have seen prediction making
p.000029: inroads into the clinical scene. This is the case, for example, when some anomalous clinical or biological parameters,
p.000029: such as arterial hypertension or hypercholes- terolemia are seen as diseases whereas they are no more than the
p.000029: predictive constituent of dis- ease.
p.000029: Perhaps genomics, confronting us as it does rather abruptly with the concept of predisposition, contributes to a very
p.000029: reductive view of the vast stretch between genomic and clinical? Can we accept the concept that ill health begins
p.000029: with predisposition? This is the question which led Jean Dausset into creating the concept of predictive
p.000029: medicine. The possibility of a predisposition leading to a prediction, could give rise to ‘preventive’ medical
p.000029: management, which would easily enough become coercive72.
p.000029: Up to now, very high throughput DNA sequencing was most often used for clinical purposes on targeted areas of the
p.000029: genome, in particular in prenatal medicine or oncology as well as to identi- fy pathogenic agents. This use of
p.000029: targeted testing will continue to grow, but the full potential of the kind of medicine that is erroneously
p.000029: designated as ‘personalised’ and which should more properly be described as being ‘precision genomic medicine for
p.000029: individual use’, is based on the routine application of techniques pertaining not only to the sequencing of full
p.000029: genomes, or exo- mes, in particular for oncology, but also on the integration of a number of other biological mark-
p.000029: ers, in particular those produced by the so-called ‘omic’ techniques and the entirety of health- related data. It
p.000029: is hoped that this block of information could establish a connection between
p.000029:
p.000029: 71 Cook-Deegan R. and Dedeurwaerdere T. « Biens communs scientifiques » et recherche en sciences de la vie :
p.000029: structure, fonction et valeur de l'accès à la diversité génétique », in Revue internationale des sciences sociales ,
p.000029: 2006/2 n° 188, p. 317-338.
p.000029: 72 Such constraints are unlikely to be acceptable in a country like France, in which over 30% of its citizens smoke
p.000029: (32.4%), where one smoker out of two will die of a tobacco-related illness and where quite a num- ber of patients do
p.000029: not comply with medical prescription.
p.000029:
p.000029:
p.000029:
p.000029:
p.000029: Opinion N° 124
p.000029:
p.000029:
p.000030: 30
p.000030:
p.000030: DNA sequences (the genotype) and the phenotype, and therefore between an individual genome and the dynamics of its
p.000030: expression so as, in particular, to gain a better understanding of the transition from good health to bad,
p.000030: and so improve the medical management73 of poor health.
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030: 73 Chen R. (2012). Personal Omics profiling reveals dynamic molecular and medical phenotypes. Cell; 148: 1293-1307.
p.000030:
p.000030:
p.000030:
p.000030: Opinion N° 124
p.000030:
p.000030:
p.000031: 31
p.000031:
...
p.000031: that there is a certain amount of inter- communication between information and the exploitation of storable and
p.000031: usable DNA sequenc- ing data. This is probably a major ethical upheaval: from the start, from the genetic data
p.000031: acquisi- tion phase onwards, individuals are at the heart of this process of implication and participation although
p.000031: they may not necessarily be aware of it.
p.000031: A- At the boundary between research and medicine, constructing a science on uncertainty Impressive developments in
p.000031: DNA sequencing capacity and applying them to activities such as identification, genealogy and even more
p.000031: significantly to precision medicine and public health, should not make us forget that the greatest
p.000031: challenges of modern genetics are related to knowledge and therefore to research. Nor should they prevent us
p.000031: from seeing that new ge- nomic acquisitions (human genomics particularly) are opening a path to the now non specula-
p.000031: tive possibility of modifying DNA sequences.
p.000031: 1- The theory of uncertainty and risk.
p.000031:
p.000031: Contrary to the impression gained from media and commercial sources, the determination or analysis of DNA
p.000031: sequencing data provides information fraught with uncertainty75. The first level of uncertainty is irreducible; it is
p.000031: due to the natural variability of random phenomena. The sec- ond level, which would best be described as
...
p.000033: drawbacks for a patient). When full sequencing is authorised, strict protocol must guide deci- sions to be
p.000033: taken regarding unsolicited discover- ies83.
p.000033: The Presidential Commission for the Study of Bi-
p.000033: "Genetics and Medicine: from Prediction to Prevention"
p.000033: CCNE Opinion N° 46 - 30 October 1995
p.000033:
p.000033: Genetic tests give information on the identity of persons and emphasise their diversity which con-
p.000033: tributes to the rich nature of humankind. To use such information for the purpose of selection or of
p.000033: discrimination in social or economic terms, be that in the realm of public health policies, employment, or insurance
p.000033: systems, would be crossing a boundary of the most extreme gravity and would question those principles of
p.000033: equality of rights, dignity and sol- idarity for all human beings upon which society as we know it is based.
p.000033: The CCNE insists on the neces- sity of observing those fundamental principles whatever aims may be
p.000033: pursued by genetic testing. Human Rights are at stake.
p.000033: oethical Issues in the United States and the European Society of Human Genetics emphasised the need to initiate a
p.000033: shared decision process with patients regarding the confines within which ge- netic testing results would be
p.000033: communicated and the procedures to be observed in the event of incidental findings. Physicians must respect a
...
p.000034: for research, can be identified with the help of easily accessible research on the Internet.85 This experiment
p.000034: illustrates what the theory and practice of forensic medicine implies: DNA sequencing is unique to an individual and
p.000034: could therefore identify that individual if sequencing and personal data were accessible, although the risk of this
p.000034: occurring is still very low at this point in time. Databases are filling up, day after day, with huge quantities of
p.000034: sequences. To have these sequences available is essential if we are to make progress on their interpretation and
p.000034: therefore on our fundamental knowledge of the genome and the link between genome varia- tion and health risks. In
p.000034: most case, individual contributions are voluntary and are not seen a priori as a threat to anonymity, even though
p.000034: there may be some ambiguity between research and clinical use as regards ‘free and informed’ consent. But it should be
p.000034: noted that a similar situation exists in the use made of social networks on the Internet, which collect impressive
p.000034: quantities of personal data, photographic data in particular. In the same way as concealing one’s name be- hind a
p.000034: pseudonym or an avatar is no guarantee of anonymity, the relative efficacy if not down- right fragility of DNA
p.000034: sequencing anonymisation is anything but infallible protection of private data.
...
p.000034:
p.000034: 84 “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
p.000035: link between such information and that derived from genomic analysis, which is not in essence anonymous, is obviously a
p.000035: risk to the integrity of anonymity. It would not even be unthinkable to suppose that a link between such information
p.000035: and the exist- ence of a biological sample stored in a biobank86, whose DNA could be sequenced at any time87, is also a
p.000035: threat to anonymity88.
p.000035: Currently, the dispersion of data files, despite their constantly growing numbers, seems to pro- tect against this
p.000035: threat. They are, however, increasingly easy to interconnect, in particular with the help of the computerised
p.000035: technology being developed and now capable of managing massive quantities of data (‘big data’), so that genetic
p.000035: ‘correlations’ are increasingly easy to establish.
p.000035: In view of these difficulties some scientists and some legal experts believe that, rather than try- ing to prevent
p.000035: information from circulating, we should concentrate on educating DNA donors (sick or in good health)
p.000035: included or not in a cohort, who are willing to have their DNA se- quenced, and work on legislation
p.000035: protecting sequencing data from inappropriate use, as well as on the supervision of such uses.
p.000035: 2- Do the technical advances in genetics leave enough scope for freedom and/or autonomy?
p.000035:
p.000035: Back in 1995, CCNE pointed out the special role played by genetic analysis in its relationship with
p.000035: individuals and their private lives: “...a genetic test implies entry into the intimacy of an indi- vidual, of his
p.000035: body, and the significance he attaches to it in relation to his psychic identity. Fur- thermore, almost
p.000035: constitutional frailties may be revealed, of an innate and non accidental nature, the interpretation of which for the
...
p.000035: Opinion N° 124
p.000035:
p.000035:
p.000036: 36
p.000036:
p.000036: In its Opinion N° 120, CCNE underlined that in the field of prenatal genetic tests, “It would seem essential therefore,
p.000036: to muster up and comply with the conditions enabling couples to benefit from true freedom of choice and take an
p.000036: independent and informed decision. As a complement, collec- tive efforts to engage in research as well as provide
p.000036: assistance, counselling and care must continue so that the systematic offer to diagnose […] in no way suggests to
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
...
p.000036: For Arnold Munnich, for whom the primary obligation is to name the dis- ease and identify the molecular foundations,
p.000036: “... the true ethical challenge is: how can I assure my patients that all that science is aware of has been
p.000036: investigated in their particular case? That none of them have suffered any ‘loss of opportunity’? This is a taxing
p.000036: technical and economic problem in view of the fact that a severe disorder, such as mental retardation, autism,
p.000036: epilepsy, may be due to the effects of several hundred genes known and classified by science, but still untested in our
p.000036: cur- rent health care system. 91
p.000036: And yet, rather like a person looking for missing keys under a good light rather than where they were actually mislaid,
p.000036: it is easier for us to investigate genomic areas and genes for which we al- ready know the predictive nature of their
p.000036: mutations and to propose that they be systematically
p.000036:
p.000036:
p.000036: 90 Report written at the request of the Agence de Biomédecine (Biomedicine Agency) and the Institut Na- tional du
p.000036: Cancer (National Cancer Institute) 2007
p.000036: 91 « La génétique est-elle inhumaine ?», in Esprit, 2014/7 Juillet, p. 66-74.
p.000036:
p.000036:
p.000036:
p.000036: Opinion N° 124
p.000036:
p.000036:
p.000037: 37
p.000037:
p.000037: analysed, as is the case in the prenatal context92. This is screening which, unlike diagnosis, has a demographic and
p.000037: collective dimension and is a public health concern.
p.000037: Today, neonatal screening is systematic for five diseases: cystic fibrosis, phenylketonuria, hypo- thyroidism,
p.000037: congenital adrenal hyperplasia and sickle-cell anaemia (for at-risk groups). This is biological — not genetic —
p.000037: screening (genetic screening is now available for cystic fibrosis), whose sole objective is the direct and
p.000037: immediate benefit of a child suffering from one of these conditions; its justification is that it affords the
p.000037: possibility of providing early specific treatment or appropriate management.
p.000037: Should screening become genetic or pangenomic, as is already under consideration in the United States for 56 genes, it
...
p.000040: population at large and is therefore based on a probabilistic type of analysis. It therefore situates a
p.000040: person beyond the individual level, within society. Is the individual ac- countable to society?
p.000040: Be they common ailments, relatively treatable such as diabetes, hypertension and cardiovascu- lar diseases, or
p.000040: progressive and so far inevitable such as Alzheimer’s and Parkinson’s, the cost for society of such conditions which
p.000040: could become ‘predictable’ in the near future is considera- ble. But as regards the first group, there are preventive
p.000040: measures considered by some (increas- ingly numerous) to be dependent on lifestyle and which could have a considerable
p.000040: impact on na- tional health care expenditure, in particular if DNA sequencing came to be in general use and
p.000040: therefore made it possible to start ‘prevention’ at a young age, or even at birth. Monitoring
p.000040: compliance with ‘healthy lifestyle’ rules is likely, furthermore, to become ever easier thanks to connected medical
p.000040: care and devices97.
p.000040: “Although France is strongly attached to principles of non discrimination and mutualisation of risks, the
p.000040: emergence of predictive medicine could be disruptive. Having detailed knowledge of indi- vidual risks, if that turned
p.000040: out to be possible, could lead to a breakdown, or at least to dilution of solidarity and of the mutualised
p.000040: coverage of the health risk”98. The example from the United States, not as yet reaching France, of
p.000040: accountability being reinforced by a private health care sys- tem which is not supportive of tobacco addiction,
p.000040: brings us to a situation midway between praise, or even reward, for virtuous behaviour and that of demonising or
p.000040: even penalising risky behaviour. In this way, there could be a blurring of the traditional distinction between a risk
p.000040: in- curred born of a not as yet controllable heredity and a risk chosen by the adoption of a lifestyle.
p.000040:
p.000040:
p.000040: 96 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000040: Prevention”.
p.000040: 97 Two articles are evidence of the (economic) interest the insurance industry is taking in connected de- vices for a
p.000040: personalised evaluation of health risks (« Notre enjeu est de rendre les assurés acteurs de leur propre santé avec
p.000040: un prérequis : proagir et prévenir » [CNP-assurances]) (“Our challenge is to get policy holders to take
p.000040: charge of their own health, with one proviso: they must be proactive and preventive). And they are already in use:
p.000040: http://www.lemonde.fr/economie/article/2015/06/15/les-objets-connectes-transforment-le-secteur-
p.000040: de-l-assurance_4654485_3234.html#
p.000040: http://www.insurancespeaker-solucom.fr/2014/02/objets-connectes-quels-enjeux-pour-lassurance-de- personnes/
p.000040: 98 Reynaudi M. et Sauneron S. (2012). Médecine prédictive : les balbutiements d’un concept aux enjeux con- sidérables,
p.000040: (Predictive medicine: the infancy of a concept with considerable implications). La note
p.000040: d’analyse, n° 289, Centre d’analyse stratégique.
p.000040:
p.000040:
p.000040:
p.000040: Opinion N° 124
p.000040:
p.000040:
p.000041: 41
p.000041:
p.000041: C. The genome at the boundary between information and consent
...
p.000041: cinema, adver- tising) disseminating information should fight shy of these linguistic deviations and try to con-
p.000041: tribute, each in their own sphere, to respecting the scientific reality of the information that DNA provides us with
p.000041: and, more importantly, the information it will be able to provide in the future.
p.000041: The first and main challenge of genetic information is certainly due to the evolutionary nature of the body of
p.000041: knowledge provided by very high throughput sequencing since the time of the earli-
p.000041:
p.000041:
p.000041: 99 Kass NE, et al. (2013). The Research-Treatment Distinction: A Problematic Approach for Determining Which
p.000041: Activities Should Have Ethical Oversight. Ethical Oversight of Learning Health Care Systems, Has- tings Center Report
p.000041: Special Report; 43: S4-S15.
p.000041: 100 Doolittle WF et al. (2013). Sixty years of genome biology. Genome Biology; 14:113-120.
p.000041:
p.000041:
p.000041:
p.000041: Opinion N° 124
p.000041:
p.000041:
p.000042: 42
p.000042:
p.000042: est decoding of human DNA sequences, barely more than ten years ago. This is true of the knowledge
p.000042: itself and of its applications, medical applications in particular. Information explora- tion is now an integral part
p.000042: of progress in genomics101.
p.000042: Another challenge presented by this genetic information is that it is expected to be a normative basis for health and
p.000042: behaviour although there is not anywhere in the world a human community which voluntarily defines or accepts such a
p.000042: norm.
p.000042: Some insignificant variants and other more predictive ones will be identified, in particular based on the analysis of
p.000042: large cohorts, which define genetic events as being ‘at-risk’ rather than as a hypothetical standard of normality or
p.000042: abnormality, so that data significance is moved away from the individual towards population, away from individual
p.000042: use towards usefulness for public health.
p.000042: Finally, in the face of a floodtide of genetic information, one risk for our future is that — apart from its
p.000042: trivialisation — is that it tends to become insistent, and even invasive beyond the ques- tions that we are actually
p.000042: asking of it. Such is the danger of tests that break out of their targeted objective, that technology inserts into a
p.000042: global approach, of so-called ‘full genome’ sequencing.
p.000042: 2- Misuse of genetic information and consequential risks
p.000042:
p.000042: The world over, whole population or very large cohort DNA sequencing initiatives are being launched, based
p.000042: on various demands ranging from pure cognitive research to short term clinical exploitation. A non exhaustive list
p.000042: could include:
p.000042: • The 100,000 genomes project in the United Kingdom (http://www.genomicsengland.co.uk/the-100000-genomes-project/).
p.000042: • The FarGen project aiming to sequence full genomes of the whole population of the Faroe Islands (50,000 people)
p.000042: (http://www.fargen.fo/en).
p.000042: • The recently launched “Precision Medicine” project, initiated by President Barak Obama with the intention of
p.000042: constituting a million person cohort contributing genetic and medi- cal genetic data
p.000042: (http://www.nih.gov/precisionmedicine/).
p.000042: • The “personal genome” project (PGP) which created as early as 2005 a free-access scien- tific resource collecting
p.000042: genetic, environmental and health data supplied by a global net- work of volunteers (http://www.personalgenomes.org).
p.000042: The terms of reference of these studies raise questions in our minds regarding the implicit choices from
p.000042: which they originate. For example, one might wonder about the motive for the
p.000042:
p.000042:
p.000042: 101 Gallezot Gabriel, « Exploration informationnelle et construction de connaissances en génomique », in
p.000042: Les Cahiers du numérique, 2002/3 Vol. 3, p. 121-136.
p.000042:
p.000042:
p.000042:
p.000042: Opinion N° 124
p.000042:
p.000042:
p.000043: 43
p.000043:
p.000043: constitution of a national cohort like the one in the Faroe Islands and about the biological signif- icance of a
...
p.000043: incidentally, they also contribute to the trivialisation we referred to above. Triviali- sation and generalisation
p.000043: are, wherever they occur, factors for deviation, for what ethical bodies like to refer to as ‘the slippery slope’ in
p.000043: the direction of a society which would be making preven- tion compulsory and would categorise and discriminate
p.000043: for the sake of scientific logic. These projects, in their breadth of vision and their determination to
p.000043: encompass society as as a whole are perhaps leading us from the outset beyond the frontiers between research and
p.000043: medicine, to a territory possibly redefining what we consider to be that of privacy? They make such
p.000043: data available to society, for public uses in particular in the realm of public health and for private us- es —
p.000043: insurers and employers readily come to mind — and they are evidence of a relatively easy path to generalisation.
p.000043: 3- Psychological risks
p.000043:
p.000043: Psychological risks should not be dismissed as minimal and could explain the demand for the right ‘not to know’.
p.000043: The communication of the results of genetic testing, a case in point for in- stance the outcome of testing for
p.000043: biological paternity, or the possibility of a medical risk becom- ing known, leads the person concerned to mourn in
p.000043: advance a future which had hitherto formed one of life’s premises. “The prediction contained in the test results
p.000043: shortens considerably the tem- porality separating a state of health from a state of disease […] In this way, such a
p.000043: presymptomatic test may telescope time: the future becomes the present.” 102 There is also an after effect as the
p.000043: traumatic impact of the communication triggers awareness of other past events: “The pointer of time is reversed,
p.000043: travelling from the present to the past, revealing past events in a new light invest- ed with new meanings, discovered
p.000043: retrospectively […] The past becomes of paramount importance in the manner of experiencing the here and now which the
p.000043: revelation forces upon the subject. Re- living history, the subject will be reflecting on real or imagined past
p.000043: events, interconnecting them, giving them a different meaning. The traumatic potential of the communication is all
p.000043: the greater when its impact strikes an unprepared psyche.103
p.000043:
...
p.000044: strictly personal autonomy? What of the consent of the next of kin?
p.000044: Do we own the information contained in our genome?
p.000044:
p.000044: In the case of more targeted research projects, as may be the case in an oncological context, complete
p.000044: genome sequencing techniques may simply be faciliatory, or be a necessity if the object is to compare the tumoral and
p.000044: the constitutional genomes. What type of consent can be given in such a case? Article L.1122-1 of the French Code of
p.000044: Public Health provides an exhaustive list of the information that must be given to the person participating in
p.000044: research, including inter alia the objectives, the length of time spent on the research, the impossibility of
p.000044: participating simul- taneously in another research project105.
p.000044:
p.000044:
p.000044: 104 Missonnier S. (2006). Périnatalité prénatale, incertitude et anticipation. Adolescence ; 1 : 207-224.
p.000044: 105 Article L1122-1-1 “No biomedical research may be practised involving individuals without their free and informed
p.000044: consent, secured after the information listed under article L. 1121-1 has been provided to them. Consent
...
p.000045: Salk’s polio vaccine.
p.000045: When they discovered incidentally the existence of these cells, members of the patient’s family were dismayed by the
p.000045: fact that they had never been informed of the situa- tion nor been given any explanation. Publication of the DNA
p.000045: sequence of the HeLa cells genome, probably con- sidered by researchers to be common property, raised the issue
p.000045: of public dissemination of private genetic data. Negotiations between the NIH management and mem- bers of the
p.000045: family led to rules being established for shar- ing the HeLa cells genome sequencing*. On this occa- sion,
p.000045: Francis Collins, Director, US National Institutes of Health, remarked that the situation created by the DNA
p.000045: sequencing of the HeLa cells demonstrated that ethical policy was several years or maybe several decades
p.000045: lag- ging behind science and that it was time to update it.
p.000045: *Hudson KL., Collins FS. (2013) Biospecimen policy: Family matters. Nature; 500: 141-142
p.000045: link with the phenotype is unknown. Here again, it is the permanency of the media used to store the genetic
p.000045: information in a database and the evolutionary nature of the knowledge to which it gives access which raise issues.
p.000045: Can the burden of such information be imposed on a future adult who might have preferred to claim the right
p.000045: not to know?
p.000045: 5- The right to know, the right not to know
p.000045:
...
p.000046: incidental findings in the event of full genome analysis108. Some fifty ge- netic anomalies were listed which
p.000046: warranted, according to this recommendation, an obligation to inform those concerned or the patients, regardless of
p.000046: whether they had or had not requested that information and irrespective of their age. This step goes a long way in
p.000046: the direction of an obligation to know, to giving up the right to ignorance. The arguments following the
p.000046: report’s publication led to the recommendations being withdrawn109. Being made aware of incidental findings is
p.000046: therefore no longer an obligation; it is still an option.
p.000046: In France, since the adoption of the law dated July 7, 2011 (article L. 1131-1-2 of the French Code of
p.000046: Public Health, it is mandatory to inform the next of kin if a serious genetic (hereditary) disease is diagnosed. This
p.000046: obligation does not solve the ethical problem of disclosing the risk of disease to blood relations who had not
p.000046: requested the information110. This is an example of how difficult it is to find the right balance between
p.000046: personal autonomy, respect for that autonomy and the duty of solidarity which is also expressed in the warning
p.000046: given and the prevention of a genetic risk or danger.
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
...
p.000047: brought about by the activities of the private sector. This represents an unprecedented opportunity for accelerating
p.000047: and augmenting our grasp of the living world and for improving the help we are able to give to those who are victims of
p.000047: its dysfunctions.
p.000047: As a result, what seemed to be no more than a technical process, i.e. full genome analysis, could challenge
p.000047: well-established practices or concepts, both medical and social, or could enter into conflict with
p.000047: national or international rules and regulations based on accepted values, thus opening a vast area of ethical
p.000047: debate.
p.000047: Some of these developments aim primarily at improving people’s health and will probably achieve their goal.
p.000047: They also meet a legitimate need for autonomy; attempts to curb their pro- gress to protect people are doomed to
p.000047: failure. And yet, certain relatively foreseeable social de- velopments and risks arising out of genomic analysis
p.000047: should be the subject of the community’s consideration without further delay in order to avoid or minimise them, or
p.000047: take compensatory measures.
p.000047: CCNE would like such consideration to be given to the important subjects for which the ‘genetic revolution’, as it is
p.000047: sometimes called, plays a major role: medical practices, free and informed consent, privacy. We may indeed
...
p.000049: be able to prescribe appropriate treatment. These de- velopments require specific therapeutic strategies of the same
p.000049: kind as those currently existing for rare diseases, or in the case of frequent diseases in patients from poor countries
p.000049: who are un- able to buy these medications113. So, as attempts at ‘personalised’ or ‘precision’ medicine are
p.000049: made, are we not calling into question the current model for the elaboration, production and marketing
p.000049: of medications based on the so-called ‘blockbuster’ drugs? The pharmaceutical in- dustry is currently
p.000049: adapting to a market for targeted, but frequently very costly drugs (for ex- ample Nivolumab for metastatic melanoma et
p.000049: non small cell lung cancer) whose impact on the health care budget and therefore on the French sickness insurance
p.000049: system raises major national solidarity issues114.
p.000049:
p.000049:
p.000049:
p.000049: 112 Claeys A, Vialatte JS, Office parlementaire des choix scientifiques et techniques. Les progrès de la géné- tique :
p.000049: vers une médecine de précision ? Les enjeux scientifiques, technologiques, sociaux et éthiques de la médecine
p.000049: personnalisée. Office parlementaire des choix scientifiques et techniques, 2014, rapport acces- sible à
p.000049: http://www.senat.fr/rap/r13-306/r13-306_mono.html
p.000049: 113 Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal
p.000049: products: “As a result of the high cost of research and development, the pharmaceuticals industry is reluctant to
p.000049: develop medicinal products intended for the treatment of rare conditions, as well as those called 'orphan medicinal
p.000049: products', for which the market is smaller."
p.000049: 114 Claeys A, Vialatte JS. 2014, opus quoted supra.
p.000049:
p.000049:
p.000049:
p.000049: Opinion N° 124
p.000049:
p.000049:
p.000050: 50
p.000050:
p.000050: 3- A different relationship with disease
p.000050:
p.000050: Human health and its definition, unchanged since the World Health Organization expressed it in 1946115, is a vast
p.000050: subject for debate. It is confronted by medicine based on scientific evidence to which, as we have seen, genetic
p.000050: data and particularly that generated by large-scale and high- throughput DNA sequencing, provides apparent
p.000050: objectivity. And yet this does not contradict an understanding of disease as “life at a different pace” even though it
p.000050: seems to call into question the primacy of clinical practice, referred to by G. Canguilhem in the following terms:
p.000050: “...clinical practice is not, and never will be, a science (...) Life standards are not dictated by science”.
p.000050: Can genetics ‘define’ symptom free disease, before the onset of symptoms?
p.000050:
...
p.000050: 4 -A different relationship with the prevention of disease
p.000050:
p.000050: The new technologies could also accelerate developments in the practice of preventive medicine. But here again, this is
p.000050: not a new departure. The results of measuring arterial blood pressure or blood lipids, cholesterols in particular, do
p.000050: not reveal a disease but rather the risk of disease on- set, such as cerebrovascular accidents or myocardial
p.000050: infarction. A generalisation of predictive genetic tests is helping to increase the distance between a predisposition
p.000050: revealed and its possi- ble clinical expression and, if necessary, to anticipate such expression. But does it also
p.000050: make a decisive contribution to preventive medicine, be it for individuals or for the public health sys- tem? 116
p.000050: From the point of view of public health, empowering individuals and encouraging risk-reducing lifestyles, thus
p.000050: lessening the likelihood of pathological outcomes, is of value. But individualising preventive strategies according
p.000050: to the genetic characteristics of people who are more or less likely to develop some medical condition or
p.000050: another involves a risk of social inclination to dis- criminate or encroach on individual liberties, particularly
p.000050: in a context where reducing health
p.000050:
p.000050:
p.000050: 115 “Health is a state of complete physical, mental and social well-being and not merely the absence of dis- ease or
p.000050: infirmity.” Preamble to the Constitution of the World Health Organization as adopted by the In- ternational Health
p.000050: Conference, New York, 19-22 June 1946.
p.000050: 116 Etienne JC, Corne C. Les enjeux de la prévention en matière de santé. 2012. Avis du
p.000050: Conseil économique, social et environnemental.
p.000050:
p.000050:
p.000050:
p.000050: Opinion N° 124
p.000050:
p.000050:
p.000051: 51
p.000051:
p.000051: care expenditure is widely viewed as inevitable. Exploiting this data in terms of risk, with an eye on public health
p.000051: policy, on a country-wide scale, does not signify that it brings with it direct indi- vidual benefit in terms of
p.000051: prevention and therefore of health. What information does the ‘full’ genome today, and the ‘full’ phenotype tomorrow,
p.000051: provide for the individual?
p.000051: 5- The physician’s place and role
p.000051:
p.000051: In Opinion N° 120, CCNE had already looked into the new impediments to medical practice in the presence of the very
p.000051: great degree of technicality in DNA sequencing, sequencing interpreta- tion and, above all, the massive amount of
p.000051: information it generates: “...an a priori selection of the DNA sequence to be targeted before the couple’s
p.000051: medical advisor has any say on the matter, de- prives the doctor who is the direct counterpart in the dialogue
p.000051: with the expectant mother or the couple, of any power of judgment and any possibility of responding in detail to the
...
p.000052: B. Reflection needed on respect and protection of privacy
p.000052:
p.000052: The change of scale as regards the instruments required for the acquisition and analysis of ge- netic data, the
p.000052: quantities of data it will generate, their multiple and varied uses and the numbers and variety of operators who will
p.000052: be exploiting them will have such consequences on the con- cept of privacy that we must review our thinking on this
p.000052: subject.
p.000052: 1-Legal protection for personal data
p.000052:
p.000052: Once again, we have to point out that, in the main, the management of genetic data (DNA se- quences)
p.000052: is part of a more general picture, that of personal data, health data in particular, which is stored in huge quantities
p.000052: and constantly shared, be it in the form of identifiers and banking particulars for example, or medical files, among
p.000052: others those stored by the French public health care system, although the special case of the ‘shared medical record’
p.000052: is one particularly sensitive aspect of the problem117. Because of the duty of confidentiality, no health care
p.000052: professional can publish information concerning a third party, even when the person concerned has already pub- lished
p.000052: the information.
p.000052: Since personal medical data is already protected, there is no overriding reason why human ge- nome sequencing should be
p.000052: made an exception to the general principles applicable to medical care as defined in articles 6 and 7 of the law dated
p.000052: January 6, 1978:
p.000052: • Purpose (legitimate and specific);
p.000052: • Proportionality (recording only pertinent and necessary information);
p.000052: • Pertinence of data (appropriate, pertinent and not superfluous in the light of stated objec- tives);
p.000052: • Limited duration (data stored in keeping with stated treatment objectives);
p.000052: • Safety and confidentiality (authorised staff, steps taken to safeguard data, preventing unau- thorised access);
p.000052: • Transparency (information provided to those concerned);
p.000052: • Respect for personal rights (informing those concerned and the right to object; rights of ac- cess and correction
p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
p.000053: to do so, even though, and possibly even more so, if there is a form of social pressure, or even a fashionable trend
p.000053: that this is the way to go for those who wish to have a responsible attitude towards their own health and wish to do
p.000053: their bit in the name of improving public health. Holding a genetic ID card seems to be gratifying and harmless, but
p.000053: in the same way as social networks have blurred the distinction between pub- lic and private, a day may come when the
p.000053: holder regrets having published information based on data that can be interpreted, and even interpreted again at a
p.000053: later date and whose nuisance po- tential was not suspected initially.
p.000053: Protection of privacy protects individuals from unwarranted revelations, sources of knowledge by the public of facts of
p.000053: a private nature and incursions on their dignity or liberty119. The right to data self-determination, a concept
p.000053: defined by the German Constitutional Court in 1983, should be promoted; it is not a right of ownership in the
...
p.000053: America, New York, Vintage Books, 2000; Post RC, “Three Concepts of Priva- cy”, Georgetown Law Journal, 2001, 89, p.
p.000053: 2087,2098.
p.000053: 120 Report by the Conseil d’État (Council of State, highest French administrative jurisdiction): Le numérique et les
p.000053: droits fondamentaux, La Documentation française, Paris, 2014.
p.000053:
p.000053:
p.000053:
p.000053: Opinion N° 124
p.000053:
p.000053:
p.000054: 54
p.000054:
p.000054: al data, defining a chain of accountability starting with data collecting organisms through to final users, attaching
p.000054: metadata to personal data indicating the purposes for which the data was col- lected and thereby, defining restrictions
p.000054: on its use121, etc. 122
p.000054: 3- The public health/privacy relationship
p.000054:
p.000054: Ethics requires us to raise the issue of the impact that sequencing technology has already had on individuals and
p.000054: society. This is all the more important if it becomes possible to sequence not just a genome, but also to have
p.000054: access to all the parameters defining an individual’s phenotype, thus anticipating and influencing future developments.
p.000054: One of the main and specific characteristics of genetic information is that such data is not solely ‘personal’ and
p.000054: private in the usual meaning of the words. It is personal of course, but it also identifies and is
p.000054: shared by a kinship group123. How, therefore, can procedures designed for an individual be used to manage what
p.000054: relates to several people?
p.000054: There is a need to distinguish between the case where a listing is of a purely private nature and could lead to
p.000054: commercial uses and the case where it responds to an a priori legitimate public health objective for the
p.000054: benefit of the community.
p.000054: Privacy infringements through the creation of genetic characteristics data bases are not, obvi- ously, only
p.000054: dangerous in themselves, but also because of the uses that could be made of them. To some extent, a data market
p.000054: already exists. Nor should the possibility be overlooked of their being put to use in certain parts of the world by
p.000054: repressive political regimes.
p.000054: Were improvements to public health by the use of collections of personal genetic data to be the only criteria, privacy
p.000054: protection could be seriously at risk and all the more so since epigenetics, that is personal history and behaviour,
p.000054: need to be known in order to arrive at a fair interpreta- tion of genetic data. If that were so, under the
p.000054: guise of advancing the cause of public health, there could be serious intrusions upon personal privacy so as to
p.000054: arrive at a more accurate be- havioural characterisation. It becomes clear that a contract of reciprocity between an
p.000054: individu-
p.000054:
p.000054: 121 Cf. the draft Consumer Privacy Bill of Rights Act, 2015.
p.000054: 122 Moreover, the various parties concerned, in particular technical operators, should certainly be invited to set up
p.000054: privacy friendly technology (favouring the protection of privacy and personal data) by introduc- ing the concept of
p.000054: privacy protection from the outset (privacy by design), by designating dedicated per- sonnel for data protection
p.000054: within organisms collecting such personal data, by creating a right to be delist- ed based on the right to oppose the
p.000054: processing of an individual’s own personal data, by inversing ‘public by default’ to ‘private by default’, etc.
p.000054: 123 This situation is representative of others: (i) the parents of underage children holding the rights be- longing
p.000054: to their offspring, following constant legislation; (ii) ascendants and collaterals of people to be listed
p.000054: in the French automated national genetic prints DNA database (FNAEG - Fichier National Automati- sé des Empreintes
p.000054: Génétiques).
p.000054:
p.000054:
p.000054:
p.000054:
p.000054: Opinion N° 124
p.000054:
p.000054:
p.000055: 55
p.000055:
p.000055: al’s privacy and the furtherance of public health must always be drawn up so as to define clearly the limitations and
p.000055: privileges of personal capacity rights.
p.000055: 4- Modifications to information and consent procedures
p.000055:
p.000055: Consent is obviously required for the storage of, and access to, genetic data. It cannot, however, have the same
p.000055: impact as in cases where data is collected for a specific purpose since it is as- sumed that
p.000055: interpretation of the genome is work in progress and could reveal, at a later time, in- formation that the researchers
p.000055: had not expected at the time the data was collected.
...
p.000055: the infor- mation/consent relationship.
p.000055: To which must be added that the existence of unexpected data could render the ‘right not to know’
p.000055: meaningless although good practices seek to perpetuate it, in particular for severe late- onset pathologies.
p.000055: Getting one’s DNA sequenced may be tantamount to imposing the unex- pected on others, blood relatives in
p.000055: particular. The system needs to be entirely reviewed, both to adapt it to the probabilistic nature of some of the
p.000055: information as well as to take into account the fact that all discoveries and their interpretation cannot be
p.000055: anticipated at the time of testing.
p.000055: Those whose task it is to legislate on public health matters should address their thoughts to how individual access
p.000055: to quality medical genetic information should be organised, to adapting free and informed consent procedures
p.000055: to the possibility of incidental discoveries, and to diagnostic developments in the prenatal and perinatal periods.
p.000055: The possibilities for prevention, diagnosis and treatment flowing from access to the human genome deserve to
p.000055: be implemented without obstruction as long as they are based on scientifically validated techniques and are able to
p.000055: dis- tinguish between that which is within the purview of genetics, of heredity in the broadest mean- ing of the word,
...
p.000055: before quite some time124. There is, however, an essential need for it to be open and accessible
p.000055:
p.000055:
p.000055: 124 Law and technology do not follow the same timetable.
p.000055:
p.000055:
p.000055:
p.000055: Opinion N° 124
p.000055:
p.000055:
p.000056: 56
p.000056:
p.000056: to all as part of a democratic debate which the Committee highly recommends.
p.000056:
p.000056: 5- Reconciling shared data and privacy
p.000056:
p.000056: Confronted with public heath issues, individuals may choose to revise their criteria for the rig- orous protection of
p.000056: their privacy, in particular by deciding to reveal information on their per- sonal health, which is what they do
p.000056: already on certain forums and social networks. Let us not forget that some medical data, genetic data particularly,
p.000056: also concerns next of kin and is situated at the outer confines of what can be considered to be individual data.
p.000056: If there is no contract stipulating reciprocal rights between the individual concerned and the organism charged with
p.000056: collecting the personal data, the potential for damage to the individual’s privacy is too serious for it to remain
p.000056: unobstructed. Inversely, a form of reciprocity could be drawn up by the authori- ties regarding the individual’s right
p.000056: to transparency and to be fully informed of any use made by the authorities of personal data and the way in which they
p.000056: intend to protect the data and control its use. The right of the individual to demand the removal of stored data would
p.000056: also be protect- ed by such an agreement. Nevertheless, it would be difficult to maintain respect for the agree- ment
p.000056: over time in view of the evolutionary nature of the data, although the more the data evolved, the
p.000056: greater would be the need for the information it contains.
p.000056: Identifiable genetic information is permanent. It can be stored electronically, used over and over again,
p.000056: added to at any point in the life of individuals concerned, as a result of which they may be confronted with critical
p.000056: problems in their relations with the public (health) institution or the private company (commercial) storing the data
p.000056: or the community (political) wanting to use the date. This dependence on time and the multiplicity of players is
p.000056: representative of the differ- ence between genetic information and other medical data. The latter is only significant
p.000056: at the time it is imparted and within the confines of the doctor/patient dialogue.
p.000056: In view of the fallacious nature of the ‘anonymiszation’ of personal and genomic data in open- access databanks, can
p.000056: the community guarantee that the DNA I am trusting it with will stay uni- dentifiable? At the other end of the scale,
p.000056: should not individuals consent to take the risk that their private data does not remain anonymous, for example in the
p.000056: context of the analysis of a co- hort’s data, if out of the genome sequencing of a very broad selection of the
p.000056: population an item of knowledge emerged which solved a public health problem or identified a risk factor,
p.000056: from which they themselves might also derive benefit? But, in such cases, is ‘sharing’ the right word to describe the
p.000056: process? Is this not more in the nature of a gift of information to those for whom it might be beneficial?
p.000056: We are therefore entering the subject of respect for privacy from the point of view of self-
p.000056: determination rather than of ownership. The principle of non-appropriation of genetic data supposes the
p.000056: existence of a free access policy coupled with pooling such benefits as might be
p.000056:
p.000056: Opinion N° 124
p.000056:
p.000056:
p.000057: 57
p.000057:
...
p.000057: ‘publicness’125 was coined to bear witness to the collective val- ue of self-revelation: creating a climate of
p.000057: trust and common knowledge so as to improve the chances for individual emancipation. The concept is therefore
p.000057: ‘targeted’, it is a ‘service’ to the public, it is not identical to generalised transparency; it seeks to serve a more
p.000057: inclusive defini- tion of the common good. Two points, however, need to be kept in mind.
p.000057: While sharing may be considered as one way of conducting personal privacy, meaning that shar- ing is a free choice and
p.000057: not an obligation, it is still true that it must also be possible to reverse the process of sharing, meaning that
p.000057: contents that people no longer want to share could be with- drawn or deleted. However, apart from research
p.000057: and public health applications, current regula- tions seem to be rather inefficient in preventing information willingly
p.000057: shared at some point from being shared forever. Finally, in a world where the pooling of personal data may be
p.000057: considered as pertaining to the common good, then the common good cannot, whatever the circumstances, be incompatible
p.000057: with the right to privacy126. If an individual has decided to share freely personal data, this does not signify that
p.000057: he or she has relinquished any right to privacy or that third par- ties have any claim to violate that right.
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057: 125 There is no satisfactory translation in French for the English word ‘publicness’. There have been sug- gestions
p.000057: that another newly minted word, ‘publitude’ in French, could be used to designate an attitude of transparency, of
p.000057: public sharing of personal data, a new standard launched by the Internet giants with the slogan: ‘If you have nothing
p.000057: to hide you have nothing to fear’.
p.000057: 126 It would be well to consecrate the notion that genome-related data is the ‘common property’, of several
p.000057: ‘co-owners’, the use of which can only be decided jointly by all concerned.
p.000057:
p.000057:
p.000057:
p.000057:
p.000057: Opinion N° 124
p.000057:
p.000057:
p.000058: 58
p.000058:
p.000058: C. The risk that genetics could ‘take over’ the preventive component of public health
p.000058:
p.000058: We have analysed the role and the implications of modern genomic developments as regards prediction and
p.000058: prevention in personal and public health, in particular those connected to large- scale high-throughput DNA sequencing.
p.000058: This role is both the cause and the consequence of using a very powerful technology capable of increasing the knowledge
p.000058: we already have or wish to acquire about our heredity and, more gen- erally, of our physiology, before its
p.000058: biotechnological or medical application. In view of the em- phasis on medical applications, CCNE must stress
p.000058: that it is now well established that major health determinants, and therefore the major determinants of public
p.000058: health prediction are relat- ed to lifestyle, most particularly in the social and economic conditions affecting
p.000058: people’s lives.
p.000058: 127,128
p.000058:
p.000058: To be sure, where individual health is involved and, in a given environmental context, the pre- dictive value of
p.000058: certain genetic determinants based on rigorous scientific facts, can be significant and pave the way for preventive
p.000058: measures, some of which may be effective. Is there not a dan- ger that genetics may take over the already
p.000058: limited attention granted to prevention in public health policies? 129
p.000058: Investigating the actual portent of defects in our genes and DNA sequences and how they could affect life expectancy is
p.000058: a legitimate enterprise, as long as we remember that life expectancy de- pends primarily on social, non-genetic
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
p.000058: 127 “Closing the gap in a generation. Health equity through action on the social determinants of health.” Fi- nal
p.000058: Report of the Commission on Social Determinants of Health. World Health Organization 2009. ISBN 978 92 4 256370 2.
p.000058: 128 Marmot M. 2010. “Fair society, healthy lives”. Strategic review of health inequalities in England
p.000058: post- 2010.
p.000058: 129 It is worth noting that only 2.24% of current health expenditure was spent on prevention in France in 2014.
p.000058: http://www.irdes.fr/enseignement/chiffres-et-graphiques/depenses-de-sante/depense-courante-de- sante.html
p.000058:
p.000058:
p.000058:
p.000058:
p.000058: Opinion N° 124
p.000058:
p.000058:
p.000059: 59
p.000059:
p.000059: ties due to people’s professions or where they live.
p.000059:
p.000059: Should we not also investigate the nature of the scientific, political and mainly economic forces moving relentlessly
p.000059: in the direction of an increasingly technical management of health care? Ge- netic testing is only the tip of the
p.000059: iceberg, currently conspicuous because of the prodigious speed of its development.
p.000059: Human genomic research will only be a major asset for improving human health if it does not supplant clinical medicine
p.000059: and public health policy130, both of which are inseparable from health care.
p.000059:
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p.000059:
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p.000059:
p.000059:
p.000059:
p.000059: 130 Public health policy can help to modify the social and economic determinants of health whereas clinical medicine
p.000059: is, more often than not, ineffective in this respect.
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: Opinion N° 124
p.000059:
p.000059:
p.000060: 60
p.000060:
p.000060: V / Annexes
p.000060: A. Analysis of the legal context
p.000060:
p.000060: 1- Examination of genetic characteristics
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
p.000060: prenatal development. The purpose of the analysis is to “either make, confirm or refute a genetic diagnosis, or to
p.000060: search for the characteristics of one or several genes that could cause disease in a person or in potentially concerned
p.000060: members of that person’s family, or to adjust medical treat- ment to match a person’s genetic traits” 131 . The rules
p.000060: applicable are not those normally regulating the decisions that a sick person who has requested the advice of a
p.000060: physician might ordinarily be tak- ing: they are based on the full information provided by the physician132 as a result
p.000060: of a global analysis of a person’s state of health, so that an informed decision can be made, i.e. accepting or
p.000060: rejecting the physician’s proposals133. Nor are the rules those applicable to biomedical134 tests. Instead, they are
p.000060: specific to bioethical135 medical practices which are particular in that they are controlled, unlike
p.000060: ‘normal’ medical practices for which it is sufficient for people to consider themselves sick for them to be given the
p.000060: health care appropriate to their state of health136. Such practices are regulated, both as regards the request
p.000060: formulated by the person concerned and the practitioner’s response, to which
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060: 131 Article R. 1131-1 of the French Code of Public Health.
p.000060: 132 The delivery of which is one of the rights of a person in ill health: article L. 1111-2 of French Code of Public
p.000060: Health.
p.000060: 133 Article L. 1111-4 al. 1 of the French Code of Public Health: “... patients make decisions regarding their own
p.000060: health together with the member of the medical professions, taking into account the information and advice the latter
p.000060: provides.”
p.000060: 134 Articles L. 6211-1 and L. 6211-2 of the French Code of Public Health.
p.000060: 135 Which, according to the explanatory statement of the bioethics draft law, should be understood as be- ing
p.000060: “...ethical and societal issues related to medical innovation involving manipulation of living material”: Draft law on
p.000060: bioethics, prec., 4.
p.000060: 136 As demonstrated by Canguilhem, a physician responds to a request, that of people consulting him
p.000060: because they feel unwell and call on his competent care; therefore, says Canguilhem, “it is first and
p.000060: foremost because people feel sick that medicine exists”, to which he adds: “it is always by relevance to the sick
p.000060: person, through clinical practice, that there is justification for the qualifier “pathological”.
...
p.000061: people than the person submitting to the test.
p.000061: The law puts two constraints on the physician as regards securing consent and providing information; but in both cases
p.000061: they differ from those applicable to patients as set out in the March 4, 2002 law on patients’ rights. The law
p.000061: distinguishes between the decision taken by the patient and the possible provision of the care required by the
p.000061: patient’s condition. Information, which has been one of the recognised rights of patients139 since the adoption of
p.000061: law N° 2002-303 dated March 4, 2002, has an essential role to play here, that of giving patients the possibility of
p.000061: making an informed decision re- garding their own health. The information must include the state of health, possible
p.000061: treatment, its usefulness and needfulness, frequent or serious risks that are normally foreseeable and other possi- ble
p.000061: solutions. Expression of the patient’s wishes are the consequences of the information provided and may be acceptance
p.000061: or rejection of the treatment and care proposed. Later, if the medical care on offer is accepted, no medical act or
p.000061: treatment required for its implementation may be performed
p.000061:
p.000061:
p.000061: 137 For example, in the particular case of genetic testing, they can only be done in the biomedical laborato- ries
p.000061: specifically authorised to do so (Article L. 1131-2-1 par. 1 of the French Code of Public Health. The test may be
p.000061: carried out only by practitioners who have been authorised to do so by the Agence de la Bio- médecine (Article L.
p.000061: 1131-3 of the French Code of Public Health). Furthermore, depending on whether pa- tients themselves are showing
p.000061: symptoms of a genetic condition or are patients without symptoms but with a family history of disease,
p.000061: prescription is dispensed individually or also individually but by a physi- cian working in a “multidisciplinary
p.000061: team of medical practitioners combining both clinical and genetic qualifications (Article R. 1131-5 of the
p.000061: French Code of Public Health).
p.000061: 138 In this context, Elsa Supiot points out the lawmaker’s decision to formulate a ‘genetic exception’. E. Su- piot,
p.000061: Les tests génétiques, contribution à une étude juridique, thesis Paris I, 2013, p. 10 and s. Presses Uni- versitaires
p.000061: d’Aix-Marseille (PUAM), 2014, 40 and s.
p.000061: 139 “Everyone is entitled to information on the state of his or her health”: article L. 1111-2 par. 1 of the French
p.000061: Code of Public Health.
p.000061:
p.000061:
p.000061:
p.000061: Opinion N° 124
p.000061:
p.000061:
p.000062: 62
p.000062:
p.000062: without the patient’s “free and informed consent” which “may be withdrawn at any point” 140: physi- cians cannot treat
p.000062: patients without their agreement141.
p.000062: For genetic testing, the Code Civil142 contains a general principle, to the effect that physicians must obtain the
p.000062: subject’s express consent before the test, prior consent being an essential condition for the test to take place.
p.000062: Moreover, patient consent must be given formally in writing. However, it would seem that this is intended by
p.000062: legislators to provide the person securing consent with reasona- bly uncontroversial proof rather than to safeguard
p.000062: patient rights.
p.000062: There are also rules organising the practice of genetic testing as referred to in the French Code of Public
p.000062: Health. First of all, the general rule in the Code Civil on this subject, the obligation on the phy- sician to secure
p.000062: prior consent is reiterated, taking into consideration that since the adoption of the August 6, 2004 Law on Bioethics,
p.000062: this rule is no longer set out and is simply brought up by reference to the Code Civil143. Then, as a second step,
p.000062: rules relating to information are set out as two obliga- tions, one on the prescribing physician to inform the subject,
p.000062: before the test, of the risks that silence on the subject’s part would entail for members of the family in
p.000062: the event that a serious genetic anomaly were to be diagnosed; and the other obligation on the person submitting
...
p.000062: “...the results of a genetic test are not the sole concern of the proband. They also affect the whole family,
p.000062: ascendants, descendants, collaterals, and possibly spouse.” It would seem that the information to be
p.000062: provided to the family is so essential that it obscures the infor- mation which one would expect to see
p.000062: communicated to the test subject, but which is not referred to in the law, so that one needs to consult the regulatory
p.000062: arrangements in order to discover the exact
p.000062:
p.000062:
p.000062:
p.000062:
p.000062: 140 Article L. 1111-4 par. 4 of the French Code of Public Health.
p.000062: 141 These two rules — information and consent — are only cumulative when the decision implies medical intervention or
p.000062: the administration of treatment.
p.000062: 142 Article 16-10 par. 2 of the French Code Civil.
p.000062: 143 This rule was repeated in Article L. 1131-1 para.1 of the French Code of Public Health, but was no long- er to be
p.000062: found in the version of the August 6, 2004 Law on bioethics; it now only states that testing a per- son’s genetic
p.000062: traits is regulated both by the Code Civil and by the articles of the Code of Public Health re- ferring to it. As it
p.000062: stands, it becomes difficult to understand the paragraph 2 which follows and which pro- vides for exceptions to this
p.000062: general rule, without explanation.
p.000062: 144 Either in person or through the prescribing physician.
p.000062: 145 CCNE, Opinion n°76, Regarding the obligation to disclose genetic information of concern to the family in the
p.000062: event of medical necessity, April 24, 2003.
p.000062:
p.000062:
p.000062:
p.000062: Opinion N° 124
p.000062:
p.000062:
p.000063: 63
p.000063:
p.000063: contents of the information received146. Nevertheless, communication of genetic information to rel- atives seems to be
...
p.000063: prescribing physician to inform other members of the family, thus effectively forcing the information on to them148.
p.000063: Once the genetic testing is completed, communication of the results149 is dealt with according to rules
p.000063: specific to genetic tests instead of the general rules regulating biomedical test results. Whereas the latter are
p.000063: communicated to both the prescriber and to the patient150, with genetic tests it is the prescribing physician who
p.000063: communicates the results to the person concerned and possibly to mem- bers of the family151.
p.000063: Following the example of Article 12 of the Oviedo Convention, these rules only concern genetic test- ing for health
p.000063: purposes: “Tests which are predictive of genetic diseases or which serve either to iden- tify the subject as a carrier
p.000063: of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease may be
p.000063: performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate
p.000063: genetic counselling.” But ten years after being adopt- ed, the Additional Protocol on Genetic Testing, dated May 7,
p.000063: 2008, observed “...an increase in the
p.000063:
p.000063: 146 Article R. 1131-4 para. 1 of the French Code of Public Health: “... the person is informed of the character-
p.000063: istics of the medical condition being researched, of the means of detecting it, of the degree of reliability at- tached
p.000063: to test results and also of possibilities for prevention and cure. The person is further informed of the condition’s
p.000063: particular mode of genetic transmission and of possible consequences for other members of the person’s family.” The
p.000063: only clear and precise indication of the contents of the information to be imparted is given in the rules of good
p.000063: practice applicable to the examination of a person’s genetic traits for medical reasons as set out in the 27 May 2013
p.000063: Decree.
p.000063: 147 Article L. 1131-1-2 para. 1 of the French Code of Public Health: “… if the person has expressed in writing a wish
p.000063: not to be informed of the diagnosis, he or she may authorise the prescribing physician to inform those concerned in
p.000063: compliance with provisions in the paragraph 4”.
p.000063: 148 The December 8, 2014 Decree defining the rules of good practice for informing relatives on the results of genetic
p.000063: testing for medical purposes, does not consider this issue at all. It focuses entirely on defining a severe medical
p.000063: condition caused by genetic anomalies, or a preventive measure or a cure for that condi- tion. It also devotes
p.000063: attention to the physician’s obligation to provide information on the risk of loss of opportunity to seek medical help
p.000063: incurred by potentially concerned members of the family due to the sub- ject’s refusal to pass on the information to
p.000063: them. Finally, it calls attention to the subject’s obligation to in- form his or her family of the results of
p.000063: diagnostic testing for genetic anomalies which could lead to the on- set of a serious condition when preventive
p.000063: measures or care can be helpful: December 8, 2014 Decree, of- ficial publication n° 0293, JO, text N° 63.
p.000063: 149 Article L. 6211-6 of the French Code of Public Health: “...a biomedical test of a person’s genetic traits […] is
p.000063: governed by the articles of this document as well as to those comprising chapter 1 of title III of book 1 of the first
p.000063: part”.
p.000063: 150 Based on Article L.1111-2 of the Code of Public Health stating that : ““a member of the medical profes-
p.000063: sions within the context of his or her qualifications will communicate the information.”
p.000063: 151 Article R. 1131-19 para. 2 of the Code of Public Health: “...or, as the case may be, to persons listed under
p.000063: the second paragraph of Article L. 1131, as part of an individual medical interview.”
p.000063:
p.000063:
p.000063:
p.000063:
p.000063: Opinion N° 124
p.000063:
p.000063:
p.000064: 64
p.000064:
p.000064: number of genetic tests sold through the internet by companies outside the established healthcare system” and
p.000064: stated in the Preamble to the Protocol that it was “Aware also of the concerns that exist regarding possible improper
p.000064: use of genetic testing, in particular of the information generated there- by”. But since these rules only refer to
p.000064: medical practices, they do not apply to genetic tests sold by commercial firms on the Internet and performed in a non
...
p.000064: genetic testing was recognised as legitimate for medical purposes exclusively, ruling out the possibility of requests
p.000064: from insurers using them for selection and therefore to discrimination in insurability depending on personal
p.000064: biological characteristics. Bowing to this rule, the Fédération française des sociétés d’assurances (French
p.000064: federation of insurance companies) accepted a five-year moratorium in 1994. However, in a prospective study
p.000064: published by their review and authored by François Ewald and Jean-Pierre Moreau156 they put forward the theory
p.000064: that a radical change of scene had been brought about by the possibility of prediction generated by genetics since “ill
p.000064: health which used to be a fatality has become an individual future”; so that “equality in health formerly attached to
p.000064: total ignorance in the face of disease” is disrupted since it is now possible to know the likelihood of good or bad
p.000064: health, so that each person is now individually responsible for his or her own health
p.000064:
p.000064:
p.000064: 152 Article 6 of the Additional Protocol to the Convention on Genetic Testing for Health Purposes, May 7, 2008,
p.000064: referred to above.
p.000064: 153 Rapp. AN, n° 3403, May 11, 2011, 26, J. Leonetti.
p.000064: 154 Article L1133-4-1 of the Code of Public Health, reproducing Article 226-28-1 of the Criminal Code stat- ing that
p.000064: “a person requesting examination of his or her genetic characteristics or those of a third party […] except in the
p.000064: circumstances provided for by law, incurs a fine of €3,750”.
p.000064: 155 Genetic Tests for Health Purposes,
p.000064: Council of Europe, 2012, http://www.coe.int/t/dg3/healthbioethic/Source/fr_geneticTests_hd.pdf
p.000064: 156 F. Ewald, J-P Moreau, Génétique médicale, confidentialité et assurance, Revue Risques, n°18, 1994.
p.000064:
p.000064:
p.000064:
p.000064: Opinion N° 124
p.000064:
p.000064:
p.000065: 65
p.000065:
p.000065: capital. Consequently, concealing information about poor health harms other insured people who are made to bear
p.000065: an unfair share of the burden and, at the same time, not being allowed to communicate information about
p.000065: good health is harmful to the person concerned who is unable to negotiate a more favourable insurance premium.
p.000065: It was decided, firstly in the draft law on bioethics in 2001 and later in draft legislation on patients’ rights and
p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
p.000065: But it must be added that discrimination based on the state of health, “when relating to death prevention and coverage,
p.000065: risk of disabling personal injury or of work incapacity or disability” 158 are not punishable so that insurers can
p.000065: legally refuse would-be policy holders by reason of their state of health. This exception is due to the fact that an
p.000065: insurance policy is a ‘contract in good faith’ so that a person seeking insurance is bound to “respond truthfully to
p.000065: questions asked by insurers […] regarding the circumstances enabling the company to evaluate the risks it is
p.000065: underwriting” 159.
p.000065: However, information requested by an insurance company only applies to what is known with certainty at the
p.000065: time the statement is made. For this reason two further rules were adopted: on the one hand, insurers cannot make use
p.000065: of genetic information that candidates for insurance may have spontaneously contributed, nor may they ask them
p.000065: if they have undergone genetic testing or ask them to communicate results of genetic testing and finally
p.000065: they cannot require candidates to undergo genetic testing160; on the other hand, discrimination based on
p.000065: “predictive genetic test results with the object of investigating the existence of an as yet undeclared disorder or
p.000065: for genetic predisposition to a disease” is punishable as an infraction to laws on discrimination161. The element of
p.000065: uncertainty concerning onset of the disease is the reason why health data relating to genetic factors
p.000065: must not be demanded by insurers.
p.000065: 2- Prenatal diagnosis
p.000065:
p.000065: A prenatal diagnosis is genetic; it applies predictive medicine to foetuses and embryos, but with the possible
p.000065: consequence of voluntary termination of pregnancy for medical reasons, hence the gradual-
p.000065:
p.000065:
p.000065:
p.000065: 157 Article 225-1 of the Code Pénal (criminal code)
p.000065: 158 Article 225-3 of the Code Pénal.(criminal code)
p.000065: 159 Article L. 113-2-2° of the code des assurances (insurance code)
p.000065: 160 Article L. 1141-1 of the Code of Public Health. The same rule is reiterated in the code des assurances
p.000065: (Article L. 133-1 of the code des assurances), as also in the code de la sécurité sociale (French social security code)
p.000065: as applicable to pension funds (Article L. 932-39 du code de la sécurité sociale), and in the code de la mutualité for
p.000065: mutual health insurance systems as define by that code (Article L. 112-4 of the code de la mutualité).
p.000065: 161 Article 225-3 1° of the Code Pénal. (criminal code)
p.000065:
p.000065:
p.000065:
p.000065: Opinion N° 124
p.000065:
p.000065:
p.000066: 66
p.000066:
p.000066: ly acceptable possibility of using embryonic cells for diagnosis before the embryo is implanted in the womb.
p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
p.000066: (interruption volontaire de grossesse pour motif thérapeutique - ITG) as allowed by the January 17, 1975 law N° 75-17.
...
p.000067: to detect all anomalies and even less any predisposition. Legislators did not endorse CCNE’s suggestion,
p.000067: set out in Opinion N° 107, that in the case of a preimplantation diagnosis of the embryo in vitro, a karyotyping
p.000067: procedure would be advisable in order to detect possible trisomies, instead of waiting to then do a prenatal diagnosis
p.000067: of the pregnant woman.
p.000067:
p.000067:
p.000067:
p.000067:
p.000067: 162 CCNE, Opinion n° 83, Generalised prenatal screening for cystic fibrosis, December 18, 2003.
p.000067: 163 Article L. 2131-4 of the Code of Public Health.
p.000067:
p.000067:
p.000067:
p.000067: Opinion N° 124
p.000067:
p.000067:
p.000068: 68
p.000068:
p.000068: In conclusion, it can be noted that, according to a study made by the Council of Europe, French law is evolving in
p.000068: harmony with a general trend of authorising prenatal diagnosis for medical purposes, with certain variations
p.000068: in national legislation from one country to another164.
p.000068: 3- Protection of personal data
p.000068:
p.000068: Rules protecting personal data have evolved with technological developments. Beginning with the French law n° 78-17
p.000068: of 6th January 1978 on Information Technology, Data Files and Civil Liberty, they mainly applied to manual and
...
p.000068: extending protection, beyond national frontiers, to the circulation of personal data throughout Europe. This was the
p.000068: objective pursued by Convention n° 108 for the Protection of Indi- viduals with regard to Automatic Processing
p.000068: of Personal Data, dated January 28th 1981166 which sought to “extend the safeguards for everyone’s rights and
p.000068: fundamental freedoms, and in particular the right to the respect for privacy, with regard to automatic processing of
p.000068: personal data relating to him”. It moreover created a specific form of treatment for “special categories of data”,
p.000068: data con- cerning health in particular, which “may not be processed automatically unless domestic law pro-
p.000068: vides appropriate safeguards”.
p.000068: Later, the adoption of Directive 95/46/EC of October 24th 1995, on the protection of individuals with regard to the
p.000068: processing of personal data and on the free movement of such data, sought to harmo- nise the regulations of member
p.000068: states as regards personal data so as provide an equivalent and high
p.000068:
p.000068:
p.000068:
p.000068:
p.000068:
p.000068: 164 This 2010 study showed that prenatal diagnosis is largely acceptable (explicitly or implicitly) in the
p.000068: countries responding to the questionnaire, with the exception of Ireland. Preimplantation diagnosis is ex- pressly
...
p.000068: Individus - Automated administrative identification system) put forward by INSEE (French na- tional statistics
p.000068: bureau) in 1971.
p.000068: 166 Adopted by the Council of Europe.
p.000068:
p.000068:
p.000068:
p.000068: Opinion N° 124
p.000068:
p.000068:
p.000069: 69
p.000069:
p.000069: level of protection167 throughout the Member States168. This directive was transposed into French
p.000069: legislation very belatedly by law n° 2004-801 of August 6th 2004169, as France feared a decline in in- dividual liberty
p.000069: and protection of privacy. This is in fact the case in particular for health related data for which processing is
p.000069: prohibited but which can be overturned by explicit consent on the part of the person concerned.
p.000069: However the legal framework was set up in 1995 at a time when use of the Internet was in its infan- cy. The rapid
p.000069: development of technologies facilitation the acquisition and sharing of data in a global context led the European Union
p.000069: to prefer “...a comprehensive, coherent, modern, high-level frame- work able to protect effectively individuals'
p.000069: fundamental rights, in particular privacy, with regard to any processing of personal data of individuals within and
...
p.000070: 70
p.000070:
p.000070: the European Data Protection Supervisor (EDPS) notes that these principles are a reference point, but even
p.000070: more significantly he asserts that respect for human dignity is the basis for any processing of personal data,
p.000070: considering future European rules on personal information as a tool to “safeguard individuals’ fundamental rights and
p.000070: freedoms in the data-driven society of the future”. This reference to human dignity is consequential since the
p.000070: explanations to the Charter of Fundamental Rights took care to state that the “dignity of the human person is not only
p.000070: a fundamental right in itself but con- stitutes the real basis of fundamental rights”.
p.000070: In a constantly evolving context, reporting on the rules applicable to processing health related and genetic data is no
p.000070: easy task: on the one hand, the future Regulation is still in draft form with remain- ing differences of opinion on
p.000070: certain essential points with regard to privacy; on the other, the CJEU ruling in the Schrems v Data Protection
p.000070: Commissioner Case of October 6, 2015174, emphasising the issue of the transfer of personal data to a third country
p.000070: outside the EU which may, in principle, take place only if that third country ensures an adequate level of
p.000070: protection of the data, will no doubt have an impact on the final discussions of the draft Regulation. The issue
p.000070: called into question is the European Commission Decision n° 2000/520/EC of 26 July 2000 regarding the adequacy of
...
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
p.000071: practices in force in that third country did not ensure a level of protection of fundamental rights equivalent to that
p.000071: guaranteed within the European Union.
p.000071: Although some of these rules are still being debated and others are invalidated, the data emerging from clinical
p.000071: medical practices and genetic research is currently regulated by the French law on In- formation Technology, Data Files
p.000071: and Civil Liberty; this refers to medical and genetic data and also data related to biomedical samples. The law
p.000071: prohibits the collection or processing of health related data176, of which genetic data177 is an integral part; but as
p.000071: an exception to this principle, it allows for the possibility of processing if the person concerned has given
p.000071: express consent178 ; similarly, pro- cessing based on genetic data cannot be used without authorisation but this is
p.000071: not required if physi- cians or biologists are doing the processing and it is necessary for medical prevention, medical
p.000071: diag-
p.000071:
p.000071:
p.000071:
p.000071: 176 Article 8 of law n° 78-17 of 6 January 1978 modified and emerging from Directive 95/46/EC of 24 Oc- tober 1995.
p.000071: 177 Defined as follows by the Commission’s Proposal for a Regulation of January 2012:“’genetic data' means all data,
p.000071: of whatever type, concerning the characteristics of an individual which are inherited or acquired during
p.000071: early prenatal development”.
p.000071: 178 Rule in Directive 95/46/EC of 24 October 1995 and repeated by the Commission’s Proposal for a Regu- lation of
p.000071: January 2012, which unlike the Directive explicitly refers to genetic data.
p.000071:
p.000071:
p.000071:
p.000071: Opinion N° 124
p.000071:
p.000071:
p.000072: 72
p.000072:
p.000072: nosis or the administration of health care or treatment179. In the context of genetic research, express consent by the
p.000072: person concerned is required180, be it applicable to samples or genetic data and the research must respond to a
p.000072: specific medical or scientific objective.
p.000072: In a global genetic research context, attention must be paid to the development of pooled medical and genetic data,
p.000072: a recent example of which is the Global Alliance181 for Genomics and Health - GA4GH: a non-profit
p.000072: association gathering together health care providers, research institutions, pa- tients’ rights advocacy
p.000072: organisations and companies specialising in life sciences and information technology. Its main objective is
p.000072: to accelerate medical progress by encouraging generalised access to genomic and clinical data. In order to achieve
p.000072: these aims, it insists on the need to define a com- mon framework of harmonised technical, operational and ethical
p.000072: international standards to enable safe and responsible inter-operability of genomic research platforms. The “Framework
p.000072: for Responsi- ble Sharing of Genomic and Health-Related Data” 182 highlights the fundamental principles that must be
p.000072: respected, in particular guarantees to respect privacy, data protection and confidentiality. Alt- hough it
p.000072: directs attention to the need to “Comply with applicable privacy and data protection regula- tions at every stage of
p.000072: data sharing, and be in a position to provide assurances to citizens that confi- dentiality and privacy are
p.000072: appropriately protected when data are collected, stored, processed, and exchanged"183, in the list of "Ethical
p.000072: and Legal Codes and Policies Guiding Data Sharing Behavior" giv- en in the annex to this document, none of the European
...
p.000072: Article L. 1131-1, the examination of a person’s genetic characteristics for the purpose of scientific
p.000072: research may be performed using that person’s body components sampled for other purposes, on the condition
p.000072: that the person, having been informed of the research project, has made no ob- jection”.
p.000072: 181 https://genomicsandhealth.org/about-global-alliance and Partage mondial des données génomiques et cliniques:
p.000072: une première étape pour la Global Alliance, Inca, 5 March 2013, http://www.e-
p.000072: cancer.fr/Actualites-et-evenements/Actualites/Partage-mondial-des-donnees-genomiques-et-cliniques-
p.000072: une-premiere-etape-pour-la-Global-Alliance
p.000072: 182 Framework for Responsible Sharing of Genomic and Health-Related Data
p.000072: http://genomicsandhealth.org/files/public/Framework%20%28French%20translation%29.pdf 183 Ibid., 6.
p.000072:
p.000072:
p.000072:
p.000072: Opinion N° 124
p.000072:
p.000072:
p.000073: 73
p.000073:
p.000073: being of a personal nature but not health related. Although currently the subject often gives rise to confident
p.000073: speculation that this avalanche of data will be the new Eldorado for medical research184, it cannot be denied that
p.000073: reflection on the legal rules for the protection of personal data extracted in extremely varied circumstances (medical
p.000073: and non medical) is still embryonic.
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
p.000073:
...
p.000075: declared in 1986. (June 1990)
p.000075: Focusing on prenatal diagnosis, in particular for pre-implantation purposes, CCNE was very guard- ed on PID.
p.000075: ➢ OPINION N° 25 Opinion regarding the application of genetic testing to individual studies, family studies and
p.000075: population studies (June 1991).
p.000075: The extraordinary expansion of knowledge as a result of the swift development of genetic testing is an invitation to
p.000075: consider issues with regard to applications, apparently beneficial for individuals and for public health but also with
p.000075: potentially negative effects. CCNE insisted on the quality of the information which is the essential medium for all
p.000075: genetic testing applications. It also analysed issues related to ‘DNA banks’, cell ‘banks’ and computerised data.
p.000075: ➢ OPINION N° 27 Opinion that the human genome should not be used for commercial purposes. (De- cember 1991)
p.000075: While considering the possibility of products or processes derived from genome sequencing being patented, if specific
p.000075: conditions are met, CCNE stood firm on the principle that genes cannot be patented. The Committee insisted that
p.000075: any knowledge concerning the genome must be made open to the entire community.
...
p.000075:
p.000075:
p.000075:
p.000075: Opinion N° 124
p.000075:
p.000075:
p.000076: 76
p.000076:
p.000076: Opinion recalling that “The basic principle of predictive medicine is to forecast the appearance of certain diseases
p.000076: before their symptoms are expressed. However, there are grave uncertainties about the value of the predictions
p.000076: and whether it is truly possible to prevent the conditions, and also whether this form of prevention is truly
p.000076: beneficial to individuals and to society.” The Opinion put emphasis on the right not to know.
p.000076: ➢ OPINION N°57 Technical progress, health and societal models: the ethical dimension of collective choices (March
p.000076: 1998)
p.000076: CCNE considered the ethical dimension of collective health policies, identification of priorities and procedures for
p.000076: settling inevitable conflict between certain individual aspirations and collective ne- cessities, in the context of
p.000076: very rapidly evolving medical technology and its now dominant position in medicine. The Opinion analysed the question
p.000076: of health confronted by the concept of economic containment.
p.000076: ➢ OPINION N° 76 Regarding the obligation to disclose genetic information of concern to the family in the event of
p.000076: medical necessity (April 2003)
p.000076: CCNE analysed the ethical issues with regard to informing relatives while strictly observing medi- cal confidentiality.
p.000076: The Committee considered that “It would be counter productive if the very notion of genetic screening were to
p.000076: create a priori reluctance for those who might feel threatened by compulsory disclosure of their biological privacy.”
p.000076: ➢ OPINION N° 77 Ethical issues raised by collections of biological material and associated infor- mation
...
p.000077: ➢ OPINION N° 100 Migration, filiation and identification by genetic testing. (October 2007)
p.000077:
p.000077: A short and critical Opinion on certain moves calling for the use of modern genetic identification methods to limit the
p.000077: immigration of family members joining their relatives. CCNE recalled a num- ber of fundamental principles on
p.000077: filiation and the inalienable right to the protection of genetic privacy.
p.000077: ➢ OPINION N° 104 The “Personal Medical Record” and computerisation of health-related data. (May 2008)
p.000077:
p.000077:
p.000077: Opinion N° 124
p.000077:
p.000077:
p.000078: 78
p.000078:
p.000078: While it recognised the medical value of being able to share information without difficulty, in par- ticular for the
p.000078: management of serious and/or chronic disease, CCNE pointed out the danger of computerised (not ‘paperless’) data
p.000078: for medical confidentiality, the right ‘not to know’, the right to ‘oblivion’ and, more generally personal privacy.
p.000078: ➢ OPINION N° 107 Opinion on ethical issues in connection with antenatal diagnosis: Prenatal Diag- nosis (PND) and
p.000078: Preimplantation Genetic Diagnosis (PGD). (October 2009)
...
p.000080: personalized information we need to keep ourselves and our families healthier.” 185 This promising systemic
p.000080: medicine is strongly supported by American public opinion. The precision medicine concept put forward by President
p.000080: Obama is similar to ‘4P’ medicine: predic- tive, personalised, pre-emptive/preventive and participative186. It is a
p.000080: step forward from a purely ge- netic contribution, albeit a foundational one, to medical science. This was
p.000080: expressed in October 2012, by the American Presidential Commission for the Study of Bioethical Issues
p.000080: reporting on “...whole genome sequence data” and their “enormous promise to advance clinical care and general health.”
p.000080: It allowed that “While many of the potential benefits arising from whole genome sequenc- ing will accrue to the
p.000080: broader public, the risks associated [...] will be borne disproportionately by the individuals whose data are being
p.000080: shared”.187
p.000080: Many international forums and ethics committees have reflected on the future — which is some- times
p.000080: described as inescapable — of human genetics now that very high throughput DNA sequencing is upon us. Neither a
p.000080: complete list of such studies nor an exhaustive analysis of them has a place in this document. Closer to us are the
p.000080: six reports written by the British Human Genetics Commission188, the Nuffield Council on Bioethics report published in
...
p.000080:
p.000080:
p.000081: 81
p.000081:
p.000081: lines the need to refrain from reducing the definition of ‘quality of life’ to a collection of medical or genetic
p.000081: data190.
p.000081:
p.000081: In view of certain opinions reflecting a degree of fascination for technical and scientific
p.000081: advances in modern human genomics (see one example in the box on this page191) there are
p.000081: recurrent issues concerning the integration of global genome sequencing into clinical medicine as
p.000081: well as on the conservation of access to, and the use made of, sequencing data for research purposes. With
p.000081: the ambition of making science and health policies
p.000081:
p.000081: Increasing options, informing choice: A report on precon- ception genetic testing and screening
p.000081: The Human Genetics Commission – April 2011
p.000081: Having considered the issues associated with preconception genetic testing, in our view, there are no specific ethical,
p.000081: le- gal or social principles that would make preconception ge- netic testing within the framework of a population
p.000081: screen- ing programme unacceptable. Indeed, there are good rea- sons why earlier testing is favoured over later
p.000081: testing, as it facilitates wider patient choice and improved access
p.000081: to information supporting reproductive decision-making.
p.000081: sufficiently flexible and astute for them not to inhibit the capacity for adapting to an evolving
p.000081: technology and social standards for privacy, a number of ethics committees, in particular in the English
p.000081: speaking world, are seeking to draft recommendations with the aim of providing a framework and a set of good practices
p.000081: and thereby the means with which to manage science and technology as they apply to health policies, both public and
p.000081: individual. A remaining doubt, however, is whether such ambitions are altogether realistic.
p.000081: As they apply to whole populations, in particular as regards health (predictive medicine) the rules for good practices
p.000081: and the legislation in individual countries still no doubt have meaning, but are they still useful at a time when the
p.000081: frontiers — geographic or time-related — of genetics have long ago collapsed ?
p.000081: One particular case is that of research in human genetics which requires the creation of international cohorts in order
p.000081: to differentiate a ‘normal’ variant from a ‘pathological’ one, and thereby understand the concept of individual
p.000081: variability as compared to a norm, often very difficult to define (let us remember that the very concept of
p.000081: ‘normal’ DNA is an absurdity). We are referring here to projects like the “Personal Genome Project” (PGP) whose
p.000081: purpose is to arrive at sequencing data on genomic,
p.000081:
...
p.000081: the issues associated with preconception genetic testing, in our view, there are no specific ethical, legal or social
p.000081: principles that would make preconception genetic testing within the framework of a popula- tion screening program
p.000081: unacceptable. Indeed, there are good reasons why earlier testing is favored over later testing, as it facilitates wider
p.000081: patient choice and improved access to information supporting reproductive de- cision-making.
p.000081:
p.000081:
p.000081:
p.000081: Opinion N° 124
p.000081:
p.000081:
p.000082: 82
p.000082:
p.000082: environmental and human traits, or the “Global Alliance for Genomic and Health” whose aim is,
p.000082: rather than generating sequences, to define the regulation and safe pooling of data at a global level.
p.000082:
p.000082: These scientific resources emanate from data supplied by volunteers who authorised the sequencing of their genomes and
p.000082: who are informed of the ethical, legal and technical aspects of the research in which they accepted to participate.
p.000082: The “Global Alliance for Genomics and Health” Working Group on Regulation and Ethics (chaired by Bartha Knoppers,
p.000082: McGill University, Montreal, Canada) has set itself the objective of elaborating an international Code of Conduct for
p.000082: the pooling of genomic and clinical data. The code is intended to define a set of ethical principles to research and
p.000082: share genomic and clinical data with special empha- sis on key issues such as free and informed consent,
p.000082: confidentiality, feedback to patients and partici- pants in research, data conservation and access. It defines
...
Health / Healthy People
Searching for indicator volunteers:
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p.000042: • The 100,000 genomes project in the United Kingdom (http://www.genomicsengland.co.uk/the-100000-genomes-project/).
p.000042: • The FarGen project aiming to sequence full genomes of the whole population of the Faroe Islands (50,000 people)
p.000042: (http://www.fargen.fo/en).
p.000042: • The recently launched “Precision Medicine” project, initiated by President Barak Obama with the intention of
p.000042: constituting a million person cohort contributing genetic and medi- cal genetic data
p.000042: (http://www.nih.gov/precisionmedicine/).
p.000042: • The “personal genome” project (PGP) which created as early as 2005 a free-access scien- tific resource collecting
p.000042: genetic, environmental and health data supplied by a global net- work of volunteers (http://www.personalgenomes.org).
p.000042: The terms of reference of these studies raise questions in our minds regarding the implicit choices from
p.000042: which they originate. For example, one might wonder about the motive for the
p.000042:
p.000042:
p.000042: 101 Gallezot Gabriel, « Exploration informationnelle et construction de connaissances en génomique », in
p.000042: Les Cahiers du numérique, 2002/3 Vol. 3, p. 121-136.
p.000042:
p.000042:
p.000042:
p.000042: Opinion N° 124
p.000042:
p.000042:
p.000043: 43
p.000043:
p.000043: constitution of a national cohort like the one in the Faroe Islands and about the biological signif- icance of a
p.000043: geographic boundary. At the other end of the scale, there could be cause for misgiv- ings regarding the criteria for
...
p.000081: unacceptable. Indeed, there are good reasons why earlier testing is favored over later testing, as it facilitates wider
p.000081: patient choice and improved access to information supporting reproductive de- cision-making.
p.000081:
p.000081:
p.000081:
p.000081: Opinion N° 124
p.000081:
p.000081:
p.000082: 82
p.000082:
p.000082: environmental and human traits, or the “Global Alliance for Genomic and Health” whose aim is,
p.000082: rather than generating sequences, to define the regulation and safe pooling of data at a global level.
p.000082:
p.000082: These scientific resources emanate from data supplied by volunteers who authorised the sequencing of their genomes and
p.000082: who are informed of the ethical, legal and technical aspects of the research in which they accepted to participate.
p.000082: The “Global Alliance for Genomics and Health” Working Group on Regulation and Ethics (chaired by Bartha Knoppers,
p.000082: McGill University, Montreal, Canada) has set itself the objective of elaborating an international Code of Conduct for
p.000082: the pooling of genomic and clinical data. The code is intended to define a set of ethical principles to research and
p.000082: share genomic and clinical data with special empha- sis on key issues such as free and informed consent,
...
Health / Mentally Disabled
Searching for indicator disability:
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p.000065: good health is harmful to the person concerned who is unable to negotiate a more favourable insurance premium.
p.000065: It was decided, firstly in the draft law on bioethics in 2001 and later in draft legislation on patients’ rights and
p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
p.000065: But it must be added that discrimination based on the state of health, “when relating to death prevention and coverage,
p.000065: risk of disabling personal injury or of work incapacity or disability” 158 are not punishable so that insurers can
p.000065: legally refuse would-be policy holders by reason of their state of health. This exception is due to the fact that an
p.000065: insurance policy is a ‘contract in good faith’ so that a person seeking insurance is bound to “respond truthfully to
p.000065: questions asked by insurers […] regarding the circumstances enabling the company to evaluate the risks it is
p.000065: underwriting” 159.
p.000065: However, information requested by an insurance company only applies to what is known with certainty at the
p.000065: time the statement is made. For this reason two further rules were adopted: on the one hand, insurers cannot make use
p.000065: of genetic information that candidates for insurance may have spontaneously contributed, nor may they ask them
...
p.000066: Gradually, an ever growing number of pathologies were covered. Initially, molecular biolo- gy was used to solve a
p.000066: specific problem: diagnosing prenatally a limited group of disorders. Later, its scope extended to cover any disease
p.000066: with a genetic component, which raises in particular the issue of predicting the adult onset of a disease with no known
p.000066: cure. As time went by, prenatal diagnosis became increasingly extensive so that there was a risk of more frequent
p.000066: foetal selection and, by way of consequence, fears that a new form of eugenics would emerge. This would no longer be
p.000066: govern- ment policy but instead correspond to individual preferences, with the result that society would be- come
p.000066: intolerant of disability, and thus it “...could, unwittingly, lead to discrimination as to who will be born” as CCNE
p.000066: feared CCNE in its Opinion n° 107 in October 2009 on “ethical issues in connection with antenatal diagnosis:
p.000066: Prenatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)”.
p.000066:
p.000066:
p.000066: Opinion N° 124
p.000066:
p.000066:
p.000067: 67
p.000067:
p.000067: Prenatal diagnosis was initially regulated by the provisions of the law N° 94-654 dated July 29, 1994 and was defined
p.000067: as follows: “it describes medical practices aiming to detect in utero in the embryo or foetus a particularly severe
p.000067: affection. It must be preceded by medical consultation appropriate to the disorder under research.” This is a broad
...
p.000078: This Opinion was concerned with biobanks and the use made of them and with the identification of stored samples.
p.000078:
p.000078:
p.000078:
p.000078:
p.000078:
p.000078: Opinion N° 124
p.000078:
p.000078:
p.000079: 79
p.000079:
p.000079: ➢ OPINION N°120 Ethical issues in Connection with the development of foetal genetic testing on maternal
p.000079: blood. (April 2013)
p.000079: CCNE considered developments in human genomic tools which do not always lead to therapeutic progress. They do inform
p.000079: parents on their future child’s chances of being affected by a particular- ly severe genetic disease or disability and
p.000079: are therefore helpful in providing improved gestation management. They raise a large number of ethical issues however
p.000079: which society must address.
p.000079: CCNE’s thinking was that the ongoing and very rapid developments of human genomic technology can not be disregarded.
p.000079:
p.000079:
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p.000079:
p.000079:
p.000079:
p.000079: Opinion N° 124
p.000079:
p.000079:
p.000080: 80
...
Health / Mentally Incapacitated
Searching for indicator incapable:
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p.000051: when he or she would still be responsible for providing not only pregnancy follow up but also the follow up of the
p.000051: child’s life after birth.” What is true for a prenatal diagnosis, is even more ap- plicable to all the facets of
p.000051: ‘genetic medicine’.
p.000051: As discussed above, the evolutionary nature of the information provided by large scale DNA se- quencing puts physicians
p.000051: in a special position where they must answer to their patients but also to scientific progress, where they are both
p.000051: clinicians and partners in research. One important consequence of the diversity and complexity of medical data is the
p.000051: risk that physicians become ‘incapable’ of understanding the data they receive and therefore unable to report
p.000051: and explain them to their patients.
p.000051: Genetic data being a subject for research, this means that it opens up horizons at least as much as it provides
p.000051: answers, thus creating a certain amount of perplexity: we are not sure where all this is taking us. Our thinking on
p.000051: the subject should therefore enable us to single out the issues to which physicians obviously, but also educators
p.000051: and teachers, society and legislators should devote attention, although we are still unsure of the exact perimeter
p.000051: of these new areas. Taking into account the great number of players, some of whom are offering purely
p.000051: commercial ser- vices, how do we determine who will be answerable and how reliable and comprehensible in- formation
...
Health / Motherhood/Family
Searching for indicator family:
(return to top)
p.000020: 6- Fields of application
p.000020:
p.000020: Genetic studies are generally undertaken for medical purposes and, less frequently, outside the scope of medical use
p.000020: for forensic or criminological pursuits (DNA forensics) or, more recently, as part of what goes under the name of
p.000020: ‘recreational genetics’. In a medical context, genetic analy- sis seeks to identify the cause of a disease or the
p.000020: genetic profile to which it is attached, the causal link not always being easy to find. In other contexts, it is the
p.000020: individual’s identity, or history or origin which is the subject of genomic research. DNA being heredity’s
p.000020: major carrier, DNA se- quencing provides particular information (biological) relating to family
p.000020: history (paterni- ty/filiation/genealogy) and geography (geographical origins, ancestors, migration, etc.).
p.000020: a- Medical approach
p.000020:
p.000020: 41 In certain cases, for instance The Personal Genome Project (PGP), participants accept the risk of identifi- cation
p.000020: through genetic and personal data becoming public (http://www.
p.000020: person- algenomes.org/data/PGP12.05/)
p.000020: 42 “Use it or lose it” as an alternative approach to protect genetic privacy in personalized medicine. Wagner JK,
p.000020: Mozersky JT, Myeritz RE. 2014. Urol. Oncol.; 32: 98-101.
p.000020: 43 Knoppers BM. “Consent to personal genomics and privacy”. 2010. EMBO rep.; 11: 416-419.
p.000020:
p.000020:
p.000020:
...
p.000021: simple change in scale, albeit a major change in scale, and it leads to a not unreasonable expectation of medicine
p.000021: targeting the genome, or ‘precision’ medicine, still frequently and loosely designated by the name ‘personalised
p.000021: medicine’.
p.000021: There must be a clear distinction between constitutional genetic modifications, those which were present in
p.000021: the one-celled egg — or zygote — and will therefore be found in every cell of the body, and ‘somatic’ modifications
p.000021: which are acquired by a few cells during the course of the life of an organism, such as for instance in cancer genesis.
p.000021: The first category of modifications are present in the gametes and often inherited from ances- tors (they may also be
p.000021: acquired de novo) and are transmitted to descendants. They therefore in- volve the family.
p.000021: • In this constitutional genetic context, genetic studies have led to considerable advances: the number of
p.000021: Mendelian diseases which could be attributed to certain mutations of a single gene, numbered a total of 5 in
p.000021: 1982, 150 in 1990 and nearly 3,000 in 2011. In the particular case of neonatology, this may concern etiological
p.000021: research in the presence of a clinical symp- tomatology without any specific diagnosis (malformation, mental
p.000021: retardation), which is only successful in a quarter of cases. Or it may be a process of systematic neonate DNA
p.000021: analysis, in the absence of any specific warning sign, so as to reveal genetic defects and in the event of positive
...
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
p.000023: genealogical research and claim respectively a hundred and twenty thousand and six hundred thousand clients”. (B
p.000023: Jordan. 2013. Med Sci (Paris); 29 : 1167–1170). The market is estimated as being worth US$250 million by 2018.
p.000023: 50 As regards criminal investigation, based on genetic material found on the crime scene, information can be extracted
p.000023: on the physical appearance of the unknown person (sex, eye, hair and skin colour, etc.). The
p.000023:
p.000023:
p.000023:
p.000023: Opinion N° 124
p.000023:
p.000023:
p.000024: 24
p.000024:
p.000024: Nor should it be forgotten that the advent of new sequencing techniques could modify the scope of behavioural genetics,
...
p.000027: people’s DNA sequence throughout their whole life may give them the impression that such a sequence represents a firm
p.000027: rock foundation for their personality, even though it is equally true that human beings cannot be reduced to their sole
p.000027: biology and even less to their ge- netic makeup. And yet, as part of a person’s self, sharing their genetic portion
p.000027: can be, and is in fact claimed as a right, at a time when social networks on the Internet are significantly modifying
p.000027: the boundaries of ‘privacy’ 67, so that what certain currents of opinion describe as ‘recreational genomics’,
p.000027: essentially representing access to the discovery of one’s origins, family ties and gene- alogy, is publicly available
p.000027: on forums; in this way, the notion of ‘family reunion’ seems close, in this respect, to that of ‘friend’ on certain
p.000027: social networks.
p.000027: Nevertheless, the rigorous parting of ways between recreational and medical aspects is not so easy to order. There is
p.000027: a degree of ambivalence insofar as recreational activities may be very rapidly challenged by more or less
p.000027: significant genetic discoveries, with varying measures of medical predictive potential.
p.000027: 2- Increasing merchandisation of technology
p.000027:
p.000027: Although at this point we have only a partial view of the way in which genetic factors influence the risk of what we
p.000027: call common ailments, we are already seeing massive financial investment in molecular genomic centres which are
...
p.000032:
p.000032:
p.000032: Opinion N° 124
p.000032:
p.000032:
p.000033: 33
p.000033:
p.000033: Genetic data produces information of different kinds and pertinence. In some cases, the infor- mation was wanted.
p.000033: It is to obtain it that the test was prescribed or requested. Some infor- mation is pertinent but was not
p.000033: asked for (incidental and/or secondary). There is information which is available but for which pertinence and
p.000033: clinical usefulness have not yet been established although that may happen in the future. High throughput screening
p.000033: which reads an entire ge- nome will necessarily produce a mass of non targeted data. Furthermore, some of this data
p.000033: is not strictly individual. It affects families and can therefore also be of use to the patient’s family. We should
p.000033: not forget the ‘information illusion’ 82 created by the predictive potential of genetics.
p.000033: Processing this information — most of which is uncertain both as regards significance and
p.000033:
p.000033: therefore consequences for the individuals con- cerned — in an ethical manner, requires that it be differentiated
p.000033: and classified and that any related issues of consent be identified. Patients may then consent to one part without
p.000033: necessarily being obliged to consent to another. Full analysis of a genome requires justification for its
p.000033: necessity (need to solve a clinical problem) and its propor- tionality (balance between advantages and
...
p.000033:
p.000033:
p.000034: 34
p.000034:
p.000034: B- The genome: where personal privacy, the heritage and common property converge
p.000034:
p.000034: It is now clear that when the bulk of the data from DNA sequencing is available — not just the status of a few
p.000034: targeted genes — an individual’s identity can be discovered. Despite a certain degree of genomic plasticity
p.000034: (somatic mutations detectable during carcinogenesis, for example) such data is largely invariant, so that it can be
p.000034: used in forensic medicine. It does not, however, determine a person. Rather it represents a set of possibilities of
p.000034: being, unique to an individual, and as such relates to that individual’s private life as much as to his or her
p.000034: identity. And yet, these possibilities are shared by others who, particularly within a family, have
p.000034: received them and transmit them as so many components of their heritage. UNESCO’s Universal Declaration on the Human
p.000034: Genome and Human Rights states in Article 1 of the human genome that “In a sym- bolic sense, it is the heritage of
p.000034: humanity”84 and is therefore common property.
p.000034: 1- Can sequencing data be made anonymous?
p.000034:
p.000034: A recent article highlighted the fact that a person who has anonymously donated DNA sequenc- ing data, in particular
p.000034: for research, can be identified with the help of easily accessible research on the Internet.85 This experiment
p.000034: illustrates what the theory and practice of forensic medicine implies: DNA sequencing is unique to an individual and
p.000034: could therefore identify that individual if sequencing and personal data were accessible, although the risk of this
...
p.000034: quantities of personal data, photographic data in particular. In the same way as concealing one’s name be- hind a
p.000034: pseudonym or an avatar is no guarantee of anonymity, the relative efficacy if not down- right fragility of DNA
p.000034: sequencing anonymisation is anything but infallible protection of private data.
p.000034: With regard to genetic data, DNA sequencing components do not always contain biological in- formation of any great
p.000034: intrinsic significance. There has to be the possibility of combining them with medical or non medical phenotypic
p.000034: data. This is where the threat to anonymity is the
p.000034:
p.000034: 84 “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
...
p.000037: Preimplantation Genetic Diagnosis (PGD)”, and N° 120 (2013) on “Ethical Issues in Connection with the Development of
p.000037: Foetal Genetic Testing on Maternal Blood”, to which the reader may wish to refer.
p.000037: 93 A heterozygous individual carries two different copies of a given gene for a particular trait, inherited from each
p.000037: parent. This is referred to as carrying two different alleles. In the case of a ‘recessive’ genetic disease, the
p.000037: heterozygous carrier of a mutation is referred to as a healthy carrier and does not express the disease.
p.000037:
p.000037:
p.000037:
p.000037:
p.000037: Opinion N° 124
p.000037:
p.000037:
p.000038: 38
p.000038:
p.000038: process when there is an index case in the family. It therefore concerns, a priori, couples in which
p.000038: both parents might be a heterozygous carrier of a predisposition for a severe pathology, but in the future it could
p.000038: extend to the population at large, i.e. to people who are not, a priori, at risk.
p.000038: This possibility was raised in Opinion N° 120: “The idea would be that before conceiving, or be- fore any plan to bear
p.000038: children, genetic tests would be
p.000038:
p.000038: initiated to check whether both members of the cou- ple are carriers for a harmful mutation of the same gene, one
p.000038: involved in a serious and currently incura- ble disease, giving rise to the option of therapeutic termination
...
p.000045: of onset of a disease or of an inherited disa- bility, or an anomaly for which the causal
p.000045: The HeLa cells: an emblematic case of human genetic material
p.000045: conservation.
p.000045: In 1951 American researchers sampled cells from the cervical cancer tumour of a young impoverished black
p.000045: woman without her knowledge or consent. These were the first human cells that researchers were able to keep alive
p.000045: permanently. They were used to elucidate certain molecular and genetic mechanisms of carcinogenesis as well as for
p.000045: countless other biological research projects. They were used in the production of biological products, such as
p.000045: Salk’s polio vaccine.
p.000045: When they discovered incidentally the existence of these cells, members of the patient’s family were dismayed by the
p.000045: fact that they had never been informed of the situa- tion nor been given any explanation. Publication of the DNA
p.000045: sequence of the HeLa cells genome, probably con- sidered by researchers to be common property, raised the issue
p.000045: of public dissemination of private genetic data. Negotiations between the NIH management and mem- bers of the
p.000045: family led to rules being established for shar- ing the HeLa cells genome sequencing*. On this occa- sion,
p.000045: Francis Collins, Director, US National Institutes of Health, remarked that the situation created by the DNA
p.000045: sequencing of the HeLa cells demonstrated that ethical policy was several years or maybe several decades
p.000045: lag- ging behind science and that it was time to update it.
p.000045: *Hudson KL., Collins FS. (2013) Biospecimen policy: Family matters. Nature; 500: 141-142
p.000045: link with the phenotype is unknown. Here again, it is the permanency of the media used to store the genetic
p.000045: information in a database and the evolutionary nature of the knowledge to which it gives access which raise issues.
p.000045: Can the burden of such information be imposed on a future adult who might have preferred to claim the right
p.000045: not to know?
p.000045: 5- The right to know, the right not to know
p.000045:
p.000045: The generalisation of genetic data raises the issues of wanting to know, needing to know, or even having
p.000045: the right to know, but also what is left of the right not to know106,107.
p.000045:
p.000045: 106 There are cases where prevention and treatment overlap: up to quite recently, the issues arising out of the
...
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p.000046: 108 Green RC, et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome
p.000046: sequencing. Genet Med.; 15: 565–574.
p.000046: 109 Burke W, et al. (2013). Recommendations for returning genomic incidental findings? We need to talk!
p.000046: Genet Med.; 15:854-859.
p.000046: 110 These questions highlight the fact that our genetic heritage, the DNA sequence that identifies us as in-
p.000046: dividuals, does not belong to the individual; it is shared with the individual’s family. It was inherited and will be
p.000046: passed on to future generations but we have no control over what is transmitted nor over the
p.000046: ‘normality’ of what is transmitted.
p.000046:
p.000046:
p.000046:
p.000046:
p.000046: Opinion N° 124
p.000046:
p.000046:
p.000047: 47
p.000047:
p.000047: IV / Main issues arising out of this reflection
p.000047: Rapidly progressing technology in genetics inspired in CCNE the need to continue its considera- tion of the subject in
p.000047: the light of the generalisation of high throughput DNA sequencing and its impact on medicine and society. This
p.000047: technological progress with faster, cheaper and more reli- able analyses has become feasible thanks to considerable
...
p.000047: sometimes called, plays a major role: medical practices, free and informed consent, privacy. We may indeed
p.000047: be faced with a genetic revolution, but this is a change of scale rather than a hitherto unknown set of circumstances.
p.000047: Questions such as “How should the right not to know be respected?” or “What should be done about incidental findings”
p.000047: are by no means new. Medical imaging (for example emergency ab- dominal CT scans leading to a large number of
p.000047: “incidentaloma”111 findings) and biological tests have been raising identical problems for quite some time.
p.000047: Similarly, the question of personal in- formation and whether it concerns other members of the family is not a new one.
p.000047: It already ex- isted when members of the medical professions needed to ask about family history.
p.000047: Nor is the difficulty of making personal genetic data anonymous a new and singular problem, even though
p.000047: it is even more critical. Nevertheless, although the change in scale does not make
p.000047:
p.000047:
p.000047: 111 Kelly ME, et al. Incidental findings detected on emergency abdominal CT scans: a 1-year review. Ab- dom Imaging.
p.000047: 2015; Jan 10.
p.000047:
p.000047:
p.000047:
p.000047: Opinion N° 124
p.000047:
p.000047:
p.000048: 48
p.000048:
p.000048: any previously unheard of contribution to the issue, it does magnify existing problems concern- ing how this should be
p.000048: done and the ethical obligation to find out whether the new techniques are of benefit to the majority without
p.000048: encroaching on the rights of individuals.
...
p.000059:
p.000059:
p.000060: 60
p.000060:
p.000060: V / Annexes
p.000060: A. Analysis of the legal context
p.000060:
p.000060: 1- Examination of genetic characteristics
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
p.000060: prenatal development. The purpose of the analysis is to “either make, confirm or refute a genetic diagnosis, or to
p.000060: search for the characteristics of one or several genes that could cause disease in a person or in potentially concerned
p.000060: members of that person’s family, or to adjust medical treat- ment to match a person’s genetic traits” 131 . The rules
p.000060: applicable are not those normally regulating the decisions that a sick person who has requested the advice of a
p.000060: physician might ordinarily be tak- ing: they are based on the full information provided by the physician132 as a result
p.000060: of a global analysis of a person’s state of health, so that an informed decision can be made, i.e. accepting or
p.000060: rejecting the physician’s proposals133. Nor are the rules those applicable to biomedical134 tests. Instead, they are
p.000060: specific to bioethical135 medical practices which are particular in that they are controlled, unlike
...
p.000061: As a result, specific rules are prescribed for genetic testing138, as is also the case for other practices, because in
p.000061: this genetic context, we are dealing with medicine for the identification of a disorder ra- ther than medicine for a
p.000061: patient, a disorder which, being genetic, suggests that a biological future is written into the depths of a gene the
p.000061: subject carries. Moreover, evidence of the disease only implies, except in some rare cases, a probability of onset of a
p.000061: disease that often can neither be treated nor prevented. Uncertainty therefore is characteristic of this type of
p.000061: situation. Finally, the person carry- ing the harmful gene is of course directly concerned, but so are others:
p.000061: descendants to whom the gene may be transmitted and members of the family. As a result, rules governing the
p.000061: examination of genetic traits are different because there is the intention that genetic tests should not be dealt with
p.000061: as would be an ‘ordinary’ biomedical test and because this test may have consequences affecting other
p.000061: people than the person submitting to the test.
p.000061: The law puts two constraints on the physician as regards securing consent and providing information; but in both cases
p.000061: they differ from those applicable to patients as set out in the March 4, 2002 law on patients’ rights. The law
p.000061: distinguishes between the decision taken by the patient and the possible provision of the care required by the
p.000061: patient’s condition. Information, which has been one of the recognised rights of patients139 since the adoption of
...
p.000061: treatment required for its implementation may be performed
p.000061:
p.000061:
p.000061: 137 For example, in the particular case of genetic testing, they can only be done in the biomedical laborato- ries
p.000061: specifically authorised to do so (Article L. 1131-2-1 par. 1 of the French Code of Public Health. The test may be
p.000061: carried out only by practitioners who have been authorised to do so by the Agence de la Bio- médecine (Article L.
p.000061: 1131-3 of the French Code of Public Health). Furthermore, depending on whether pa- tients themselves are showing
p.000061: symptoms of a genetic condition or are patients without symptoms but with a family history of disease,
p.000061: prescription is dispensed individually or also individually but by a physi- cian working in a “multidisciplinary
p.000061: team of medical practitioners combining both clinical and genetic qualifications (Article R. 1131-5 of the
p.000061: French Code of Public Health).
p.000061: 138 In this context, Elsa Supiot points out the lawmaker’s decision to formulate a ‘genetic exception’. E. Su- piot,
p.000061: Les tests génétiques, contribution à une étude juridique, thesis Paris I, 2013, p. 10 and s. Presses Uni- versitaires
p.000061: d’Aix-Marseille (PUAM), 2014, 40 and s.
p.000061: 139 “Everyone is entitled to information on the state of his or her health”: article L. 1111-2 par. 1 of the French
p.000061: Code of Public Health.
...
p.000062: patient rights.
p.000062: There are also rules organising the practice of genetic testing as referred to in the French Code of Public
p.000062: Health. First of all, the general rule in the Code Civil on this subject, the obligation on the phy- sician to secure
p.000062: prior consent is reiterated, taking into consideration that since the adoption of the August 6, 2004 Law on Bioethics,
p.000062: this rule is no longer set out and is simply brought up by reference to the Code Civil143. Then, as a second step,
p.000062: rules relating to information are set out as two obliga- tions, one on the prescribing physician to inform the subject,
p.000062: before the test, of the risks that silence on the subject’s part would entail for members of the family in
p.000062: the event that a serious genetic anomaly were to be diagnosed; and the other obligation on the person submitting
p.000062: to the test to in- form the family of the results of the test144. But it should be made clear that these two
p.000062: obligations only concern the circumstances where the anomaly can be alleviated preventively or by treatment. These
p.000062: obligations are evidence of the familial specificity of these diseases, since, as CCNE remarked in its Opinion n° 76145
p.000062: “...the results of a genetic test are not the sole concern of the proband. They also affect the whole family,
p.000062: ascendants, descendants, collaterals, and possibly spouse.” It would seem that the information to be
p.000062: provided to the family is so essential that it obscures the infor- mation which one would expect to see
p.000062: communicated to the test subject, but which is not referred to in the law, so that one needs to consult the regulatory
p.000062: arrangements in order to discover the exact
p.000062:
p.000062:
p.000062:
p.000062:
p.000062: 140 Article L. 1111-4 par. 4 of the French Code of Public Health.
p.000062: 141 These two rules — information and consent — are only cumulative when the decision implies medical intervention or
p.000062: the administration of treatment.
p.000062: 142 Article 16-10 par. 2 of the French Code Civil.
p.000062: 143 This rule was repeated in Article L. 1131-1 para.1 of the French Code of Public Health, but was no long- er to be
p.000062: found in the version of the August 6, 2004 Law on bioethics; it now only states that testing a per- son’s genetic
p.000062: traits is regulated both by the Code Civil and by the articles of the Code of Public Health re- ferring to it. As it
p.000062: stands, it becomes difficult to understand the paragraph 2 which follows and which pro- vides for exceptions to this
p.000062: general rule, without explanation.
p.000062: 144 Either in person or through the prescribing physician.
p.000062: 145 CCNE, Opinion n°76, Regarding the obligation to disclose genetic information of concern to the family in the
p.000062: event of medical necessity, April 24, 2003.
p.000062:
p.000062:
p.000062:
p.000062: Opinion N° 124
p.000062:
p.000062:
p.000063: 63
p.000063:
p.000063: contents of the information received146. Nevertheless, communication of genetic information to rel- atives seems to be
p.000063: so justifiable that, even though they never asked for the information, the issue is ignored of finding out whether they
p.000063: want or do not want to know147. And yet, the subject of the test may refuse to know the results while authorising the
p.000063: prescribing physician to inform other members of the family, thus effectively forcing the information on to them148.
p.000063: Once the genetic testing is completed, communication of the results149 is dealt with according to rules
p.000063: specific to genetic tests instead of the general rules regulating biomedical test results. Whereas the latter are
p.000063: communicated to both the prescriber and to the patient150, with genetic tests it is the prescribing physician who
p.000063: communicates the results to the person concerned and possibly to mem- bers of the family151.
p.000063: Following the example of Article 12 of the Oviedo Convention, these rules only concern genetic test- ing for health
p.000063: purposes: “Tests which are predictive of genetic diseases or which serve either to iden- tify the subject as a carrier
...
p.000063: genetic counselling.” But ten years after being adopt- ed, the Additional Protocol on Genetic Testing, dated May 7,
p.000063: 2008, observed “...an increase in the
p.000063:
p.000063: 146 Article R. 1131-4 para. 1 of the French Code of Public Health: “... the person is informed of the character-
p.000063: istics of the medical condition being researched, of the means of detecting it, of the degree of reliability at- tached
p.000063: to test results and also of possibilities for prevention and cure. The person is further informed of the condition’s
p.000063: particular mode of genetic transmission and of possible consequences for other members of the person’s family.” The
p.000063: only clear and precise indication of the contents of the information to be imparted is given in the rules of good
p.000063: practice applicable to the examination of a person’s genetic traits for medical reasons as set out in the 27 May 2013
p.000063: Decree.
p.000063: 147 Article L. 1131-1-2 para. 1 of the French Code of Public Health: “… if the person has expressed in writing a wish
p.000063: not to be informed of the diagnosis, he or she may authorise the prescribing physician to inform those concerned in
p.000063: compliance with provisions in the paragraph 4”.
p.000063: 148 The December 8, 2014 Decree defining the rules of good practice for informing relatives on the results of genetic
p.000063: testing for medical purposes, does not consider this issue at all. It focuses entirely on defining a severe medical
p.000063: condition caused by genetic anomalies, or a preventive measure or a cure for that condi- tion. It also devotes
p.000063: attention to the physician’s obligation to provide information on the risk of loss of opportunity to seek medical help
p.000063: incurred by potentially concerned members of the family due to the sub- ject’s refusal to pass on the information to
p.000063: them. Finally, it calls attention to the subject’s obligation to in- form his or her family of the results of
p.000063: diagnostic testing for genetic anomalies which could lead to the on- set of a serious condition when preventive
p.000063: measures or care can be helpful: December 8, 2014 Decree, of- ficial publication n° 0293, JO, text N° 63.
p.000063: 149 Article L. 6211-6 of the French Code of Public Health: “...a biomedical test of a person’s genetic traits […] is
p.000063: governed by the articles of this document as well as to those comprising chapter 1 of title III of book 1 of the first
p.000063: part”.
p.000063: 150 Based on Article L.1111-2 of the Code of Public Health stating that : ““a member of the medical profes-
p.000063: sions within the context of his or her qualifications will communicate the information.”
...
p.000075: not become a marketable object or be used as means of pressure on an individu- al (emphasis on free will and risks of
p.000075: discrimination). CCNE called attention to the dangers of stor- ing results provided by identification techniques using
p.000075: DNA analysis.
p.000075: ➢ OPINION N° 19 Opinion on embryo research aiming to achieve pre-transfer genetic diagnosis for which a moratorium was
p.000075: declared in 1986. (June 1990)
p.000075: Focusing on prenatal diagnosis, in particular for pre-implantation purposes, CCNE was very guard- ed on PID.
p.000075: ➢ OPINION N° 25 Opinion regarding the application of genetic testing to individual studies, family studies and
p.000075: population studies (June 1991).
p.000075: The extraordinary expansion of knowledge as a result of the swift development of genetic testing is an invitation to
p.000075: consider issues with regard to applications, apparently beneficial for individuals and for public health but also with
p.000075: potentially negative effects. CCNE insisted on the quality of the information which is the essential medium for all
p.000075: genetic testing applications. It also analysed issues related to ‘DNA banks’, cell ‘banks’ and computerised data.
p.000075: ➢ OPINION N° 27 Opinion that the human genome should not be used for commercial purposes. (De- cember 1991)
...
p.000076: 1998)
p.000076: CCNE considered the ethical dimension of collective health policies, identification of priorities and procedures for
p.000076: settling inevitable conflict between certain individual aspirations and collective ne- cessities, in the context of
p.000076: very rapidly evolving medical technology and its now dominant position in medicine. The Opinion analysed the question
p.000076: of health confronted by the concept of economic containment.
p.000076: ➢ OPINION N° 76 Regarding the obligation to disclose genetic information of concern to the family in the event of
p.000076: medical necessity (April 2003)
p.000076: CCNE analysed the ethical issues with regard to informing relatives while strictly observing medi- cal confidentiality.
p.000076: The Committee considered that “It would be counter productive if the very notion of genetic screening were to
p.000076: create a priori reluctance for those who might feel threatened by compulsory disclosure of their biological privacy.”
p.000076: ➢ OPINION N° 77 Ethical issues raised by collections of biological material and associated infor- mation
p.000076: data : " biobanks", " biolibraries." (March 2003)
p.000076: This Opinion carried out an in-depth review of collections of biological objects and their conserva- tion in
...
p.000077: In this opinion which has a broader impact than pure genetic identification, CCNE was concerned by the tendency to
p.000077: generalise the collection of biometric data and the ensuing risks to individual liberties. Such risks are aggravated
p.000077: by the possibility of exchanging stored data which could well be misappropriated for illicit purposes. The
p.000077: Committee called for public debate on this funda- mental issue.
p.000077: ➢ OPINION N° 100 Migration, filiation and identification by genetic testing. (October 2007)
p.000077:
p.000077: A short and critical Opinion on certain moves calling for the use of modern genetic identification methods to limit the
p.000077: immigration of family members joining their relatives. CCNE recalled a num- ber of fundamental principles on
p.000077: filiation and the inalienable right to the protection of genetic privacy.
p.000077: ➢ OPINION N° 104 The “Personal Medical Record” and computerisation of health-related data. (May 2008)
p.000077:
p.000077:
p.000077: Opinion N° 124
p.000077:
p.000077:
p.000078: 78
p.000078:
p.000078: While it recognised the medical value of being able to share information without difficulty, in par- ticular for the
p.000078: management of serious and/or chronic disease, CCNE pointed out the danger of computerised (not ‘paperless’) data
...
Health / Physically Ill
Searching for indicator ill:
(return to top)
p.000029: society step in with preventive action that could delay the onset of clinical symptoms?
p.000029: This raises a substantial issue: defining disease. Today, it is defined clinically and, despite some diagnostic
p.000029: imperfection, this is very well suited to ‘traditional’ medicine. For quite a while, we have seen prediction making
p.000029: inroads into the clinical scene. This is the case, for example, when some anomalous clinical or biological parameters,
p.000029: such as arterial hypertension or hypercholes- terolemia are seen as diseases whereas they are no more than the
p.000029: predictive constituent of dis- ease.
p.000029: Perhaps genomics, confronting us as it does rather abruptly with the concept of predisposition, contributes to a very
p.000029: reductive view of the vast stretch between genomic and clinical? Can we accept the concept that ill health begins
p.000029: with predisposition? This is the question which led Jean Dausset into creating the concept of predictive
p.000029: medicine. The possibility of a predisposition leading to a prediction, could give rise to ‘preventive’ medical
p.000029: management, which would easily enough become coercive72.
p.000029: Up to now, very high throughput DNA sequencing was most often used for clinical purposes on targeted areas of the
p.000029: genome, in particular in prenatal medicine or oncology as well as to identi- fy pathogenic agents. This use of
p.000029: targeted testing will continue to grow, but the full potential of the kind of medicine that is erroneously
p.000029: designated as ‘personalised’ and which should more properly be described as being ‘precision genomic medicine for
...
p.000060: specific to bioethical135 medical practices which are particular in that they are controlled, unlike
p.000060: ‘normal’ medical practices for which it is sufficient for people to consider themselves sick for them to be given the
p.000060: health care appropriate to their state of health136. Such practices are regulated, both as regards the request
p.000060: formulated by the person concerned and the practitioner’s response, to which
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060: 131 Article R. 1131-1 of the French Code of Public Health.
p.000060: 132 The delivery of which is one of the rights of a person in ill health: article L. 1111-2 of French Code of Public
p.000060: Health.
p.000060: 133 Article L. 1111-4 al. 1 of the French Code of Public Health: “... patients make decisions regarding their own
p.000060: health together with the member of the medical professions, taking into account the information and advice the latter
p.000060: provides.”
p.000060: 134 Articles L. 6211-1 and L. 6211-2 of the French Code of Public Health.
p.000060: 135 Which, according to the explanatory statement of the bioethics draft law, should be understood as be- ing
...
p.000064:
p.000064: A reminder of the discussion leading to rules now applicable in this respect may be useful. In 1994, the use of
p.000064: genetic testing was recognised as legitimate for medical purposes exclusively, ruling out the possibility of requests
p.000064: from insurers using them for selection and therefore to discrimination in insurability depending on personal
p.000064: biological characteristics. Bowing to this rule, the Fédération française des sociétés d’assurances (French
p.000064: federation of insurance companies) accepted a five-year moratorium in 1994. However, in a prospective study
p.000064: published by their review and authored by François Ewald and Jean-Pierre Moreau156 they put forward the theory
p.000064: that a radical change of scene had been brought about by the possibility of prediction generated by genetics since “ill
p.000064: health which used to be a fatality has become an individual future”; so that “equality in health formerly attached to
p.000064: total ignorance in the face of disease” is disrupted since it is now possible to know the likelihood of good or bad
p.000064: health, so that each person is now individually responsible for his or her own health
p.000064:
p.000064:
p.000064: 152 Article 6 of the Additional Protocol to the Convention on Genetic Testing for Health Purposes, May 7, 2008,
p.000064: referred to above.
p.000064: 153 Rapp. AN, n° 3403, May 11, 2011, 26, J. Leonetti.
...
Searching for indicator illness:
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p.000029: ers, in particular those produced by the so-called ‘omic’ techniques and the entirety of health- related data. It
p.000029: is hoped that this block of information could establish a connection between
p.000029:
p.000029: 71 Cook-Deegan R. and Dedeurwaerdere T. « Biens communs scientifiques » et recherche en sciences de la vie :
p.000029: structure, fonction et valeur de l'accès à la diversité génétique », in Revue internationale des sciences sociales ,
p.000029: 2006/2 n° 188, p. 317-338.
p.000029: 72 Such constraints are unlikely to be acceptable in a country like France, in which over 30% of its citizens smoke
p.000029: (32.4%), where one smoker out of two will die of a tobacco-related illness and where quite a num- ber of patients do
p.000029: not comply with medical prescription.
p.000029:
p.000029:
p.000029:
p.000029:
p.000029: Opinion N° 124
p.000029:
p.000029:
p.000030: 30
p.000030:
p.000030: DNA sequences (the genotype) and the phenotype, and therefore between an individual genome and the dynamics of its
p.000030: expression so as, in particular, to gain a better understanding of the transition from good health to bad,
p.000030: and so improve the medical management73 of poor health.
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
...
p.000038: performed free of charge for four of them (cystic fibrosis, Tay- Sachs disease, familial dysautonomia,
p.000038: thalassemia); it is generally encouraged for diseases whose heterozygous frequency is over 1/110 (Nieman Pick
p.000038: disease, glycogen storage diseases,
p.000038:
p.000038:
p.000038:
p.000038: Opinion N° 124
p.000038:
p.000038:
p.000039: 39
p.000039:
p.000039: etc.). In the United States, heterozygote screening is recommended for frequent conditions such as cystic fibrosis or
p.000039: spinal muscular atrophy, as well as Tay-Sachs in the Ashkenazi community.
p.000039: Preconception screening in targeted populations could well be considered progress94, particu- larly when such
p.000039: screening applies to incurable and exceptionally severe illness. And yet, this benevolence in favour of some
p.000039: people highlights a form of injustice for populations where preva- lence of a given disease is lower and does not
p.000039: therefore qualify for the free provision of screen- ing. It would seem, therefore, that the concern is more in terms
p.000039: of insurance than for ethical mo- tives. This is the reason why some geneticists suggest that such testing should be
p.000039: done not only for high risk populations, possibly with already one child affected, but for the population at large with
p.000039: an analysis of pathologies on a specific list drawn up after careful reflection integrating eth- ical principles of
p.000039: pertinence, usefulness, interpretability, reliability, etc.
...
Searching for indicator sick:
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p.000035: threat to anonymity88.
p.000035: Currently, the dispersion of data files, despite their constantly growing numbers, seems to pro- tect against this
p.000035: threat. They are, however, increasingly easy to interconnect, in particular with the help of the computerised
p.000035: technology being developed and now capable of managing massive quantities of data (‘big data’), so that genetic
p.000035: ‘correlations’ are increasingly easy to establish.
p.000035: In view of these difficulties some scientists and some legal experts believe that, rather than try- ing to prevent
p.000035: information from circulating, we should concentrate on educating DNA donors (sick or in good health)
p.000035: included or not in a cohort, who are willing to have their DNA se- quenced, and work on legislation
p.000035: protecting sequencing data from inappropriate use, as well as on the supervision of such uses.
p.000035: 2- Do the technical advances in genetics leave enough scope for freedom and/or autonomy?
p.000035:
p.000035: Back in 1995, CCNE pointed out the special role played by genetic analysis in its relationship with
p.000035: individuals and their private lives: “...a genetic test implies entry into the intimacy of an indi- vidual, of his
p.000035: body, and the significance he attaches to it in relation to his psychic identity. Fur- thermore, almost
...
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
p.000060: prenatal development. The purpose of the analysis is to “either make, confirm or refute a genetic diagnosis, or to
p.000060: search for the characteristics of one or several genes that could cause disease in a person or in potentially concerned
p.000060: members of that person’s family, or to adjust medical treat- ment to match a person’s genetic traits” 131 . The rules
p.000060: applicable are not those normally regulating the decisions that a sick person who has requested the advice of a
p.000060: physician might ordinarily be tak- ing: they are based on the full information provided by the physician132 as a result
p.000060: of a global analysis of a person’s state of health, so that an informed decision can be made, i.e. accepting or
p.000060: rejecting the physician’s proposals133. Nor are the rules those applicable to biomedical134 tests. Instead, they are
p.000060: specific to bioethical135 medical practices which are particular in that they are controlled, unlike
p.000060: ‘normal’ medical practices for which it is sufficient for people to consider themselves sick for them to be given the
p.000060: health care appropriate to their state of health136. Such practices are regulated, both as regards the request
p.000060: formulated by the person concerned and the practitioner’s response, to which
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060:
p.000060: 131 Article R. 1131-1 of the French Code of Public Health.
p.000060: 132 The delivery of which is one of the rights of a person in ill health: article L. 1111-2 of French Code of Public
p.000060: Health.
...
p.000060: provides.”
p.000060: 134 Articles L. 6211-1 and L. 6211-2 of the French Code of Public Health.
p.000060: 135 Which, according to the explanatory statement of the bioethics draft law, should be understood as be- ing
p.000060: “...ethical and societal issues related to medical innovation involving manipulation of living material”: Draft law on
p.000060: bioethics, prec., 4.
p.000060: 136 As demonstrated by Canguilhem, a physician responds to a request, that of people consulting him
p.000060: because they feel unwell and call on his competent care; therefore, says Canguilhem, “it is first and
p.000060: foremost because people feel sick that medicine exists”, to which he adds: “it is always by relevance to the sick
p.000060: person, through clinical practice, that there is justification for the qualifier “pathological”.
p.000060: G. Canguilhem, Le normal et le pathologique, PUF, coll. Galien, 1966, 156.
p.000060:
p.000060:
p.000060:
p.000060: Opinion N° 124
p.000060:
p.000060:
p.000061: 61
p.000061:
p.000061: should be added that the law specifies the qualifications and training the physician must have, while the institutions
p.000061: carrying out the tests must be specifically approved for the purpose137.
p.000061: As a result, specific rules are prescribed for genetic testing138, as is also the case for other practices, because in
p.000061: this genetic context, we are dealing with medicine for the identification of a disorder ra- ther than medicine for a
...
Health / Pregnant
Searching for indicator pregnant:
(return to top)
p.000067: womb an embryo which is not just free of the particularly severe genetic disorder in question but also has an immune
p.000067: system compatible with an affected older sibling so that the latter can benefit from placenta blood or bone marrow
p.000067: haema- topoietic stem cell transplant.
p.000067: The legislators’ decision is unambiguous: there is no intention of analysing the full embryonic or foe- tal genome
p.000067: to detect all anomalies and even less any predisposition. Legislators did not endorse CCNE’s suggestion,
p.000067: set out in Opinion N° 107, that in the case of a preimplantation diagnosis of the embryo in vitro, a karyotyping
p.000067: procedure would be advisable in order to detect possible trisomies, instead of waiting to then do a prenatal diagnosis
p.000067: of the pregnant woman.
p.000067:
p.000067:
p.000067:
p.000067:
p.000067: 162 CCNE, Opinion n° 83, Generalised prenatal screening for cystic fibrosis, December 18, 2003.
p.000067: 163 Article L. 2131-4 of the Code of Public Health.
p.000067:
p.000067:
p.000067:
p.000067: Opinion N° 124
p.000067:
p.000067:
p.000068: 68
p.000068:
p.000068: In conclusion, it can be noted that, according to a study made by the Council of Europe, French law is evolving in
p.000068: harmony with a general trend of authorising prenatal diagnosis for medical purposes, with certain variations
p.000068: in national legislation from one country to another164.
p.000068: 3- Protection of personal data
p.000068:
...
Social / Access to Social Goods
Searching for indicator orientation:
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p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
p.000053: to do so, even though, and possibly even more so, if there is a form of social pressure, or even a fashionable trend
...
Searching for indicator access:
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p.000012: genetic composition (genotype). A phenotype is related to morphological or physiological, or even be- havioural
p.000012: traits. The relationship between phenotype and genotype is not unequivocal since there is no total phenotypical
p.000012: identity between two identical (monozygotic) twins.
p.000012: 16 Stricto sensu the expression ‘genetic diagnosis’ should only be used in the case of monogenic diseases so that a
p.000012: disease can be characterised by the identification of a mutation.
p.000012:
p.000012:
p.000012:
p.000012: Opinion N° 124
p.000012:
p.000012:
p.000013: 13
p.000013:
p.000013: tions17 or their correlation to different forms of the disease (‘genotype/phenotype’ relationship), etc.
p.000013: For certain genetic disorders and diseases, genetic analysis gives access to effective therapy or preventive treatment.
p.000013: It is therefore medically appropriate. But this is not always the case and we may well wonder whether there is any
p.000013: point in knowing about a genetic prediction or risk when there is no possible therapy.
p.000013: It is important to remember that prediction, particularly in medical matters, designates “the an- ticipation of events
p.000013: which are only probable and recognised as such” so that it not by any means stating that something is actually going to
p.000013: happen18,19. That being so, should we not be speaking about probabilistic medicine to which a preventive purpose is
p.000013: attached?
p.000013: 2- Biological complexity and genetic determinism
p.000013:
p.000013: At a time when biological development was beginning to move away from molecular reduction- ism in the direction of
p.000013: biological complexity, CCNE spoke a word of warning: “The myth of the gene as the stuff of which life itself is
p.000013: programmed, is such that of it is born the illusion that per- fect knowledge of the genome of an individual will lead
p.000013: to an understanding of the reality and fate of that individual. Metaphors such as the book of life which would give
p.000013: access to the essen- tial human being if only one could decipher the genetic alphabet and syntax, refer to that notion.
p.000013: Such a concept is scientifically unacceptable and ethically dangerous20. And yet, technical wiz- ardry in the field
p.000013: of genetic tests, generating an illusion of simplicity, using the language of codes and predisposition, seems to drive
p.000013: us from reductionism21 to a certain degree of determinism, as though our genes were ‘all-powerful’ and cut us off from
p.000013: the relationship we maintain with our
p.000013:
p.000013:
p.000013: 17 The penetrance of a genetic disease is the frequency with which the carrier of a gene mutation express- es the
p.000013: disease. It is due to a combination of genetic and environmental factors.
...
p.000019: therefore the voluntary participation of informed individuals consenting to participate in multidisciplinary
p.000019: international studies39.
p.000019: c- The challenge of data management.
p.000019:
p.000019: The acquisition of sequences corresponding to full genomes generate enormous quantities of da- ta whose
p.000019: interpretation and automatic computerised processing cannot be managed by tradi- tional and individual
p.000019: methods. The results obtained are now numbered in terabytes so that un- precedented data processing power is required
p.000019: as is the design of appropriate software.
p.000019: The question of what should be kept and for how long is becoming a crucial problem and this is also true of links to
p.000019: personal and phenotypic data. We are entering an era of databases40, where the internationalisation of storage and
p.000019: access adds to the risk of privacy erosion and to the diffi-
p.000019:
p.000019:
p.000019:
p.000019: 36 This is called redundancy or depth or coverage.
p.000019: 37 For example the 1000 Genomes Project and the Exome Variant Server.
p.000019: 38 To keep it simple linguistically, monogenic disease is the expression used to qualify a genetic condition the cause
p.000019: of which depends on the existence of a single gene mutation. Frequently, expressivity and pene- trance of the disease
p.000019: depend on other genetic factors or other factors besides this simple mutation.
p.000019: 39 This participation is often described in research as a partnership.
p.000019: 40 dbGaP, The database of Genotypes and Phenotypes (dbGaP) was developed by the NIH (USA) to archive and distribute
p.000019: the results genotype-phenotype correlation financed by NIH. The database is managed by NIH; the 1000
p.000019: Genomes Project has a database open to public access.
p.000019: (http://www.1000genomes.org/data- #DataAccess)
p.000019:
p.000019:
p.000019:
p.000019: Opinion N° 124
p.000019:
p.000019:
p.000020: 20
p.000020:
p.000020: culty of data protection41. The risk seems even greater in the very buoyant field of data sharing over the internet
p.000020: and social networks. Protecting personal and public data versus restricted ac- cess to databases which are no longer
p.000020: confined to national frontiers is currently one of the main areas of ethical issues to be considered42, with certain
...
p.000020: sequencing. One of the characteristics of this trend is that the main operators are big concerns (Google, Amazon,
p.000020: Facebook and Apple, for example) who have no traditional history of working with physicians and biologists.
p.000020: Another characteristic is that the resources required to process and store such data is such that it pre- selects a
p.000020: small number of corporations who are equipped for the task, thus creating both a con- centration of power nearing
p.000020: seemingly hegemonic proportions and a form of appropriation of this data which is in fact in contradiction with the
p.000020: basis and the justification for this analysis of massive quantities of health related data, i.e. the unrestricted
p.000020: sharing of information and its free access. This is very central to CCNE’s concerns and it will be the subject of
p.000020: further independent study by the Committee on the ethical issues arising out of using such data, beyond the genetic
p.000020: issues which are the subject of this Opinion.
p.000020: 6- Fields of application
p.000020:
p.000020: Genetic studies are generally undertaken for medical purposes and, less frequently, outside the scope of medical use
p.000020: for forensic or criminological pursuits (DNA forensics) or, more recently, as part of what goes under the name of
p.000020: ‘recreational genetics’. In a medical context, genetic analy- sis seeks to identify the cause of a disease or the
p.000020: genetic profile to which it is attached, the causal link not always being easy to find. In other contexts, it is the
...
p.000022: risk in absolute terms is 1.2 to 1.4% instead of the usual 1% — is that really what you can call an essential item of
p.000022: information which is likely to make we want to adopt a healthier diet?” (B Jordan, MS 2010). This market is evaluated
p.000022: as worth $250 million in 2018.
p.000022: 48 23andMe have recently sold their genetic database (Parkinson’s disease) to Genentech for $60 million.
p.000022:
p.000022:
p.000022:
p.000022: Opinion N° 124
p.000022:
p.000022:
p.000023: 23
p.000023:
p.000023: b- Non medical use
p.000023:
p.000023: In parallel with highly regulated genetic studies when they are part of a medical activity, there is open access
p.000023: genetic testing (DTC, direct to consumer) which is flourishing alongside a number of non medical applications in a
p.000023: totally unregulated sector, obeying the laws of ‘electronic com- merce’, making use of new information
p.000023: technology via the Internet49. This trend, particularly vigorous in the United States, follows the current
p.000023: thinking regarding the individual empower- ment without interference from the medical professions and without
p.000023: community support. The main motivation in the United States for those paying for such testing is to know
p.000023: more about their ancestry “Bring your ancestry to life” says the 23andMe website, and trace your “lineage” through
p.000023: genetic links. In the genealogical indication — unlike medical prediction — results are robust, but they use other
...
p.000026: rights which thereafter became en- shrined in Union law “in accordance with the general principles common to the
p.000026: laws of the Mem- ber States”. Under the heading of “Protection of personal data, Article 8 states that “1. Everyone
p.000026: has the right to the protection of personal data concerning him or her. 2. Such data must be pro- cessed fairly for
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
...
p.000027: people’s DNA sequence throughout their whole life may give them the impression that such a sequence represents a firm
p.000027: rock foundation for their personality, even though it is equally true that human beings cannot be reduced to their sole
p.000027: biology and even less to their ge- netic makeup. And yet, as part of a person’s self, sharing their genetic portion
p.000027: can be, and is in fact claimed as a right, at a time when social networks on the Internet are significantly modifying
p.000027: the boundaries of ‘privacy’ 67, so that what certain currents of opinion describe as ‘recreational genomics’,
p.000027: essentially representing access to the discovery of one’s origins, family ties and gene- alogy, is publicly available
p.000027: on forums; in this way, the notion of ‘family reunion’ seems close, in this respect, to that of ‘friend’ on certain
p.000027: social networks.
p.000027: Nevertheless, the rigorous parting of ways between recreational and medical aspects is not so easy to order. There is
p.000027: a degree of ambivalence insofar as recreational activities may be very rapidly challenged by more or less
p.000027: significant genetic discoveries, with varying measures of medical predictive potential.
p.000027: 2- Increasing merchandisation of technology
p.000027:
...
p.000031: genetic sciences.
p.000031: 75 O’Rawe JA, Ferson S, Lyon GJ. Accounting for uncertainty in DNA sequencing data. Trends in
p.000031: Genetics. 2015; 31: 61-66.
p.000031: 76 Felipe Aguirre F., Sallak M., Schön W. Incertitudes aléatoires et épistémiques, comment les distinguer et les
p.000031: manipuler dans les études de fiabilité ? 10ème Congrès International Pluridisciplinaire en Qualité et Sûreté de
p.000031: Fonctionnement: QUALITA 2013
p.000031:
p.000031:
p.000031:
p.000031: Opinion N° 124
p.000031:
p.000031:
p.000032: 32
p.000032:
p.000032: meaning that the knowledge available is insufficient to dispel it; or that they can or must have access to a
p.000032: significant numerical representation of that uncertainty77.
p.000032: Two attitudes in the presence of uncertainty have been defined. On the one hand, consent to transcend
p.000032: uncertainty, epistemic uncertainty, explaining uncertainty as a temporary incompe- tence, as a temporary stage
p.000032: of knowledge. On the other hand, an attitude tolerating uncertainty, ontological uncertainty, explaining definitive
p.000032: uncertainty by the irreducible unpredictability of reality78.
p.000032: To try and reconcile mathematical and sociological theory, uncertainty can be made available in various versions ranked
p.000032: according to its plausibility (radical uncertainty, conflictual uncertainty, consensual uncertainty), its
p.000032: reductiveness (possibility of reducing uncertainty with the aid of targeted research, its observability
...
p.000037: the risk it entails of sacralising the gene.”
p.000037: With the possibility of everyone having their genome sequenced at birth appears the supple- mentary risk
p.000037: that the sequence could be analysed again and again throughout life, with as a con- sequence a constant flow of
p.000037: new information, potentially undesirable, being supplied or even foisted onto the person concerned.
p.000037: 4- Preconception screening, between individual liberty and social constraint
p.000037:
p.000037: Preconception screening opens the way for couples to access data on hereditary pathologies be- fore they conceive.
p.000037: In this country, preconception screening currently concerns couples pre- senting the risk of a monogenic
p.000037: hereditary disease. It takes place as part of a genetic counselling
p.000037:
p.000037:
p.000037: 92 Issues related to prenatal diagnosis and screening were examined in detail in two recent Opinions pub- lished by
p.000037: CCNE, N° 107 (2009) “On Ethical Issues in Connection with Antenatal Diagnosis: Prenatal Diagno- sis (PND) and
p.000037: Preimplantation Genetic Diagnosis (PGD)”, and N° 120 (2013) on “Ethical Issues in Connection with the Development of
p.000037: Foetal Genetic Testing on Maternal Blood”, to which the reader may wish to refer.
p.000037: 93 A heterozygous individual carries two different copies of a given gene for a particular trait, inherited from each
...
p.000038: This identification of couples at risk of giving birth to a child affected by a serious genetic
p.000038: disease, although it is already in use in cer- tain countries for certain diseases, raises extensive and
p.000038: delicate ethical issues, in particular because it amounts to establishing a kind of “genetic risk iden- tity
p.000038: card” with the dual danger of interference into plans for union between people who intend to have children
p.000038: and of classifying or categorising such peo-
p.000038: Generalised preconception diagnosis and direct access testing (DAT)
p.000038: •‘Amby Screen’ screens for 75 paediatric re- cessive or x-linked diseases.
p.000038: •‘23andMe’ provide a more extended test schedule, including, besides the genotyping of mutations causing
p.000038: monogenic diseases, testing for polymorphisms associated with ‘multifactorial’ diseases as well as a phar-
p.000038: macogenetic profile.
p.000038: •‘GenePeeks’ whose slogan claims that pro- tecting our children is in our DNA, has on of- fer a DNA analysis
p.000038: for prospective mothers so as to find a genetically compatible gam- ete (sperm) donor for them thus preventing
p.000038: their future child from being affected by one of the serious genetic conditions on a list drawn up by GenePeeks
p.000038: themselves.
p.000038: Why, some people ask, reject what technolo-
p.000038: gy can do to ‘improve’ our condition?
p.000038: ple so that they could be subjected to discrimination or stigmatisation. This situation would raise ethical issues
p.000038: which are included in the general context of those raised by access to complete ge- nome sequencing, at whatever age.”
p.000038: This is already being done in some countries: the Genzyme Genetics company is providing a test for 98 of the most
p.000038: frequent mutations of the CFTR gene, some of which predispose for cystic fi- brosis (one at-risk couple in 1,400).
p.000038: This preconception screening procedure for heterozygous people has been systematic for a long time in populations where
p.000038: there is a marked prevalence for certain inherited conditions. In 2004, Saudi Arabia made the test mandatory to
p.000038: detect the transmission of sickle-cell anaemia and thalassemia. In Cyprus and Sardinia, preconception
p.000038: screening for β thalassemia has had the effect of dramatically reducing the number of cases. In Israel, systematic
...
p.000042: on various demands ranging from pure cognitive research to short term clinical exploitation. A non exhaustive list
p.000042: could include:
p.000042: • The 100,000 genomes project in the United Kingdom (http://www.genomicsengland.co.uk/the-100000-genomes-project/).
p.000042: • The FarGen project aiming to sequence full genomes of the whole population of the Faroe Islands (50,000 people)
p.000042: (http://www.fargen.fo/en).
p.000042: • The recently launched “Precision Medicine” project, initiated by President Barak Obama with the intention of
p.000042: constituting a million person cohort contributing genetic and medi- cal genetic data
p.000042: (http://www.nih.gov/precisionmedicine/).
p.000042: • The “personal genome” project (PGP) which created as early as 2005 a free-access scien- tific resource collecting
p.000042: genetic, environmental and health data supplied by a global net- work of volunteers (http://www.personalgenomes.org).
p.000042: The terms of reference of these studies raise questions in our minds regarding the implicit choices from
p.000042: which they originate. For example, one might wonder about the motive for the
p.000042:
p.000042:
p.000042: 101 Gallezot Gabriel, « Exploration informationnelle et construction de connaissances en génomique », in
p.000042: Les Cahiers du numérique, 2002/3 Vol. 3, p. 121-136.
p.000042:
p.000042:
p.000042:
p.000042: Opinion N° 124
p.000042:
p.000042:
p.000043: 43
p.000043:
...
p.000045: Francis Collins, Director, US National Institutes of Health, remarked that the situation created by the DNA
p.000045: sequencing of the HeLa cells demonstrated that ethical policy was several years or maybe several decades
p.000045: lag- ging behind science and that it was time to update it.
p.000045: *Hudson KL., Collins FS. (2013) Biospecimen policy: Family matters. Nature; 500: 141-142
p.000045: link with the phenotype is unknown. Here again, it is the permanency of the media used to store the genetic
p.000045: information in a database and the evolutionary nature of the knowledge to which it gives access which raise issues.
p.000045: Can the burden of such information be imposed on a future adult who might have preferred to claim the right
p.000045: not to know?
p.000045: 5- The right to know, the right not to know
p.000045:
p.000045: The generalisation of genetic data raises the issues of wanting to know, needing to know, or even having
p.000045: the right to know, but also what is left of the right not to know106,107.
p.000045:
p.000045: 106 There are cases where prevention and treatment overlap: up to quite recently, the issues arising out of the
p.000045: BRCA1/2 tests were purely preventive, but lately, with the advent of specific treatment for cancers
p.000045: appearing in a BRCA-/- context (PARP inhibitors), there are also therapeutic issues. When someone tests positive for a
p.000045: disease, surely the right not to know is questionable?
...
p.000052: the information.
p.000052: Since personal medical data is already protected, there is no overriding reason why human ge- nome sequencing should be
p.000052: made an exception to the general principles applicable to medical care as defined in articles 6 and 7 of the law dated
p.000052: January 6, 1978:
p.000052: • Purpose (legitimate and specific);
p.000052: • Proportionality (recording only pertinent and necessary information);
p.000052: • Pertinence of data (appropriate, pertinent and not superfluous in the light of stated objec- tives);
p.000052: • Limited duration (data stored in keeping with stated treatment objectives);
p.000052: • Safety and confidentiality (authorised staff, steps taken to safeguard data, preventing unau- thorised access);
p.000052: • Transparency (information provided to those concerned);
p.000052: • Respect for personal rights (informing those concerned and the right to object; rights of ac- cess and correction
p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
...
p.000053:
p.000053:
p.000053:
p.000053: Opinion N° 124
p.000053:
p.000053:
p.000054: 54
p.000054:
p.000054: al data, defining a chain of accountability starting with data collecting organisms through to final users, attaching
p.000054: metadata to personal data indicating the purposes for which the data was col- lected and thereby, defining restrictions
p.000054: on its use121, etc. 122
p.000054: 3- The public health/privacy relationship
p.000054:
p.000054: Ethics requires us to raise the issue of the impact that sequencing technology has already had on individuals and
p.000054: society. This is all the more important if it becomes possible to sequence not just a genome, but also to have
p.000054: access to all the parameters defining an individual’s phenotype, thus anticipating and influencing future developments.
p.000054: One of the main and specific characteristics of genetic information is that such data is not solely ‘personal’ and
p.000054: private in the usual meaning of the words. It is personal of course, but it also identifies and is
p.000054: shared by a kinship group123. How, therefore, can procedures designed for an individual be used to manage what
p.000054: relates to several people?
p.000054: There is a need to distinguish between the case where a listing is of a purely private nature and could lead to
p.000054: commercial uses and the case where it responds to an a priori legitimate public health objective for the
p.000054: benefit of the community.
...
p.000054: in the French automated national genetic prints DNA database (FNAEG - Fichier National Automati- sé des Empreintes
p.000054: Génétiques).
p.000054:
p.000054:
p.000054:
p.000054:
p.000054: Opinion N° 124
p.000054:
p.000054:
p.000055: 55
p.000055:
p.000055: al’s privacy and the furtherance of public health must always be drawn up so as to define clearly the limitations and
p.000055: privileges of personal capacity rights.
p.000055: 4- Modifications to information and consent procedures
p.000055:
p.000055: Consent is obviously required for the storage of, and access to, genetic data. It cannot, however, have the same
p.000055: impact as in cases where data is collected for a specific purpose since it is as- sumed that
p.000055: interpretation of the genome is work in progress and could reveal, at a later time, in- formation that the researchers
p.000055: had not expected at the time the data was collected.
p.000055: The requirement for free and informed consent — to use the traditional wording which is some- times criticised because
p.000055: it would be more in keeping with the principle of autonomy to use the word ‘choice’ — is the cornerstone of medical and
p.000055: bioethical law. The arrival on the scene of full genome analysis, its ties with research and the evolutionary nature
p.000055: of the knowledge to which it provides access, calls into question the effectiveness, not to say the very existence, of
p.000055: the infor- mation/consent relationship.
p.000055: To which must be added that the existence of unexpected data could render the ‘right not to know’
p.000055: meaningless although good practices seek to perpetuate it, in particular for severe late- onset pathologies.
p.000055: Getting one’s DNA sequenced may be tantamount to imposing the unex- pected on others, blood relatives in
p.000055: particular. The system needs to be entirely reviewed, both to adapt it to the probabilistic nature of some of the
p.000055: information as well as to take into account the fact that all discoveries and their interpretation cannot be
p.000055: anticipated at the time of testing.
p.000055: Those whose task it is to legislate on public health matters should address their thoughts to how individual access
p.000055: to quality medical genetic information should be organised, to adapting free and informed consent procedures
p.000055: to the possibility of incidental discoveries, and to diagnostic developments in the prenatal and perinatal periods.
p.000055: The possibilities for prevention, diagnosis and treatment flowing from access to the human genome deserve to
p.000055: be implemented without obstruction as long as they are based on scientifically validated techniques and are able to
p.000055: dis- tinguish between that which is within the purview of genetics, of heredity in the broadest mean- ing of the word,
p.000055: and that which falls within the scope of the environment or of individual factors. It will be up to lawmakers, working
p.000055: in close cooperation with all concerned, physicians and re- searchers obviously, but also more generally with citizens
p.000055: themselves, with all the stakeholders, to develop safeguards and control procedures to make them compatible with the
p.000055: founding prin- ciples of our country’s medical practices in genetics. Clearly, such a review will not yield results
p.000055: before quite some time124. There is, however, an essential need for it to be open and accessible
p.000055:
p.000055:
...
p.000056: added to at any point in the life of individuals concerned, as a result of which they may be confronted with critical
p.000056: problems in their relations with the public (health) institution or the private company (commercial) storing the data
p.000056: or the community (political) wanting to use the date. This dependence on time and the multiplicity of players is
p.000056: representative of the differ- ence between genetic information and other medical data. The latter is only significant
p.000056: at the time it is imparted and within the confines of the doctor/patient dialogue.
p.000056: In view of the fallacious nature of the ‘anonymiszation’ of personal and genomic data in open- access databanks, can
p.000056: the community guarantee that the DNA I am trusting it with will stay uni- dentifiable? At the other end of the scale,
p.000056: should not individuals consent to take the risk that their private data does not remain anonymous, for example in the
p.000056: context of the analysis of a co- hort’s data, if out of the genome sequencing of a very broad selection of the
p.000056: population an item of knowledge emerged which solved a public health problem or identified a risk factor,
p.000056: from which they themselves might also derive benefit? But, in such cases, is ‘sharing’ the right word to describe the
p.000056: process? Is this not more in the nature of a gift of information to those for whom it might be beneficial?
p.000056: We are therefore entering the subject of respect for privacy from the point of view of self-
p.000056: determination rather than of ownership. The principle of non-appropriation of genetic data supposes the
p.000056: existence of a free access policy coupled with pooling such benefits as might be
p.000056:
p.000056: Opinion N° 124
p.000056:
p.000056:
p.000057: 57
p.000057:
p.000057: forthcoming (intellectually, medically and financially), and is akin to the notion of public good. Free access, and
p.000057: therefore the pooling, of data are now decisive constituents of scientific pro- gress, leading to some new
p.000057: practices in scientific research, in particular outside the sphere of ac- ademic research. The concept of
p.000057: ‘publicness’125 was coined to bear witness to the collective val- ue of self-revelation: creating a climate of
p.000057: trust and common knowledge so as to improve the chances for individual emancipation. The concept is therefore
p.000057: ‘targeted’, it is a ‘service’ to the public, it is not identical to generalised transparency; it seeks to serve a more
p.000057: inclusive defini- tion of the common good. Two points, however, need to be kept in mind.
p.000057: While sharing may be considered as one way of conducting personal privacy, meaning that shar- ing is a free choice and
...
p.000058: limited attention granted to prevention in public health policies? 129
p.000058: Investigating the actual portent of defects in our genes and DNA sequences and how they could affect life expectancy is
p.000058: a legitimate enterprise, as long as we remember that life expectancy de- pends primarily on social, non-genetic
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
...
p.000070: protection of the data provided by the US Department of Commerce “Safe Harbour” principles. The decision considered
p.000070: that the United States, third country, provided an adequate level of protection for Euro- pean citizens’ data under the
p.000070: Safe Harbour principles and therefore authorised transfers from mem- ber states to companies established in the United
p.000070: States who are committed to respecting the ‘Safe Harbour’ principles175.
p.000070: But in 2013, Edward Snowden’s revelations revealed the existence of large scale data collection pro- grammes from
p.000070: digital data companies such as Google, Facebook, Amazon, Twitter, Apple who were granting privileged access of the data
p.000070: they were storing to American intelligence agencies. An Aus-
p.000070:
p.000070:
p.000070: 173 Opinion 3/2015, Europe’s big opportunity, EDPS Recommendations on the EU’s options for data protec- tion reform,
p.000070: 28 July 2015, 13,
p.000070: https://secure.edps.europa.eu/EDPSWEB/webdav/site/mySite/shared/Documents/Consultation/Opinio
p.000070: ns/2015/15-07-27_GDPR_Recommendations_EN.pdf
p.000070: 174 CJUE C-362 14 Schrems v Data Protection Commissioner 6
p.000070: Oct. 2015, http://curia.europa.eu/juris/liste.jsf?num=C-362/14 et Conclusions Y. Bot,
p.000070: 23 Sept. 2015, http://curia.europa.eu/juris/document/document.jsf?text=&docid=168421&pageIndex=0&doclang=FR&
...
p.000071: where it is processed. Considering that his data was not adequately protected in the United States, he filed a
p.000071: complaint with the Irish Data Protection Commissioner who rejected it on the grounds that the Commission had
p.000071: found, in decision n° 2000/520/EC, that the United States provided adequate protection to transferred personal
p.000071: data. Max Schrems then filed an application for judicial review in the Irish High Court which then referred
p.000071: the case to the CJEU to judge whether the Commissioner was or was not bound by decision 2000/520.
p.000071: The Court invalidated the decision on the grounds that American companies receiving this data could not deny access to
p.000071: the US authorities by reason of national security requirements, public interest and law enforcement so that they were
p.000071: obliged to bypass the ‘safe harbour’ rules of protection and give access to personal data. In consequence, regulations
p.000071: allowing the US authorities generalised access to electronic communications must be viewed as encroaching on the
p.000071: essential content of the funda- mental right to protection of privacy. The Court was also of the opinion that the
p.000071: European Commis- sion approval of the decision in 2000 did not prevent the protection authority of a member
p.000071: State from examining an individual’s request with regard to the protection of personal rights and liberties which had
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
...
p.000072: person concerned is required180, be it applicable to samples or genetic data and the research must respond to a
p.000072: specific medical or scientific objective.
p.000072: In a global genetic research context, attention must be paid to the development of pooled medical and genetic data,
p.000072: a recent example of which is the Global Alliance181 for Genomics and Health - GA4GH: a non-profit
p.000072: association gathering together health care providers, research institutions, pa- tients’ rights advocacy
p.000072: organisations and companies specialising in life sciences and information technology. Its main objective is
p.000072: to accelerate medical progress by encouraging generalised access to genomic and clinical data. In order to achieve
p.000072: these aims, it insists on the need to define a com- mon framework of harmonised technical, operational and ethical
p.000072: international standards to enable safe and responsible inter-operability of genomic research platforms. The “Framework
p.000072: for Responsi- ble Sharing of Genomic and Health-Related Data” 182 highlights the fundamental principles that must be
p.000072: respected, in particular guarantees to respect privacy, data protection and confidentiality. Alt- hough it
p.000072: directs attention to the need to “Comply with applicable privacy and data protection regula- tions at every stage of
...
p.000073:
p.000073:
p.000074: 74
p.000074:
p.000074: B- CCNE Opinions pertinent to genetic testing and its applications
p.000074:
p.000074: Genetics, as it applies to humans, for which recent progress raises major ethical issues, has been the subject of
p.000074: CCNE’s attention on frequent occasions and on a number of subjects: genetic fingerprint- ing, genetic testing for
p.000074: medical purposes for adults or tests for prenatal, neonatal or preimplantation diagnosis.
p.000074: Twenty-two Opinions were written to address various scientific and societal issues and the challeng- es they raised.
p.000074: They can grouped into several categories:
p.000074: - The level of certainty or uncertainty delivered by genetic science? Within what bounda- ries do sequencing
p.000074: techniques give access to scientific knowledge,... And to clinical gain? What predictive and preventive
p.000074: medicine can be defined in consequence ?
p.000074: - The dangers of commoditising genetic data
p.000074:
p.000074: - The rights and duties connected to genetic information
p.000074:
p.000074: - The protection of genetic data and of biometric data banks
p.000074:
p.000074: - Reflection on filiation (origins, anonymity and filiation confidentiality) now that genetic traceability is a
p.000074: reality
p.000074: - Birth as a medically assisted event: the role of predictive medicine in life choices.
p.000074:
p.000074: LIST OF OPINIONS
p.000074:
p.000074: ➢ OPINION N° 5 Opinion on problems raised by prenatal and perinatal diagnosis. Report. (May 1985)
...
p.000076: donations. Should the wording ‘biobanks’ or ‘biolibraries’ be used? CCNE recalled that conservation activity was
p.000076: not tantamount to acquisition or appropriation of the ele- ments collected and the resulting information data. It
p.000076: emphasised that the value of a collection is far greater than the sum of each of its components and that there was a
p.000076: need to reflect on the notion of solidarity and on the accountability of the national community in a situation where
p.000076: large banks or networks were set up on a population-wide scale. CCNE is purposely using in this con- text the
p.000076: wording “sharing the advantages or the benefit” rather than “sharing the profits”. It called for regulated
p.000076: transparency.
p.000076: ➢ OPINION N° 90 Access to origins, anonymity and confidentiality of filiation. (November 2005)
p.000076:
p.000076:
p.000076:
p.000076:
p.000076:
p.000076: Opinion N° 124
p.000076:
p.000076:
p.000077: 77
p.000077:
p.000077: The Opinion considered filiation as related to procreation in an era of ‘biological traceability’ and the risk of
p.000077: reducing human beings to the manner in which they were conceived.
p.000077: ➢ OPINION N° 95 Ethical issues raised by prediction based on detection of early behavioural disor- ders in children.
p.000077: (January 2007)
...
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p.000079:
p.000079:
p.000079:
p.000079: Opinion N° 124
p.000079:
p.000079:
p.000080: 80
p.000080:
p.000080: C- The international dimension
p.000080:
p.000080: In his 2015 State of the Union Address, the President of the United States confirmed his support for American science
p.000080: and research, in particular for ‘precision medicine’: “Tonight, I’m launching a new precision medicine initiative to
p.000080: bring us closer to curing diseases like cancer and diabetes—and to give all of us access to the
p.000080: personalized information we need to keep ourselves and our families healthier.” 185 This promising systemic
p.000080: medicine is strongly supported by American public opinion. The precision medicine concept put forward by President
p.000080: Obama is similar to ‘4P’ medicine: predic- tive, personalised, pre-emptive/preventive and participative186. It is a
p.000080: step forward from a purely ge- netic contribution, albeit a foundational one, to medical science. This was
p.000080: expressed in October 2012, by the American Presidential Commission for the Study of Bioethical Issues
p.000080: reporting on “...whole genome sequence data” and their “enormous promise to advance clinical care and general health.”
...
p.000080: described as inescapable — of human genetics now that very high throughput DNA sequencing is upon us. Neither a
p.000080: complete list of such studies nor an exhaustive analysis of them has a place in this document. Closer to us are the
p.000080: six reports written by the British Human Genetics Commission188, the Nuffield Council on Bioethics report published in
p.000080: 2010 on medical profiling189, or the Opinion by the Deutscher Ethikrat on the future of genetic diagnosis, in which
p.000080: the German Committee under-
p.000080:
p.000080:
p.000080: 185 “Tonight, I’m launching a new precision medicine initiative to bring us closer to curing diseases like can- cer
p.000080: and diabetes—and to give all of us access to the personalized information we need to keep ourselves and our families
p.000080: healthier.”
p.000080: 186 Elias Zerhouni. Les grandes tendances de l’innovation médicale au XXIème siècle. Inaugural lesson at the Collège
p.000080: de France. 18 May 2011
p.000080: 187 Presidential Commission for the Study of Bioethical Issues, Washington, D.C. Privacy and Progress in
p.000080: Whole Genome Sequencing. October 2012 (http://www.bioethics.gov).
p.000080: 188 The Human Genetics Commission’s final report », April 2012 :
p.000080: - Nothing to Hide, Nothing to Fear? Balancing Individual Rights and the Public Interest in the Governance and Use
p.000080: of the National DNA Database (November 2009)
p.000080: - A Common Framework of Principles for Direct-to-Consumer Genetic Testing Services (August 2010)
...
p.000080: on Bioethics, October 2010.
p.000080:
p.000080:
p.000080:
p.000080: Opinion N° 124
p.000080:
p.000080:
p.000081: 81
p.000081:
p.000081: lines the need to refrain from reducing the definition of ‘quality of life’ to a collection of medical or genetic
p.000081: data190.
p.000081:
p.000081: In view of certain opinions reflecting a degree of fascination for technical and scientific
p.000081: advances in modern human genomics (see one example in the box on this page191) there are
p.000081: recurrent issues concerning the integration of global genome sequencing into clinical medicine as
p.000081: well as on the conservation of access to, and the use made of, sequencing data for research purposes. With
p.000081: the ambition of making science and health policies
p.000081:
p.000081: Increasing options, informing choice: A report on precon- ception genetic testing and screening
p.000081: The Human Genetics Commission – April 2011
p.000081: Having considered the issues associated with preconception genetic testing, in our view, there are no specific ethical,
p.000081: le- gal or social principles that would make preconception ge- netic testing within the framework of a population
p.000081: screen- ing programme unacceptable. Indeed, there are good rea- sons why earlier testing is favoured over later
p.000081: testing, as it facilitates wider patient choice and improved access
p.000081: to information supporting reproductive decision-making.
p.000081: sufficiently flexible and astute for them not to inhibit the capacity for adapting to an evolving
p.000081: technology and social standards for privacy, a number of ethics committees, in particular in the English
p.000081: speaking world, are seeking to draft recommendations with the aim of providing a framework and a set of good practices
p.000081: and thereby the means with which to manage science and technology as they apply to health policies, both public and
p.000081: individual. A remaining doubt, however, is whether such ambitions are altogether realistic.
...
p.000081: purpose is to arrive at sequencing data on genomic,
p.000081:
p.000081: 190 Die Zukunft der genetischen Diagnostik – von der Forschung in die klinische Anwendung. Deutscher
p.000081: Ethikrat, 2013.
p.000081: 191 "Increasing options, informing choice: A report on preconception genetic testing and screening": Having considered
p.000081: the issues associated with preconception genetic testing, in our view, there are no specific ethical, legal or social
p.000081: principles that would make preconception genetic testing within the framework of a popula- tion screening program
p.000081: unacceptable. Indeed, there are good reasons why earlier testing is favored over later testing, as it facilitates wider
p.000081: patient choice and improved access to information supporting reproductive de- cision-making.
p.000081:
p.000081:
p.000081:
p.000081: Opinion N° 124
p.000081:
p.000081:
p.000082: 82
p.000082:
p.000082: environmental and human traits, or the “Global Alliance for Genomic and Health” whose aim is,
p.000082: rather than generating sequences, to define the regulation and safe pooling of data at a global level.
p.000082:
p.000082: These scientific resources emanate from data supplied by volunteers who authorised the sequencing of their genomes and
p.000082: who are informed of the ethical, legal and technical aspects of the research in which they accepted to participate.
p.000082: The “Global Alliance for Genomics and Health” Working Group on Regulation and Ethics (chaired by Bartha Knoppers,
p.000082: McGill University, Montreal, Canada) has set itself the objective of elaborating an international Code of Conduct for
p.000082: the pooling of genomic and clinical data. The code is intended to define a set of ethical principles to research and
p.000082: share genomic and clinical data with special empha- sis on key issues such as free and informed consent,
p.000082: confidentiality, feedback to patients and partici- pants in research, data conservation and access. It defines
p.000082: protection against those who seek to make improper use of this data which was contributed voluntarily for the
p.000082: public good192.
p.000082:
p.000082:
p.000082:
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p.000082:
p.000082:
p.000082:
p.000082: 192 Record of partners’ meeting to set consortium objectives for 2014.
p.000082:
p.000082:
p.000082:
p.000082:
...
Social / Breastfeeding Children
Searching for indicator justice:
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p.000035: constitutional frailties may be revealed, of an innate and non accidental nature, the interpretation of which for the
p.000035: representation of self and the consequences for present and fu- ture life may be of major importance” 89. The
p.000035: Committee’s presentation of the rules and refer- ences was the following: “In medical genetics, some of the ordinary
p.000035: rules of medical ethics also ap- ply. But in view of the specific nature of this domain, it is immediately clear that
p.000035: there are particu- lar demands in its application, for instance as regards conventional rules of beneficial behaviour,
p.000035: autonomy of the patient (consent and confidentiality), and justice (fair distribution of risks and
p.000035: benefits, costs and advantages).”
p.000035:
p.000035:
p.000035: 86 CCNE, Opinion N° 77: Ethical Issues Raised by Collections of Biological Material and Associated Infor- mation Data:
p.000035: “Biobanks, “Biolibraries” (2003)
p.000035: 87 This raises the issue of the nature and scope of further consent and the choice which it should make available,
p.000035: of requesting or not the destruction of DNA once the test prescribed is done.
p.000035: 88 This matter is at the heart of ethical concerns regarding the merchandising of data files and biological samples,
p.000035: as practised by 23andMe, for example (vide supra).
p.000035: 89 CCNE, Opinion N°46 (1995) on “Genetics and Medicine: from Prediction to Prevention”.
...
Social / Child
Searching for indicator child:
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p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
p.000036: is important to be able to identify the causal genetic defect — or defects. Despite massive progress in the analysis
p.000036: and understanding of the genome, this is only possible in a small minority of cases. Dealing with this challenge is an
p.000036: ‘ethical imperative’ and a response to the legitimate expectations of parents called upon to care for a disabled child.
p.000036: For Arnold Munnich, for whom the primary obligation is to name the dis- ease and identify the molecular foundations,
p.000036: “... the true ethical challenge is: how can I assure my patients that all that science is aware of has been
p.000036: investigated in their particular case? That none of them have suffered any ‘loss of opportunity’? This is a taxing
p.000036: technical and economic problem in view of the fact that a severe disorder, such as mental retardation, autism,
p.000036: epilepsy, may be due to the effects of several hundred genes known and classified by science, but still untested in our
p.000036: cur- rent health care system. 91
p.000036: And yet, rather like a person looking for missing keys under a good light rather than where they were actually mislaid,
...
p.000036:
p.000036:
p.000036:
p.000036: Opinion N° 124
p.000036:
p.000036:
p.000037: 37
p.000037:
p.000037: analysed, as is the case in the prenatal context92. This is screening which, unlike diagnosis, has a demographic and
p.000037: collective dimension and is a public health concern.
p.000037: Today, neonatal screening is systematic for five diseases: cystic fibrosis, phenylketonuria, hypo- thyroidism,
p.000037: congenital adrenal hyperplasia and sickle-cell anaemia (for at-risk groups). This is biological — not genetic —
p.000037: screening (genetic screening is now available for cystic fibrosis), whose sole objective is the direct and
p.000037: immediate benefit of a child suffering from one of these conditions; its justification is that it affords the
p.000037: possibility of providing early specific treatment or appropriate management.
p.000037: Should screening become genetic or pangenomic, as is already under consideration in the United States for 56 genes, it
p.000037: would raise the issue of the child’s or future adult’s freedom. This was the subject of CCNE’s Opinion N° 97,
p.000037: concerning the screening of heterozygote93 carriers of cystic fi- brosis: “CCNE recommends above all that the
p.000037: benefit of screening should have practical conse- quences for the person being screened. Although there seems
p.000037: to be such a benefit following sys- tematic neonatal screening for homozygous forms — a status heralding disease in
p.000037: the future — this should not pave the way for heterozygote screening. As screening for the disease (homozygote or
p.000037: double heterozygote status) leads necessarily to detecting healthy carriers (heterozygote sta- tus), CCNE
p.000037: recommends that systematic disclosure of the healthy carrier status of a new-born not be encouraged, since this is of
p.000037: no direct benefit to the child concerned. There is no cause to confine a human being to his or her genetic status with
p.000037: the risk it entails of sacralising the gene.”
p.000037: With the possibility of everyone having their genome sequenced at birth appears the supple- mentary risk
p.000037: that the sequence could be analysed again and again throughout life, with as a con- sequence a constant flow of
p.000037: new information, potentially undesirable, being supplied or even foisted onto the person concerned.
p.000037: 4- Preconception screening, between individual liberty and social constraint
p.000037:
...
p.000038: children, genetic tests would be
p.000038:
p.000038: initiated to check whether both members of the cou- ple are carriers for a harmful mutation of the same gene, one
p.000038: involved in a serious and currently incura- ble disease, giving rise to the option of therapeutic termination
p.000038: of the pregnancy. In this way, the iden- tification of risk would be shifted from the foetus to its future parents.
p.000038: This identification of couples at risk of giving birth to a child affected by a serious genetic
p.000038: disease, although it is already in use in cer- tain countries for certain diseases, raises extensive and
p.000038: delicate ethical issues, in particular because it amounts to establishing a kind of “genetic risk iden- tity
p.000038: card” with the dual danger of interference into plans for union between people who intend to have children
p.000038: and of classifying or categorising such peo-
p.000038: Generalised preconception diagnosis and direct access testing (DAT)
p.000038: •‘Amby Screen’ screens for 75 paediatric re- cessive or x-linked diseases.
p.000038: •‘23andMe’ provide a more extended test schedule, including, besides the genotyping of mutations causing
p.000038: monogenic diseases, testing for polymorphisms associated with ‘multifactorial’ diseases as well as a phar-
p.000038: macogenetic profile.
p.000038: •‘GenePeeks’ whose slogan claims that pro- tecting our children is in our DNA, has on of- fer a DNA analysis
p.000038: for prospective mothers so as to find a genetically compatible gam- ete (sperm) donor for them thus preventing
p.000038: their future child from being affected by one of the serious genetic conditions on a list drawn up by GenePeeks
p.000038: themselves.
p.000038: Why, some people ask, reject what technolo-
p.000038: gy can do to ‘improve’ our condition?
p.000038: ple so that they could be subjected to discrimination or stigmatisation. This situation would raise ethical issues
p.000038: which are included in the general context of those raised by access to complete ge- nome sequencing, at whatever age.”
p.000038: This is already being done in some countries: the Genzyme Genetics company is providing a test for 98 of the most
p.000038: frequent mutations of the CFTR gene, some of which predispose for cystic fi- brosis (one at-risk couple in 1,400).
...
p.000039: Preconception screening in targeted populations could well be considered progress94, particu- larly when such
p.000039: screening applies to incurable and exceptionally severe illness. And yet, this benevolence in favour of some
p.000039: people highlights a form of injustice for populations where preva- lence of a given disease is lower and does not
p.000039: therefore qualify for the free provision of screen- ing. It would seem, therefore, that the concern is more in terms
p.000039: of insurance than for ethical mo- tives. This is the reason why some geneticists suggest that such testing should be
p.000039: done not only for high risk populations, possibly with already one child affected, but for the population at large with
p.000039: an analysis of pathologies on a specific list drawn up after careful reflection integrating eth- ical principles of
p.000039: pertinence, usefulness, interpretability, reliability, etc.
p.000039: In the United States again, the GenePeeks Corporation has on offer, for women choosing in vitro fertilisation with
p.000039: donor sperm, a service functionally equivalent to preconception screening, so that they may have a child only
p.000039: with donors supplying genetically compatible gametes. More generally, those involved with gamete storage in this
p.000039: respect, seek to reconcile essential (genet- ic) security of the donation with respect for donors, and above all to
p.000039: refrain from reducing the ethical component to no more than a benefit-to-risk ratio evaluation.95
p.000039: In the present context, therefore, it is no longer the possibility of offering preconception testing that needs to be
p.000039: discussed, since it is already on offer, but rather how it is provided. Who for? For what medical conditions? With
p.000039: what prognosis (severity)? For which possibilities of man- agement or treatment? With what timeline?
p.000039: 5- Will predictive genomics generate behavioural accountability?
p.000039:
p.000039: Back in 1995, CCNE noted:
p.000039:
...
p.000051: great degree of technicality in DNA sequencing, sequencing interpreta- tion and, above all, the massive amount of
p.000051: information it generates: “...an a priori selection of the DNA sequence to be targeted before the couple’s
p.000051: medical advisor has any say on the matter, de- prives the doctor who is the direct counterpart in the dialogue
p.000051: with the expectant mother or the couple, of any power of judgment and any possibility of responding in detail to the
p.000051: numerous ques- tions that the results of the procedure are bound to prompt. The doctor would be disempowered at a time
p.000051: when he or she would still be responsible for providing not only pregnancy follow up but also the follow up of the
p.000051: child’s life after birth.” What is true for a prenatal diagnosis, is even more ap- plicable to all the facets of
p.000051: ‘genetic medicine’.
p.000051: As discussed above, the evolutionary nature of the information provided by large scale DNA se- quencing puts physicians
p.000051: in a special position where they must answer to their patients but also to scientific progress, where they are both
p.000051: clinicians and partners in research. One important consequence of the diversity and complexity of medical data is the
p.000051: risk that physicians become ‘incapable’ of understanding the data they receive and therefore unable to report
p.000051: and explain them to their patients.
...
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
p.000053: to do so, even though, and possibly even more so, if there is a form of social pressure, or even a fashionable trend
p.000053: that this is the way to go for those who wish to have a responsible attitude towards their own health and wish to do
p.000053: their bit in the name of improving public health. Holding a genetic ID card seems to be gratifying and harmless, but
...
p.000065:
p.000065:
p.000065:
p.000065: Opinion N° 124
p.000065:
p.000065:
p.000066: 66
p.000066:
p.000066: ly acceptable possibility of using embryonic cells for diagnosis before the embryo is implanted in the womb.
p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
p.000066: (interruption volontaire de grossesse pour motif thérapeutique - ITG) as allowed by the January 17, 1975 law N° 75-17.
p.000066: The rationale on which this was based was that parents who already have one disabled child fear the birth of another
p.000066: and only accept to contin- ue with pregnancy after test results confirm that their unborn child will be normal. The
p.000066: law accepts the possibility of therapeutic termination if the foetus is very seriously impaired and cannot be treat-
p.000066: ed, the object being to allow parents to entertain the hope of giving birth later to other healthy chil- dren.
p.000066: Originally, investigation for certain foetal pathologies was undertaken in response to the prob- lem posed by the
p.000066: absence of any known therapy: if diagnosis reveals a particularly severe condition with no known cure, parents were
p.000066: given the option of resorting to what was then called ‘voluntary termination for therapeutic reasons’ , later replaced
p.000066: by the wording ‘voluntary termination for medi- cal reasons’ (interruption volontaire de grossesse pour motif médical -
p.000066: IMG).
p.000066: Historically, it was the foetal karyotype test for chromosomal anomalies, trisomy 21 in particular, which
p.000066: introduced the prenatal diagnosis into medical practice; there was general agreement regard- ing the severity and the
p.000066: consistency of mental retardation as well as on the frequency of occurrence within the population. These practices
p.000066: therefore developed in a genetic context. Foetal karyotyping, aiming initially at trisomy 21 (Down’s syndrome), can
p.000066: also evidence any other type of chromosomal anomaly, so that very soon the problem arose for trisomies 13 or 18, both
p.000066: of which give rise to very severe clinical expression, more often than not lethal, either during pregnancy or during
p.000066: the first year of the child’s life.
p.000066: With the development of molecular biology in the early eighties it became possible to identify genes directly.
p.000066: Gradually, an ever growing number of pathologies were covered. Initially, molecular biolo- gy was used to solve a
p.000066: specific problem: diagnosing prenatally a limited group of disorders. Later, its scope extended to cover any disease
p.000066: with a genetic component, which raises in particular the issue of predicting the adult onset of a disease with no known
p.000066: cure. As time went by, prenatal diagnosis became increasingly extensive so that there was a risk of more frequent
p.000066: foetal selection and, by way of consequence, fears that a new form of eugenics would emerge. This would no longer be
p.000066: govern- ment policy but instead correspond to individual preferences, with the result that society would be- come
...
p.000066:
p.000066:
p.000066: Opinion N° 124
p.000066:
p.000066:
p.000067: 67
p.000067:
p.000067: Prenatal diagnosis was initially regulated by the provisions of the law N° 94-654 dated July 29, 1994 and was defined
p.000067: as follows: “it describes medical practices aiming to detect in utero in the embryo or foetus a particularly severe
p.000067: affection. It must be preceded by medical consultation appropriate to the disorder under research.” This is a broad
p.000067: definition, but under this law, the rules applicable only ap- ply to biomedical tests with a view to discovering a
p.000067: specific condition when there is reason to suspect a particularly severe anomaly.
p.000067: Over the past twenty years, we have evolved from diagnosis for couples who already had a child with Down’s syndrome to
p.000067: diagnosis proposed to certain categories of women (initially those over 38 years old) and finally to screening, as in
p.000067: the case of prenatal screening for cystic fibrosis which was referred to CCNE162 in 2003, with the Committee opting in
p.000067: favour of generalised screening. Systematic neona- tal screening has been practised in France since 2002 to ensure
p.000067: that any medical condition is treated at the earliest possible time. Prenatal screening, however, is still excluded.
p.000067: Moreover, insofar as obstetrical and foetal ultrasound has become the primary diagnostic tool and provides foetal
p.000067: imagery so detailed that it can be used to screen for certain malformations and de- velopmental damage at ever earlier
...
p.000077: Institute for Medical Research) on the detection of certain behavioural disorders in very young children, with a
p.000077: view to improving screening, prevention and manage- ment of such childhood disorders. The Committee pointed out
p.000077: the latent confusion between risk factors and causality.
p.000077: ➢ OPINION N° 97 Ethical issues arising out of the delivery of neonatal genetic information after
p.000077: screening for genetic disorders (May 2007)
p.000077: Thoughts on the delivery to parents of genetic information concerning their newborn child when screening for cystic
p.000077: fibrosis reveals a heterozygote status. The Opinion addressed the subject of non information and the right ‘not to
p.000077: know’. After a prospective analysis, the Committee called for taking into account the ethical consequences of current
p.000077: technological developments in genetic testing. It warned of the danger that scientific and technological
p.000077: breakthroughs could lead to “...founding the choice of our behaviour, not on ethical reflection but on obtaining
p.000077: automatically generated data through the use of new techniques when they are neither expected nor planned for.”
p.000077: ➢ OPINION N°98 Biometrics, identifying data and human rights. (April 2007)
p.000077:
...
p.000078: storage in biobanks. Ethical issues. (February 2012)
p.000078: This Opinion was concerned with biobanks and the use made of them and with the identification of stored samples.
p.000078:
p.000078:
p.000078:
p.000078:
p.000078:
p.000078: Opinion N° 124
p.000078:
p.000078:
p.000079: 79
p.000079:
p.000079: ➢ OPINION N°120 Ethical issues in Connection with the development of foetal genetic testing on maternal
p.000079: blood. (April 2013)
p.000079: CCNE considered developments in human genomic tools which do not always lead to therapeutic progress. They do inform
p.000079: parents on their future child’s chances of being affected by a particular- ly severe genetic disease or disability and
p.000079: are therefore helpful in providing improved gestation management. They raise a large number of ethical issues however
p.000079: which society must address.
p.000079: CCNE’s thinking was that the ongoing and very rapid developments of human genomic technology can not be disregarded.
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
...
Searching for indicator disabled:
(return to top)
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
p.000036: In neonatology, geneticists are mainly concerned with diagnosis. It is contained in the singular dialogue between
p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
p.000036: is important to be able to identify the causal genetic defect — or defects. Despite massive progress in the analysis
p.000036: and understanding of the genome, this is only possible in a small minority of cases. Dealing with this challenge is an
p.000036: ‘ethical imperative’ and a response to the legitimate expectations of parents called upon to care for a disabled child.
p.000036: For Arnold Munnich, for whom the primary obligation is to name the dis- ease and identify the molecular foundations,
p.000036: “... the true ethical challenge is: how can I assure my patients that all that science is aware of has been
p.000036: investigated in their particular case? That none of them have suffered any ‘loss of opportunity’? This is a taxing
p.000036: technical and economic problem in view of the fact that a severe disorder, such as mental retardation, autism,
p.000036: epilepsy, may be due to the effects of several hundred genes known and classified by science, but still untested in our
p.000036: cur- rent health care system. 91
...
p.000065: 161 Article 225-3 1° of the Code Pénal. (criminal code)
p.000065:
p.000065:
p.000065:
p.000065: Opinion N° 124
p.000065:
p.000065:
p.000066: 66
p.000066:
p.000066: ly acceptable possibility of using embryonic cells for diagnosis before the embryo is implanted in the womb.
p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
p.000066: (interruption volontaire de grossesse pour motif thérapeutique - ITG) as allowed by the January 17, 1975 law N° 75-17.
p.000066: The rationale on which this was based was that parents who already have one disabled child fear the birth of another
p.000066: and only accept to contin- ue with pregnancy after test results confirm that their unborn child will be normal. The
p.000066: law accepts the possibility of therapeutic termination if the foetus is very seriously impaired and cannot be treat-
p.000066: ed, the object being to allow parents to entertain the hope of giving birth later to other healthy chil- dren.
p.000066: Originally, investigation for certain foetal pathologies was undertaken in response to the prob- lem posed by the
p.000066: absence of any known therapy: if diagnosis reveals a particularly severe condition with no known cure, parents were
...
Searching for indicator children:
(return to top)
p.000013: of genetic tests, generating an illusion of simplicity, using the language of codes and predisposition, seems to drive
p.000013: us from reductionism21 to a certain degree of determinism, as though our genes were ‘all-powerful’ and cut us off from
p.000013: the relationship we maintain with our
p.000013:
p.000013:
p.000013: 17 The penetrance of a genetic disease is the frequency with which the carrier of a gene mutation express- es the
p.000013: disease. It is due to a combination of genetic and environmental factors.
p.000013: 18 CCNE, Opinion N° 95 (1995): Ethical Issues Raised by Prediction Based on Detection of Early Behav-
p.000013: ioural Disorders in Children: The history of science teaches us that attempting to reduce to a single criterion the
p.000013: determination of someone's future is doomed to failure. A single-dimensioned template for analysis is a "Mis-measure"
p.000013: of man. (Stephen Jay Gould. The Mismeasure of Man, 1981).
p.000013: 19 Weil-Dubuc Paul-Loup, “Dépasser l'incertitude” Le pari hasardeux de la médecine prédictive” (Beyond un- certainty.
p.000013: The hazardous wager of predictive medicine). in Esprit, 2014/7 July, p. 20-29.
p.000013: 20 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000013: Prevention.”
...
p.000017:
p.000017: Up to the present time, genetic studies were mostly limited to seeking out in a patient’s DNA a small number of
p.000017: distinctive genetic markers (< 10) chosen because of their suspected implica- tion in a medical diagnostic hypothesis.
p.000017: The remainder of the DNA sequence being left ‘unread’.
p.000017: So-called next generation sequencing or very high throughput sequencing is used to acquire, simultaneously
p.000017: and in a short time, the sequence of hundreds of genes, or even to acquire the full exome or genome sequence31. It is
p.000017: essential to distinguish here between three phases: ac- quisition, assembly, annotation/interpretation of the
p.000017: sequence32. Annotation and interpre-
p.000017:
p.000017:
p.000017:
p.000017: 28 An example: the respiratory consequences of oxidative particulate pollution in children suffering from cystic
p.000017: fibrosis (genotype delta F508 homozygote) would differ depending on whether they are, or are not, carriers of a
p.000017: mutation sensitising them to oxidative stress.
p.000017: 29 The RNA uses a 4-letter alphabet complementing the DNA alphabet.
p.000017: 30 We are host to a very large number of bacteria on and inside our body (over ten times more than human cells) in
p.000017: particular in the gut, and we are beginning to discover that they play a role which goes far beyond purely digestive
p.000017: functions.
p.000017: 31 Genes coding proteins only represent a small fraction of the genome, i.e. 1 to 2%. The exome designates the
p.000017: sequence of 20 to 25,000 genes coding for proteins. The function of the majority of the three billion bases making up
p.000017: the genome is still largely unknown.
...
p.000023: support the notion of innate behaviour and those giving preference to psychological and sociological crime
p.000023: factors. The studies favouring innateness have served to support ‘genetic defence’ theories for
p.000023: criminal accountability or screening programmes for a potential ‘crime gene’ which apart from having
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
...
p.000036: In its Opinion N° 120, CCNE underlined that in the field of prenatal genetic tests, “It would seem essential therefore,
p.000036: to muster up and comply with the conditions enabling couples to benefit from true freedom of choice and take an
p.000036: independent and informed decision. As a complement, collec- tive efforts to engage in research as well as provide
p.000036: assistance, counselling and care must continue so that the systematic offer to diagnose […] in no way suggests to
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
...
p.000037:
p.000037:
p.000037:
p.000037:
p.000037: Opinion N° 124
p.000037:
p.000037:
p.000038: 38
p.000038:
p.000038: process when there is an index case in the family. It therefore concerns, a priori, couples in which
p.000038: both parents might be a heterozygous carrier of a predisposition for a severe pathology, but in the future it could
p.000038: extend to the population at large, i.e. to people who are not, a priori, at risk.
p.000038: This possibility was raised in Opinion N° 120: “The idea would be that before conceiving, or be- fore any plan to bear
p.000038: children, genetic tests would be
p.000038:
p.000038: initiated to check whether both members of the cou- ple are carriers for a harmful mutation of the same gene, one
p.000038: involved in a serious and currently incura- ble disease, giving rise to the option of therapeutic termination
p.000038: of the pregnancy. In this way, the iden- tification of risk would be shifted from the foetus to its future parents.
p.000038: This identification of couples at risk of giving birth to a child affected by a serious genetic
p.000038: disease, although it is already in use in cer- tain countries for certain diseases, raises extensive and
p.000038: delicate ethical issues, in particular because it amounts to establishing a kind of “genetic risk iden- tity
p.000038: card” with the dual danger of interference into plans for union between people who intend to have children
p.000038: and of classifying or categorising such peo-
p.000038: Generalised preconception diagnosis and direct access testing (DAT)
p.000038: •‘Amby Screen’ screens for 75 paediatric re- cessive or x-linked diseases.
p.000038: •‘23andMe’ provide a more extended test schedule, including, besides the genotyping of mutations causing
p.000038: monogenic diseases, testing for polymorphisms associated with ‘multifactorial’ diseases as well as a phar-
p.000038: macogenetic profile.
p.000038: •‘GenePeeks’ whose slogan claims that pro- tecting our children is in our DNA, has on of- fer a DNA analysis
p.000038: for prospective mothers so as to find a genetically compatible gam- ete (sperm) donor for them thus preventing
p.000038: their future child from being affected by one of the serious genetic conditions on a list drawn up by GenePeeks
p.000038: themselves.
p.000038: Why, some people ask, reject what technolo-
p.000038: gy can do to ‘improve’ our condition?
p.000038: ple so that they could be subjected to discrimination or stigmatisation. This situation would raise ethical issues
...
p.000045: are in a state of medical frailty, are they in a position where they can give free and informed consent
p.000045: committing themselves for the future? Should
p.000045: they be asked to consider receiving an in-
p.000045:
p.000045: flow of information at a future time once the interpretation of their DNA sequencing has made further progress,
p.000045: or to consent to the conservation of their DNA and further study of the sequence, or to accept the shar- ing of
p.000045: their data, etc.
p.000045: A specific case, although at first sight it does seem to be no more than an exacerbation of issues previously raised,
p.000045: is that of the ‘free and informed consent’ of children, some- times even of neonates or during foetal ex- istence.
p.000045: The primary value of information supplied is its usefulness for those con- cerned. As we have
p.000045: discussed above, this usefulness is sometimes only assumed, since it is based on probabilities, on the risk
p.000045: of onset of a disease or of an inherited disa- bility, or an anomaly for which the causal
p.000045: The HeLa cells: an emblematic case of human genetic material
p.000045: conservation.
p.000045: In 1951 American researchers sampled cells from the cervical cancer tumour of a young impoverished black
p.000045: woman without her knowledge or consent. These were the first human cells that researchers were able to keep alive
...
p.000054: 122 Moreover, the various parties concerned, in particular technical operators, should certainly be invited to set up
p.000054: privacy friendly technology (favouring the protection of privacy and personal data) by introduc- ing the concept of
p.000054: privacy protection from the outset (privacy by design), by designating dedicated per- sonnel for data protection
p.000054: within organisms collecting such personal data, by creating a right to be delist- ed based on the right to oppose the
p.000054: processing of an individual’s own personal data, by inversing ‘public by default’ to ‘private by default’, etc.
p.000054: 123 This situation is representative of others: (i) the parents of underage children holding the rights be- longing
p.000054: to their offspring, following constant legislation; (ii) ascendants and collaterals of people to be listed
p.000054: in the French automated national genetic prints DNA database (FNAEG - Fichier National Automati- sé des Empreintes
p.000054: Génétiques).
p.000054:
p.000054:
p.000054:
p.000054:
p.000054: Opinion N° 124
p.000054:
p.000054:
p.000055: 55
p.000055:
p.000055: al’s privacy and the furtherance of public health must always be drawn up so as to define clearly the limitations and
p.000055: privileges of personal capacity rights.
p.000055: 4- Modifications to information and consent procedures
p.000055:
...
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
p.000058: 127 “Closing the gap in a generation. Health equity through action on the social determinants of health.” Fi- nal
...
p.000076: ➢ OPINION N° 90 Access to origins, anonymity and confidentiality of filiation. (November 2005)
p.000076:
p.000076:
p.000076:
p.000076:
p.000076:
p.000076: Opinion N° 124
p.000076:
p.000076:
p.000077: 77
p.000077:
p.000077: The Opinion considered filiation as related to procreation in an era of ‘biological traceability’ and the risk of
p.000077: reducing human beings to the manner in which they were conceived.
p.000077: ➢ OPINION N° 95 Ethical issues raised by prediction based on detection of early behavioural disor- ders in children.
p.000077: (January 2007)
p.000077: CCNE was concerned with regard to the ethical implications of prediction, following a report by INSERM (French National
p.000077: Institute for Medical Research) on the detection of certain behavioural disorders in very young children, with a
p.000077: view to improving screening, prevention and manage- ment of such childhood disorders. The Committee pointed out
p.000077: the latent confusion between risk factors and causality.
p.000077: ➢ OPINION N° 97 Ethical issues arising out of the delivery of neonatal genetic information after
p.000077: screening for genetic disorders (May 2007)
p.000077: Thoughts on the delivery to parents of genetic information concerning their newborn child when screening for cystic
p.000077: fibrosis reveals a heterozygote status. The Opinion addressed the subject of non information and the right ‘not to
...
Social / Educational
Searching for indicator education:
(return to top)
p.000013: given to play should be reassigned to several cellular actors. In fact, in the previous century, biological research
p.000013: has been essentially analytical. The gene and then the genome are evidence of the success of reductionism. But it
p.000013: would seem that the time has come to change this attitude. It is no longer possible to burden the gene alone with all
p.000013: the properties that it was initially thought to be in possession of. Biological research and interest are now
p.000013: focusing on the interaction between different cellular components. This does not detract, however, from the genetic
p.000013: determinism affecting individuals.”
p.000013:
p.000013:
p.000013:
p.000013:
p.000013: Opinion N° 124
p.000013:
p.000013:
p.000014: 14
p.000014:
p.000014: environment, our education, all the history that made us human22. The genome is not the arbiter of our fate and
p.000014: knowledge of the genome is not yet of very much use to us for the treatment of the complex and multifactorial diseases
p.000014: which make up the major part of the public health bur- den of an ageing population.
p.000014: Biological complexity cannot, any more than can genetic determinism, accommodate the notion that a standard genome
p.000014: could be defined. To suppose the existence of a ‘normal genome’, set once and for all in some way when humans evolved
p.000014: and distanced themselves from non human primates, and that it should be preserved, is illusory. To speak of ‘normal’
p.000014: genes and ‘mutant’ genes is an aberration since all of our genes, products of evolution, are by
...
Searching for indicator educational:
(return to top)
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
...
Social / Ethnicity
Searching for indicator ethnic:
(return to top)
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
p.000026: scientific progress. It marks the end of mass medicine and the beginning of almost bespoken medi- cine; the
...
p.000052: • Transparency (information provided to those concerned);
p.000052: • Respect for personal rights (informing those concerned and the right to object; rights of ac- cess and correction
p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
...
Social / Fetus/Neonate
Searching for indicator capacity:
(return to top)
p.000009: health policies are headed in an interventionist direction10.
p.000009:
p.000009: 8 “The human genome sequence accessible in databases today is as complete as current techniques per- mit.” states
p.000009: the Génoscope, underlining that the concept of completion depends entirely on the state of technology at a
p.000009: given point in time.
p.000009: (http://www.genoscope.cns.fr/spip/Le-projet-Genome-humain.html?artsuite=1#FAQ2),
p.000009: 9 Initially, the (empirical) law expressed by Gordon Moore in 1965, predicted that the complexity of semi- conductors
p.000009: doubled every year at constant cost. This ‘law’ was updated on several occasions and was generalised to
p.000009: mean that a phenomenon (speed, capacity, cost reduction, etc.) doubled every eighteen months, a value that
p.000009: is not given in any of Moore’s own presentations.
p.000009: 10 Qualitative/quantitative leaps as initiated by current genomics:
p.000009: • Passing from measuring a single parameter belonging to an individual to measuring all the parameters; passing from a
p.000009: small number of specific genetic markers, selected and interpretable by a physician (to document a medical diagnostic
p.000009: hypothesis) to non targeted full genome sequencing, without any a pri- ori.
p.000009: • Shifting from analysis targeting a disease (in response to a symptom) to analysis targeting an individual in good
...
p.000018: again at any time and its inter- pretation could progress to keep abreast with scientific breakthroughs34. This
p.000018: research is linked to the clinical approach and guarantees the dynamic analysis and interpretation of the entire ge-
p.000018: nome or exome. There is a high probability of identifying variants which are not linked to the disease giving rise
p.000018: to the genetic study, and their interpretation may be uncertain. The man- agement of these ‘incidental or
p.000018: secondary findings’35 is one of the major ethical issues raised by these new technologies.
p.000018: This incidental findings issue, as also that of the evolutionary nature of scientific knowledge, are particularly
p.000018: worthy of attention in the case of prenatal studies now that geneticists have this new capacity of being
p.000018: able to sequence the genome of a foetus from a sample of maternal blood. This issue was considered by CCNE in its
p.000018: Opinion N° 120.
p.000018: b- The uncertainties of sequencing: the challenges of quality and interpretation.
p.000018:
p.000018: Very high throughput genome (or exome) sequencing seeks to identify variants whose causal link with the
p.000018: expression of a disease (the variant will, or will not, have pathological consequenc- es) can be predicted. Certainty
p.000018: is therefore essential and this is currently the main limitation, for at least two reasons:
p.000018:
p.000018: al being recognised by a specific bar code) which reduces considerably the time needed (and the cost) of sequencing.
p.000018: Assembly: this phase consists in aligning small segments of raw sequences to determine their succession and reconstruct
...
p.000031: human DNA sequencing — a debate which is situated at the centre of all the genetic scientific and technical
p.000031: developments and which was already the subject of its Opin- ion N° 120 — the point to be made from the outset is
p.000031: that there is a certain amount of inter- communication between information and the exploitation of storable and
p.000031: usable DNA sequenc- ing data. This is probably a major ethical upheaval: from the start, from the genetic data
p.000031: acquisi- tion phase onwards, individuals are at the heart of this process of implication and participation although
p.000031: they may not necessarily be aware of it.
p.000031: A- At the boundary between research and medicine, constructing a science on uncertainty Impressive developments in
p.000031: DNA sequencing capacity and applying them to activities such as identification, genealogy and even more
p.000031: significantly to precision medicine and public health, should not make us forget that the greatest
p.000031: challenges of modern genetics are related to knowledge and therefore to research. Nor should they prevent us
p.000031: from seeing that new ge- nomic acquisitions (human genomics particularly) are opening a path to the now non specula-
p.000031: tive possibility of modifying DNA sequences.
p.000031: 1- The theory of uncertainty and risk.
p.000031:
p.000031: Contrary to the impression gained from media and commercial sources, the determination or analysis of DNA
p.000031: sequencing data provides information fraught with uncertainty75. The first level of uncertainty is irreducible; it is
...
p.000053: holder regrets having published information based on data that can be interpreted, and even interpreted again at a
p.000053: later date and whose nuisance po- tential was not suspected initially.
p.000053: Protection of privacy protects individuals from unwarranted revelations, sources of knowledge by the public of facts of
p.000053: a private nature and incursions on their dignity or liberty119. The right to data self-determination, a concept
p.000053: defined by the German Constitutional Court in 1983, should be promoted; it is not a right of ownership in the
p.000053: traditional meaning of the term, but a personal right to “guarantee in principle the capacity of an individual to
p.000053: decide on the communication and use made of personal data”. Using the concept of ownership rights would turn
p.000053: individuals into managers of a heritage whereas the right to self-determination is a reminder that they must re- tain
p.000053: the ability to make decisions on their own behalf. It would be necessary to organise a ‘droit d’alerte’ (whistleblower
p.000053: protection) for data protection based on the same principles as those of the law dated December 6, 2013, which is a
p.000053: general ‘droit d’alerte’ for all crimes or offences. For instance, collective measures for the protection of personal
...
p.000054: 123 This situation is representative of others: (i) the parents of underage children holding the rights be- longing
p.000054: to their offspring, following constant legislation; (ii) ascendants and collaterals of people to be listed
p.000054: in the French automated national genetic prints DNA database (FNAEG - Fichier National Automati- sé des Empreintes
p.000054: Génétiques).
p.000054:
p.000054:
p.000054:
p.000054:
p.000054: Opinion N° 124
p.000054:
p.000054:
p.000055: 55
p.000055:
p.000055: al’s privacy and the furtherance of public health must always be drawn up so as to define clearly the limitations and
p.000055: privileges of personal capacity rights.
p.000055: 4- Modifications to information and consent procedures
p.000055:
p.000055: Consent is obviously required for the storage of, and access to, genetic data. It cannot, however, have the same
p.000055: impact as in cases where data is collected for a specific purpose since it is as- sumed that
p.000055: interpretation of the genome is work in progress and could reveal, at a later time, in- formation that the researchers
p.000055: had not expected at the time the data was collected.
p.000055: The requirement for free and informed consent — to use the traditional wording which is some- times criticised because
...
p.000081:
p.000081: Increasing options, informing choice: A report on precon- ception genetic testing and screening
p.000081: The Human Genetics Commission – April 2011
p.000081: Having considered the issues associated with preconception genetic testing, in our view, there are no specific ethical,
p.000081: le- gal or social principles that would make preconception ge- netic testing within the framework of a population
p.000081: screen- ing programme unacceptable. Indeed, there are good rea- sons why earlier testing is favoured over later
p.000081: testing, as it facilitates wider patient choice and improved access
p.000081: to information supporting reproductive decision-making.
p.000081: sufficiently flexible and astute for them not to inhibit the capacity for adapting to an evolving
p.000081: technology and social standards for privacy, a number of ethics committees, in particular in the English
p.000081: speaking world, are seeking to draft recommendations with the aim of providing a framework and a set of good practices
p.000081: and thereby the means with which to manage science and technology as they apply to health policies, both public and
p.000081: individual. A remaining doubt, however, is whether such ambitions are altogether realistic.
p.000081: As they apply to whole populations, in particular as regards health (predictive medicine) the rules for good practices
...
Social / Gender
Searching for indicator gender:
(return to top)
p.000075: While considering the possibility of products or processes derived from genome sequencing being patented, if specific
p.000075: conditions are met, CCNE stood firm on the principle that genes cannot be patented. The Committee insisted that
p.000075: any knowledge concerning the genome must be made open to the entire community.
p.000075: ➢ OPINION N° 30 Ethical issues raised by mandatory genetic testing for female participants in the Albertville games.
p.000075: (January 1992)
p.000075: This very focused Opinion concluded negatively on the use of biological determination (genetic) gender testing as a
p.000075: method to detect potential fraud in competitive sport.
p.000075: ➢ OPINION N°33 Opinion concerning the identification of patients suffering from glaucoma in France and on chromosomal
p.000075: location of the causative gene or genes. (January 1993)
p.000075: Opinion on a research protocol challenging the principles set out in Opinion N° 25. It recalled the need to protect
p.000075: the confidentiality of genetic information, privacy and medical confidentiality.
...
Searching for indicator sex:
(return to top)
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
p.000023: genealogical research and claim respectively a hundred and twenty thousand and six hundred thousand clients”. (B
p.000023: Jordan. 2013. Med Sci (Paris); 29 : 1167–1170). The market is estimated as being worth US$250 million by 2018.
p.000023: 50 As regards criminal investigation, based on genetic material found on the crime scene, information can be extracted
p.000023: on the physical appearance of the unknown person (sex, eye, hair and skin colour, etc.). The
p.000023:
p.000023:
p.000023:
p.000023: Opinion N° 124
p.000023:
p.000023:
p.000024: 24
p.000024:
p.000024: Nor should it be forgotten that the advent of new sequencing techniques could modify the scope of behavioural genetics,
p.000024: particularly as regards criminal investigation (see box).
p.000024:
p.000024: B- The legal context51
p.000024:
p.000024: At this time, two categories of rules apply:
p.000024:
p.000024: 1° French rules, most of them stemming from the 1994 bioethics laws52 on the principle of limit- ing the use of
p.000024: genetic tests to medical and scientific research53 purposes alone and on the organ- isation of the identification of
p.000024: genetic diseases for predictive54 purposes as well as for antena- tal55 diagnosis, but also from law n° 2002-303
...
p.000025: generic heritage is not radically different from discrimination based on race64.
p.000025:
p.000025: 58 Explanatory report, Dec. 1996, § 4, http://conventions.coe.int/Treaty/FR/Reports/Html/164.htm. The additional
p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
...
p.000026: has the right to the protection of personal data concerning him or her. 2. Such data must be pro- cessed fairly for
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
...
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
p.000035: link between such information and that derived from genomic analysis, which is not in essence anonymous, is obviously a
p.000035: risk to the integrity of anonymity. It would not even be unthinkable to suppose that a link between such information
p.000035: and the exist- ence of a biological sample stored in a biobank86, whose DNA could be sequenced at any time87, is also a
p.000035: threat to anonymity88.
p.000035: Currently, the dispersion of data files, despite their constantly growing numbers, seems to pro- tect against this
p.000035: threat. They are, however, increasingly easy to interconnect, in particular with the help of the computerised
...
Social / Homeless Persons
Searching for indicator neonate:
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p.000021: acquired de novo) and are transmitted to descendants. They therefore in- volve the family.
p.000021: • In this constitutional genetic context, genetic studies have led to considerable advances: the number of
p.000021: Mendelian diseases which could be attributed to certain mutations of a single gene, numbered a total of 5 in
p.000021: 1982, 150 in 1990 and nearly 3,000 in 2011. In the particular case of neonatology, this may concern etiological
p.000021: research in the presence of a clinical symp- tomatology without any specific diagnosis (malformation, mental
p.000021: retardation), which is only successful in a quarter of cases. Or it may be a process of systematic neonate DNA
p.000021: analysis, in the absence of any specific warning sign, so as to reveal genetic defects and in the event of positive
p.000021: responses, to organise possible preventive measures. Clinical validity and usefulness, in particular for systematic
p.000021: studies, are debated on a case-by-case basis and may raise ethical issues; conservation of sequences and their possible
p.000021: re-examination throughout the subject’s life can have a serious impact on public health, particularly if a large number
p.000021: of people can be ‘genetically’ monitored. Some thinkers foresee a time when every human being’s genome will be
p.000021: sequenced at birth so as to prepare for a more ‘informed’ treatment of the individual’s fu- ture health. As regards
...
Social / Incarcerated
Searching for indicator liberty:
(return to top)
p.000026: scientific uncertainty?
p.000026: ........................................................................................................................
p.000026: .....p. 32
p.000026: B. The genome: where personal privacy, the heritage and common property converge ......................... p. 34 1-
p.000026: Can sequencing data be made anonymous?
p.000026: ...................................................................................... p. 34 2- Do the technical
p.000026: advances in genetics leave enough scope for freedom and/or autonomy? .......... p. 35 3- From diagnosis to screening,
p.000026: from the individual to the community ................................................ p. 36 4- Preconception screening,
p.000026: between individual liberty and social constraint ..................................... p. 37 5- Will predictive
p.000026: genomics generate behavioural responsibility? ....................................................... p. 39
p.000026: C. The genome at the boundary between information and consent
p.000026: ......................................................... p. 41
p.000026: 1- The ethical challenges of genetic data
p.000026: ................................................................................................ p. 41
p.000026: 2- Misuse of genetic information and consequential risks
p.000026: .................................................................... p. 42
p.000026: 3- Psychological risks
p.000026: ........................................................................................................................
...
p.000037: no direct benefit to the child concerned. There is no cause to confine a human being to his or her genetic status with
p.000037: the risk it entails of sacralising the gene.”
p.000037: With the possibility of everyone having their genome sequenced at birth appears the supple- mentary risk
p.000037: that the sequence could be analysed again and again throughout life, with as a con- sequence a constant flow of
p.000037: new information, potentially undesirable, being supplied or even foisted onto the person concerned.
p.000037: 4- Preconception screening, between individual liberty and social constraint
p.000037:
p.000037: Preconception screening opens the way for couples to access data on hereditary pathologies be- fore they conceive.
p.000037: In this country, preconception screening currently concerns couples pre- senting the risk of a monogenic
p.000037: hereditary disease. It takes place as part of a genetic counselling
p.000037:
p.000037:
p.000037: 92 Issues related to prenatal diagnosis and screening were examined in detail in two recent Opinions pub- lished by
p.000037: CCNE, N° 107 (2009) “On Ethical Issues in Connection with Antenatal Diagnosis: Prenatal Diagno- sis (PND) and
p.000037: Preimplantation Genetic Diagnosis (PGD)”, and N° 120 (2013) on “Ethical Issues in Connection with the Development of
...
p.000053: their own person-
p.000053:
p.000053: 118 Kuwait, for instance, was the first country to require all its residents to have on record identity docu-
p.000053: mentation based on DNA testing, on a compulsory basis. Such a decision would be illegal in Europe and contrary to
p.000053: the decisions of the European Court of Human Rights (CEDH). (sources:
p.000053: http://www.rfi.fr/moyen-orient/20150714-koweit-impose-fichage-adn-ensemble-population-test/)
p.000053: 119 Halpérin JL, « Protection de la vie privée et privacy : deux traditions juridiques différentes ? », Les Nou- veaux
p.000053: Cahiers du Conseil constitutionnel 2015/3 (N° 48), p. 59-68 ; Whitman J, “The Two Western Cultures of Privacy: Dignity
p.000053: v. Liberty”, The Yale Law Journal, 2004, 113, p. 1151-1221; Rosen J, The Unwanted Gaze: The Destruction of Privacy in
p.000053: America, New York, Vintage Books, 2000; Post RC, “Three Concepts of Priva- cy”, Georgetown Law Journal, 2001, 89, p.
p.000053: 2087,2098.
p.000053: 120 Report by the Conseil d’État (Council of State, highest French administrative jurisdiction): Le numérique et les
p.000053: droits fondamentaux, La Documentation française, Paris, 2014.
p.000053:
p.000053:
p.000053:
p.000053: Opinion N° 124
p.000053:
p.000053:
p.000054: 54
p.000054:
p.000054: al data, defining a chain of accountability starting with data collecting organisms through to final users, attaching
p.000054: metadata to personal data indicating the purposes for which the data was col- lected and thereby, defining restrictions
p.000054: on its use121, etc. 122
...
p.000067:
p.000067:
p.000067:
p.000067: Opinion N° 124
p.000067:
p.000067:
p.000068: 68
p.000068:
p.000068: In conclusion, it can be noted that, according to a study made by the Council of Europe, French law is evolving in
p.000068: harmony with a general trend of authorising prenatal diagnosis for medical purposes, with certain variations
p.000068: in national legislation from one country to another164.
p.000068: 3- Protection of personal data
p.000068:
p.000068: Rules protecting personal data have evolved with technological developments. Beginning with the French law n° 78-17
p.000068: of 6th January 1978 on Information Technology, Data Files and Civil Liberty, they mainly applied to manual and
p.000068: computerised data banks set up by government departments165. With particular emphasis on the defence of public
p.000068: liberties, its first article proclaims that: information technology must be at the service of each and every
p.000068: citizen. […]. It must not be a threat to human identity, to human rights, to privacy, nor to individual and
p.000068: public liberties. But very soon after its adoption, the predominant issues debated were those arising out of
p.000068: the development of databases created by private enterprise.
p.000068: The increase in both national and international flows of personal data transiting through automated processing led to
...
p.000068: Committee on Bioethics (CDBI)
p.000068: http://www.coe.int/t/dg3/healthbioethic/Source/INF_2010_6_dpidpn_fr.pdf
p.000068: 165 Following on from the SAFARI project (Système automatisé pour les Fichiers Administratifs et le Réper- toire des
p.000068: Individus - Automated administrative identification system) put forward by INSEE (French na- tional statistics
p.000068: bureau) in 1971.
p.000068: 166 Adopted by the Council of Europe.
p.000068:
p.000068:
p.000068:
p.000068: Opinion N° 124
p.000068:
p.000068:
p.000069: 69
p.000069:
p.000069: level of protection167 throughout the Member States168. This directive was transposed into French
p.000069: legislation very belatedly by law n° 2004-801 of August 6th 2004169, as France feared a decline in in- dividual liberty
p.000069: and protection of privacy. This is in fact the case in particular for health related data for which processing is
p.000069: prohibited but which can be overturned by explicit consent on the part of the person concerned.
p.000069: However the legal framework was set up in 1995 at a time when use of the Internet was in its infan- cy. The rapid
p.000069: development of technologies facilitation the acquisition and sharing of data in a global context led the European Union
p.000069: to prefer “...a comprehensive, coherent, modern, high-level frame- work able to protect effectively individuals'
...
p.000069: data” (8th Recital, Directive 95/46/EC, October 24th 1995.
p.000069: 168 Hence the statement that “Whereas the principles of the protection of the rights and freedoms of individ- uals,
p.000069: notably the right to privacy, which are contained in this Directive, give substance to and amplify those contained in
p.000069: the Council of Europe Convention of 28 January 1981”. 11th Recital of Directive 95/46/EC of 24 October 1995.
p.000069: 169 Law on the protection of individuals with regard to the processing of personal data with modification to law N°
p.000069: 78-17 of January 6th 1978 on Information Technology, Data Files and Civil Liberty.
p.000069: 170 European Parliament resolution of 6 July 2011 on a comprehensive approach on personal data
p.000069: protection in the European Union
p.000069: (2011/2025(INI)), http://www.europarl.europa.eu/sides/getDoc.do?pubRef=-//EP//TEXT+TA+P7-TA-2011-
p.000069: 0323+0+DOC+XML+V0//FR&language=FR
p.000069: 171 Ibid.
p.000069: 172 On 24th June 2015, the European Parliament, the Council and the European Commission entered into co-decision
p.000069: negotiations with regard to the proposal for a general regulation on data protection, a proce- dure known as an
...
p.000070: 28 July 2015, 13,
p.000070: https://secure.edps.europa.eu/EDPSWEB/webdav/site/mySite/shared/Documents/Consultation/Opinio
p.000070: ns/2015/15-07-27_GDPR_Recommendations_EN.pdf
p.000070: 174 CJUE C-362 14 Schrems v Data Protection Commissioner 6
p.000070: Oct. 2015, http://curia.europa.eu/juris/liste.jsf?num=C-362/14 et Conclusions Y. Bot,
p.000070: 23 Sept. 2015, http://curia.europa.eu/juris/document/document.jsf?text=&docid=168421&pageIndex=0&doclang=FR&
p.000070: mode=lst&dir=&occ=first&part=1&cid=326249
p.000070: 175 The French law on Information Technology, Data Files and Civil Liberty in a similar fashion states that “The data
p.000070: controller may not transfer personal data to a State that is not a Member of the European Union if this State does not
p.000070: provide a sufficient level of protection of individual privacy, liberties and fundamen- tal rights with regard to the
p.000070: actual or possible processing of their personal data” (Article 68); but it adds “However, the data controller may
p.000070: transfer the personal data to a State not satisfying the conditions pro- vided for in Article 68 if the data subject
p.000070: has expressly consented to their transfer...”.
p.000070:
p.000070:
p.000070:
p.000070:
p.000070: Opinion N° 124
p.000070:
p.000070:
p.000071: 71
p.000071:
...
p.000071: State from examining an individual’s request with regard to the protection of personal rights and liberties which had
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
p.000071: practices in force in that third country did not ensure a level of protection of fundamental rights equivalent to that
p.000071: guaranteed within the European Union.
p.000071: Although some of these rules are still being debated and others are invalidated, the data emerging from clinical
p.000071: medical practices and genetic research is currently regulated by the French law on In- formation Technology, Data Files
p.000071: and Civil Liberty; this refers to medical and genetic data and also data related to biomedical samples. The law
p.000071: prohibits the collection or processing of health related data176, of which genetic data177 is an integral part; but as
p.000071: an exception to this principle, it allows for the possibility of processing if the person concerned has given
p.000071: express consent178 ; similarly, pro- cessing based on genetic data cannot be used without authorisation but this is
p.000071: not required if physi- cians or biologists are doing the processing and it is necessary for medical prevention, medical
p.000071: diag-
p.000071:
p.000071:
p.000071:
p.000071: 176 Article 8 of law n° 78-17 of 6 January 1978 modified and emerging from Directive 95/46/EC of 24 Oc- tober 1995.
...
Searching for indicator restricted:
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p.000009: which was not arrived at following the individual’s own request — and uncertainty regarding its significance for
p.000009: the health of the individual that confront us with the true boundaries of knowledge. It follows that it is the
p.000009: issue of the feedback to the individual, regardless of whether the data was, or was not, procured in a medical context,
p.000009: and also the data’s degree of uncertainty, that now arise. Furthermore, these technical devel- opments may move us
p.000009: from a time when the main object of genetics was to explain dis- eases to a situation where genetics are focusing on
p.000009: the prediction of disease, with the at- tendant risk of personal liberties being restricted in the event that public
p.000009: health policies are headed in an interventionist direction10.
p.000009:
p.000009: 8 “The human genome sequence accessible in databases today is as complete as current techniques per- mit.” states
p.000009: the Génoscope, underlining that the concept of completion depends entirely on the state of technology at a
p.000009: given point in time.
p.000009: (http://www.genoscope.cns.fr/spip/Le-projet-Genome-humain.html?artsuite=1#FAQ2),
p.000009: 9 Initially, the (empirical) law expressed by Gordon Moore in 1965, predicted that the complexity of semi- conductors
p.000009: doubled every year at constant cost. This ‘law’ was updated on several occasions and was generalised to
...
p.000016: characterising the global physiological status of an individual at a given point in time in a given environment.
p.000016: Phenotypes differ from genetic data in that they reflect the actual status of an individual (as op- posed to what can
p.000016: be deduced from a gene sequence) and that they are dynamic (varying with time and the environment) and therefore
p.000016: reversible, whereas genomes are relatively ‘immuta-
p.000016: ble’ throughout life.
p.000016:
p.000016: To the above can be associated ‘microbiome’ se- quencing, all the genomes of the multiple bacteria colonising our
p.000016: bodies and which have a consider- able influence on our physiological status. This also is eminently variable.
p.000016: It would therefore be possible to move on from biology restricted to the study of one or several genes and of a
p.000016: few bi- ochemical parameters to a more global biology embracing in a more integrated way the study of a network
p.000016: of molecules with an effect on the complexity of individuals and therefore of their diseases. Combining
p.000016: genome analysis (evaluat- ing a risk) and the collective measure of actual
p.000016: Microbiota or microbiome
p.000016: The intestinal microbiome is now under study as an organ in its own right (in particular, ‘faecal trans-
p.000016: plantation procedures’ are becoming a possibility) engaging in complex interaction with its host organ- ism (the
p.000016: immune system, for instance). It is thought to be involved in some human pathologies such as obesity,
...
p.000019: the results genotype-phenotype correlation financed by NIH. The database is managed by NIH; the 1000
p.000019: Genomes Project has a database open to public access.
p.000019: (http://www.1000genomes.org/data- #DataAccess)
p.000019:
p.000019:
p.000019:
p.000019: Opinion N° 124
p.000019:
p.000019:
p.000020: 20
p.000020:
p.000020: culty of data protection41. The risk seems even greater in the very buoyant field of data sharing over the internet
p.000020: and social networks. Protecting personal and public data versus restricted ac- cess to databases which are no longer
p.000020: confined to national frontiers is currently one of the main areas of ethical issues to be considered42, with certain
p.000020: currents of opinion to the effect that “… the ethics norms that govern clinical research are not suited for the wide
p.000020: range of data privacy and consent issues in today's social networks and bioinformatics systems” 43.
p.000020: Reflection on the management of large bodies of data (‘big data’) is increasingly conspicuous on the international
p.000020: scene. The Council of Europe, for example, is reflecting on ethical issues arising out of ‘big data’ connected
...
p.000044: evolutionary nature of the interpretation and comprehension of the ge- nome sequence makes it necessary to consider
p.000044: that it is only when information is anchored in a time frame can it be deemed true, sincere and welcome and that,
p.000044: therefore, free and informed consent also has only a limited lease of life. When people participate in research
p.000044: programmes such as those mentioned above, they are required to give general and unlimited consent which, in itself,
p.000044: raises a time limit issue, but seems to be the only course of action if research is to be made possible. Reflection
p.000044: and debate are ongoing on the subject of broad or restricted consent, which will probably lead to rethinking the whole
p.000044: question of free and informed consent (see in- fra). Moreover, should consent be seen as within the competence of
p.000044: strictly personal autonomy? What of the consent of the next of kin?
p.000044: Do we own the information contained in our genome?
p.000044:
p.000044: In the case of more targeted research projects, as may be the case in an oncological context, complete
p.000044: genome sequencing techniques may simply be faciliatory, or be a necessity if the object is to compare the tumoral and
...
Social / Linguistic Proficiency
Searching for indicator language:
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p.000013: At a time when biological development was beginning to move away from molecular reduction- ism in the direction of
p.000013: biological complexity, CCNE spoke a word of warning: “The myth of the gene as the stuff of which life itself is
p.000013: programmed, is such that of it is born the illusion that per- fect knowledge of the genome of an individual will lead
p.000013: to an understanding of the reality and fate of that individual. Metaphors such as the book of life which would give
p.000013: access to the essen- tial human being if only one could decipher the genetic alphabet and syntax, refer to that notion.
p.000013: Such a concept is scientifically unacceptable and ethically dangerous20. And yet, technical wiz- ardry in the field
p.000013: of genetic tests, generating an illusion of simplicity, using the language of codes and predisposition, seems to drive
p.000013: us from reductionism21 to a certain degree of determinism, as though our genes were ‘all-powerful’ and cut us off from
p.000013: the relationship we maintain with our
p.000013:
p.000013:
p.000013: 17 The penetrance of a genetic disease is the frequency with which the carrier of a gene mutation express- es the
p.000013: disease. It is due to a combination of genetic and environmental factors.
p.000013: 18 CCNE, Opinion N° 95 (1995): Ethical Issues Raised by Prediction Based on Detection of Early Behav-
p.000013: ioural Disorders in Children: The history of science teaches us that attempting to reduce to a single criterion the
...
p.000023: more about their ancestry “Bring your ancestry to life” says the 23andMe website, and trace your “lineage” through
p.000023: genetic links. In the genealogical indication — unlike medical prediction — results are robust, but they use other
p.000023: markers. Advertising for these studies is aimed directly at the con- sumer, and the sale of tests and communication
p.000023: of results is addressed directly to the consumer. Usually, members of the medical professions do not play any
p.000023: role. This does lead to health-
p.000023: related, economic and social risks and
p.000023:
p.000023: raises ethical issues.
p.000023:
p.000023: Another use for DNA is what English- language literature calls forensic DNA phenotyping, i.e. the
p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
p.000023: Predisposed to violence?
p.000023:
p.000023: The late 19th century theories on ‘born criminals’ have trig- gered controversy and debate between studies claiming to
p.000023: support the notion of innate behaviour and those giving preference to psychological and sociological crime
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p.000025:
p.000025: 58 Explanatory report, Dec. 1996, § 4, http://conventions.coe.int/Treaty/FR/Reports/Html/164.htm. The additional
p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
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p.000069: 169 Law on the protection of individuals with regard to the processing of personal data with modification to law N°
p.000069: 78-17 of January 6th 1978 on Information Technology, Data Files and Civil Liberty.
p.000069: 170 European Parliament resolution of 6 July 2011 on a comprehensive approach on personal data
p.000069: protection in the European Union
p.000069: (2011/2025(INI)), http://www.europarl.europa.eu/sides/getDoc.do?pubRef=-//EP//TEXT+TA+P7-TA-2011-
p.000069: 0323+0+DOC+XML+V0//FR&language=FR
p.000069: 171 Ibid.
p.000069: 172 On 24th June 2015, the European Parliament, the Council and the European Commission entered into co-decision
p.000069: negotiations with regard to the proposal for a general regulation on data protection, a proce- dure known as an
p.000069: informal ‘trilogue’. The basis for the negotiation is the Commission’s proposals of Janu- ary 2012, the Parliament’s
p.000069: legislative resolution of 12th March 2014 and the Council’s General Approach adopted on 15th June 2015. The three
p.000069: institutions are committed to dealing with the general regulation as part of the wider reform package on data
p.000069: protection which includes the proposed directive for police and judicial activities. This process should be completed
...
Social / Marital Status
Searching for indicator single:
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p.000009: the Génoscope, underlining that the concept of completion depends entirely on the state of technology at a
p.000009: given point in time.
p.000009: (http://www.genoscope.cns.fr/spip/Le-projet-Genome-humain.html?artsuite=1#FAQ2),
p.000009: 9 Initially, the (empirical) law expressed by Gordon Moore in 1965, predicted that the complexity of semi- conductors
p.000009: doubled every year at constant cost. This ‘law’ was updated on several occasions and was generalised to
p.000009: mean that a phenomenon (speed, capacity, cost reduction, etc.) doubled every eighteen months, a value that
p.000009: is not given in any of Moore’s own presentations.
p.000009: 10 Qualitative/quantitative leaps as initiated by current genomics:
p.000009: • Passing from measuring a single parameter belonging to an individual to measuring all the parameters; passing from a
p.000009: small number of specific genetic markers, selected and interpretable by a physician (to document a medical diagnostic
p.000009: hypothesis) to non targeted full genome sequencing, without any a pri- ori.
p.000009: • Shifting from analysis targeting a disease (in response to a symptom) to analysis targeting an individual in good
p.000009: health, unsupported by a diagnostic hypothesis, to screen for a risk run by individuals with the purpose of improving
p.000009: their well-being (preventing disease). In which case there is a risk of leaving be- hind a medical framework where the
p.000009: individual is taking an initiative and is in control to one where so- ciety is imposing a norm.
...
p.000011: genome plasticity (mobile genetic components) and probably to its evolution.
p.000011: gradually gathering more ‘knowledge’ about it. Using the same metaphor, DNA is just a se- quence of
p.000011: letters but we still need to discover the words (genes), the meaning of the words and sentences reflecting the various
p.000011: ways in which cells and organs, and even whole organisms, use them. To be precise, it is rather more the products of
p.000011: genes than the genes themselves that con- struct the meaning of sentences and therefore the function. The
p.000011: choice of words depends on very complex not entirely genetic interactions in a normal individual. In most of the
p.000011: more fre- quent diseases, they are disordered whereas genetic ‘monogenic’ complaints due to the absence or replacement
p.000011: of letters in a single gene, are often severe and are rare or even very rare.
p.000011:
p.000011:
p.000011:
p.000011: 12 The 1000 Genomes Project Consortium. A global reference for human genetic variation. 2015. Nature; 526: 68-74. The
p.000011: UK10K Consortium. The UK10K project identifies rare variants in health and disease. 2015. Na- ture; 526: 82-90.
p.000011: 13 In those ten years, the cost of sequencing and the time required for doing so was divided by two million.
p.000011: 14 CCNE, Opinion N° 120.
p.000011:
p.000011:
p.000011:
p.000011: Opinion N° 124
p.000011:
p.000011:
p.000012: 12
p.000012:
p.000012: 1- Genetics, between science and practice
p.000012:
...
p.000013: us from reductionism21 to a certain degree of determinism, as though our genes were ‘all-powerful’ and cut us off from
p.000013: the relationship we maintain with our
p.000013:
p.000013:
p.000013: 17 The penetrance of a genetic disease is the frequency with which the carrier of a gene mutation express- es the
p.000013: disease. It is due to a combination of genetic and environmental factors.
p.000013: 18 CCNE, Opinion N° 95 (1995): Ethical Issues Raised by Prediction Based on Detection of Early Behav-
p.000013: ioural Disorders in Children: The history of science teaches us that attempting to reduce to a single criterion the
p.000013: determination of someone's future is doomed to failure. A single-dimensioned template for analysis is a "Mis-measure"
p.000013: of man. (Stephen Jay Gould. The Mismeasure of Man, 1981).
p.000013: 19 Weil-Dubuc Paul-Loup, “Dépasser l'incertitude” Le pari hasardeux de la médecine prédictive” (Beyond un- certainty.
p.000013: The hazardous wager of predictive medicine). in Esprit, 2014/7 July, p. 20-29.
p.000013: 20 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000013: Prevention.”
p.000013: 21 Reductionism denounced by François Jacob in his preface to the French edition of Evelyn Fox Keller’s book “The
p.000013: Century of the Gene”, Gallimard, 2003 “Perhaps, over the course of time, has there been too much emphasis on
...
p.000019: as is the design of appropriate software.
p.000019: The question of what should be kept and for how long is becoming a crucial problem and this is also true of links to
p.000019: personal and phenotypic data. We are entering an era of databases40, where the internationalisation of storage and
p.000019: access adds to the risk of privacy erosion and to the diffi-
p.000019:
p.000019:
p.000019:
p.000019: 36 This is called redundancy or depth or coverage.
p.000019: 37 For example the 1000 Genomes Project and the Exome Variant Server.
p.000019: 38 To keep it simple linguistically, monogenic disease is the expression used to qualify a genetic condition the cause
p.000019: of which depends on the existence of a single gene mutation. Frequently, expressivity and pene- trance of the disease
p.000019: depend on other genetic factors or other factors besides this simple mutation.
p.000019: 39 This participation is often described in research as a partnership.
p.000019: 40 dbGaP, The database of Genotypes and Phenotypes (dbGaP) was developed by the NIH (USA) to archive and distribute
p.000019: the results genotype-phenotype correlation financed by NIH. The database is managed by NIH; the 1000
p.000019: Genomes Project has a database open to public access.
p.000019: (http://www.1000genomes.org/data- #DataAccess)
p.000019:
p.000019:
p.000019:
p.000019: Opinion N° 124
p.000019:
p.000019:
p.000020: 20
p.000020:
...
p.000021: There must be a clear distinction between constitutional genetic modifications, those which were present in
p.000021: the one-celled egg — or zygote — and will therefore be found in every cell of the body, and ‘somatic’ modifications
p.000021: which are acquired by a few cells during the course of the life of an organism, such as for instance in cancer genesis.
p.000021: The first category of modifications are present in the gametes and often inherited from ances- tors (they may also be
p.000021: acquired de novo) and are transmitted to descendants. They therefore in- volve the family.
p.000021: • In this constitutional genetic context, genetic studies have led to considerable advances: the number of
p.000021: Mendelian diseases which could be attributed to certain mutations of a single gene, numbered a total of 5 in
p.000021: 1982, 150 in 1990 and nearly 3,000 in 2011. In the particular case of neonatology, this may concern etiological
p.000021: research in the presence of a clinical symp- tomatology without any specific diagnosis (malformation, mental
p.000021: retardation), which is only successful in a quarter of cases. Or it may be a process of systematic neonate DNA
p.000021: analysis, in the absence of any specific warning sign, so as to reveal genetic defects and in the event of positive
p.000021: responses, to organise possible preventive measures. Clinical validity and usefulness, in particular for systematic
p.000021: studies, are debated on a case-by-case basis and may raise ethical issues; conservation of sequences and their possible
...
p.000022: Results of such studies encourage consumers to adapt their lifestyle to ge- netic susceptibilities that have been
p.000022: identified and possibly initiate medical monitoring47. The main issues concern accuracy (quality control and
p.000022: redundancy), the validity and clinical useful- ness of data, the need for genetic counselling or the possibility of
p.000022: abusive exploitation of person- al data48.
p.000022:
p.000022:
p.000022:
p.000022:
p.000022:
p.000022: governed by Mendelian transmission. Clinically, genetic tests are performed. Mutations for genes BRCA1 and BRCA2,
p.000022: associated with a high risk of breast and ovarian cancers are emblematic of these predispos- ing factors.
p.000022: 46 SNP: pronounced snip is a single nucleotide polymorphism, i.e. a genetic marker made up of the variation of a
p.000022: single base (letter) at a given point on the DNA. Frequent SNP occurrence detection is very widely in use at present.
p.000022: 47 “Knowing that my personal risk of contracting diabetes is 20, 30 or 40% higher than average — mean- ing that my
p.000022: risk in absolute terms is 1.2 to 1.4% instead of the usual 1% — is that really what you can call an essential item of
p.000022: information which is likely to make we want to adopt a healthier diet?” (B Jordan, MS 2010). This market is evaluated
p.000022: as worth $250 million in 2018.
p.000022: 48 23andMe have recently sold their genetic database (Parkinson’s disease) to Genentech for $60 million.
p.000022:
p.000022:
p.000022:
p.000022: Opinion N° 124
p.000022:
p.000022:
p.000023: 23
p.000023:
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p.000051: in a special position where they must answer to their patients but also to scientific progress, where they are both
p.000051: clinicians and partners in research. One important consequence of the diversity and complexity of medical data is the
p.000051: risk that physicians become ‘incapable’ of understanding the data they receive and therefore unable to report
p.000051: and explain them to their patients.
p.000051: Genetic data being a subject for research, this means that it opens up horizons at least as much as it provides
p.000051: answers, thus creating a certain amount of perplexity: we are not sure where all this is taking us. Our thinking on
p.000051: the subject should therefore enable us to single out the issues to which physicians obviously, but also educators
p.000051: and teachers, society and legislators should devote attention, although we are still unsure of the exact perimeter
p.000051: of these new areas. Taking into account the great number of players, some of whom are offering purely
p.000051: commercial ser- vices, how do we determine who will be answerable and how reliable and comprehensible in- formation
p.000051: should be delivered, although this is essential in order to obtain a person’s consent? How can we ensure that the use
p.000051: made of genetic data serves no other purpose than the one for which it was collected? How and by whom should the
p.000051: individual be informed of the genetic data collected and even more important, of its interpretation and of the
p.000051: uncertainties attached to this interpretation?
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Social / Mothers
Searching for indicator mothers:
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p.000035: 89 CCNE, Opinion N°46 (1995) on “Genetics and Medicine: from Prediction to Prevention”.
p.000035:
p.000035:
p.000035:
p.000035: Opinion N° 124
p.000035:
p.000035:
p.000036: 36
p.000036:
p.000036: In its Opinion N° 120, CCNE underlined that in the field of prenatal genetic tests, “It would seem essential therefore,
p.000036: to muster up and comply with the conditions enabling couples to benefit from true freedom of choice and take an
p.000036: independent and informed decision. As a complement, collec- tive efforts to engage in research as well as provide
p.000036: assistance, counselling and care must continue so that the systematic offer to diagnose […] in no way suggests to
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
...
p.000038: and of classifying or categorising such peo-
p.000038: Generalised preconception diagnosis and direct access testing (DAT)
p.000038: •‘Amby Screen’ screens for 75 paediatric re- cessive or x-linked diseases.
p.000038: •‘23andMe’ provide a more extended test schedule, including, besides the genotyping of mutations causing
p.000038: monogenic diseases, testing for polymorphisms associated with ‘multifactorial’ diseases as well as a phar-
p.000038: macogenetic profile.
p.000038: •‘GenePeeks’ whose slogan claims that pro- tecting our children is in our DNA, has on of- fer a DNA analysis
p.000038: for prospective mothers so as to find a genetically compatible gam- ete (sperm) donor for them thus preventing
p.000038: their future child from being affected by one of the serious genetic conditions on a list drawn up by GenePeeks
p.000038: themselves.
p.000038: Why, some people ask, reject what technolo-
p.000038: gy can do to ‘improve’ our condition?
p.000038: ple so that they could be subjected to discrimination or stigmatisation. This situation would raise ethical issues
p.000038: which are included in the general context of those raised by access to complete ge- nome sequencing, at whatever age.”
p.000038: This is already being done in some countries: the Genzyme Genetics company is providing a test for 98 of the most
...
Social / Philosophical Differences/Difference of Opinion
Searching for indicator opinion:
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p.000001:
p.000001: 1
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p.000001: National Consultative Ethics Committee for Health and Life Sciences
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p.000001: OPINION N° 124
p.000001:
p.000001: Ethical Reflection on Developments in Genetic Testing in Connection with Very High Throughput Human DNA
p.000001: Sequencing
p.000001:
p.000001:
p.000001:
p.000001:
p.000001: Opinion published on January 21st 2016
p.000001:
p.000001:
p.000001:
p.000001: Opinion N° 124
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p.000002: Members of the Working Group
p.000002: ***
p.000002:
p.000002:
p.000002: Christiane BASSET Laure COULOMBEL
p.000002: Frédérique DREIFUSS-NETTER Cynthia FLEURY (rapporteur) Patrick GAUDRAY (rapporteur)
p.000002: Claude MATUCHANSKY (up to 2014) Francis PUECH
p.000002: *
p.000002: Philippe ROUVILLOIS (up to 2014)
p.000002: Dominique STOPPA-LYONNET
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p.000002: * This Opinion is dedicated to the memory of Philippe Rouvillois
p.000002:
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p.000002: Opinion N° 124
p.000002:
p.000002:
p.000003: 3
p.000003:
p.000003:
p.000003:
p.000003: Personalities Heard
p.000003: ***
p.000003:
p.000003: Laurent ALEXANDRE: Urologist, surgeon, President of DNAvision, Belgium
p.000003: Henri ATLAN: Professor Emeritus of Biophysics, Director of the Human Biology
p.000003: Research Centre, Hadassah Medical Center, Jerusalem, Israel
p.000003: François BAUMANN: General Practitioner, Founder and former President of the Société
p.000003: de Formation Thérapeutique du Généraliste (SFTG) (Society for GP therapy training)
p.000003: Roger BESSIS: Sonographer, former President of the Collège
p.000003: français
p.000003: d’échographie fœtale (French College of Foetal Ultrasonology)
...
p.000003: Jean-Louis MANDEL: Geneticist, Professor, Collège de France Anne-Laure MORIN:
p.000003: Lawyer, with ALM-avocats
p.000003: Arnold MUNNICH: University Professor - Hospital Practitioner, Institut
p.000003: Imagine
p.000003: UMR-1163 INSERM and Paris Descartes University, Necker - Enfants Malades Hospital, Paris
p.000003: Christine NOIVILLE: Research Supervisor, CNRS. President of HCB. Director of the Centre
p.000003: de recherche en droit des sciences et des techniques (Research Centre for Science and Technology (UMR8056,
p.000003: Université Paris 1)
p.000003: Nicole PHILIP: University Professor - Hospital Practitioner, Genetics
p.000003: Department,
p.000003: La Timone Hospital, Marseilles
p.000003:
p.000003:
p.000003:
p.000003: Opinion N° 124
p.000003:
p.000003:
p.000004: 4
p.000004:
p.000004:
p.000004:
p.000004: Dominique POLTON: Counsellor to the Director General of the Caisse nationale d'assur-
p.000004: ance maladie des travailleurs salariés (CNAMTS), (National employ- ee sickness insurance system), President,
p.000004: Commission des comptes de la santé (Public health accounts Commission)
p.000004: Michel VIDAUD: University Professor - Hospital Practitioner, Director of EA7331 Gé-
p.000004: nétique, physiopathologie et approches thérapeutiques des mala- dies héréditaires du système nerveux
p.000004: (Genetics, physiopathology and therapeutic approach to hereditary disease of the nervous sys- tem)- Paris Descartes
p.000004: University, member of the CNAMTS scientific council.
p.000004: Géraldine VIOT: Paediatrician, geneticist, Paris Centre Teaching Hospital - Groupe
p.000004: hospitalier Cochin St Vincent de Paul, Cochin Hospital, 75014 Paris
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p.000004: Opinion N° 124
p.000004:
p.000004:
p.000005: 5
p.000005:
p.000005: CONTENTS
p.000005: ***
p.000005: Foreword................................................................................................................
p.000005: .......................................... p. 7
p.000005: I/ Why a new
p.000005: Opinion?................................................................................................................
p.000005: .................. p. 8
p.000005: II/ How does the current context modify ethical reflection on human genomics? p. 11
p.000005: A. The Scientific
p.000005: context.................................................................................................................
p.000005: .............. p. 11
p.000005: 1- Genetics, between science and practice
p.000005: ............................................................................................. p. 12
p.000005: 2- Biological complexity and genetic determinism
p.000005: ................................................................................ p. 13
p.000005: 3- The limits of genomics: the contribution of epigenetics
p.000005: .................................................................... p. 14
...
p.000026: ........................................................................................................................
p.000026: ....... p. 43
p.000026: 4- What forms of consent? For what purposes?
p.000026: .................................................................................... p. 44
p.000026: 5- The right to know, the right not to
p.000026: know............................................................................................ p. 45
p.000026: IV / Main issues arising out of this
p.000026: reflection........................................................................................... p. 47
p.000026: A. The place of genetics in the evolution of medical
p.000026: practices................................................................... p. 48
p.000026:
p.000026:
p.000026:
p.000026: Opinion N° 124
p.000026:
p.000026:
p.000006: 6
p.000006:
p.000006:
p.000006: 1- Place and role of genetics under consideration
p.000006: p. 48
p.000006: 2- Precision medicine
p.000006: ........................................................................................................................
p.000006: ....... p. 49
p.000006: 3- A different relationship with disease
p.000006: .................................................................................................. p. 50
p.000006: 4- A different relationship with the prevention of disease
p.000006: .................................................................... p. 50
p.000006: 5 The physician’s place and role
p.000006: .............................................................................................................. p. 51
p.000006: B. Reflection needed on respect and protection of privacy
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p.000006: data.................................................................................................................
p.000006: p. 68
p.000006: B. CCNE Opinions pertinent to genetic testing and its
p.000006: applications........................................................... p. 74
p.000006: C. The international dimension
p.000006: ................................................................................................................... p.
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p.000080: Opinion N° 124
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p.000080:
p.000007: 7
p.000007:
p.000007: Foreword
p.000007: In April 2013, CCNE published an Opinion (N° 120) on “Ethical Issues in Connection with the Development
p.000007: of Foetal Genetic Testing on Maternal Blood”. The Committee emphasised at the time that this would be the first step
p.000007: in a more extensive appraisal of the whole subject of wider use of high throughput DNA sequencing and its medical and
p.000007: societal implications.
p.000007: In that Opinion, CCNE observed1 that in the near future it could become technically easier, and probably cheaper, to
p.000007: do so-called whole2 genome sequencing than to select short regions of in- terest for targeted sequencing. At this
p.000007: time, such developments could, and in fact should, be the subject of a progress report. Identifying a mutation or
p.000007: another genomic anomaly (of a chromo- some for instance) causing a disease is a necessary scientific and medical first
p.000007: step so that the expectations of families falling victim to a genetic disease can be satisfied (‘naming the disease’ is
p.000007: part of the therapeutic process3). It is also the gateway to perceiving, in the medium or the longer term,
p.000007: possibilities for treatment or even the cure of diagnosed genetic diseases or disabil- ities.
p.000007: Genomics in this era of very high throughput DNA sequencing plays a role in the creation of gi- gantic health related
p.000007: data bases (‘big data’) raising considerable ethical challenges, particularly as regards the right to privacy.
p.000007: Furthermore, growing knowledge and understanding of the ge- nome pave the way for increasingly specific and
p.000007: sophisticated procedures involving human DNA4, which cannot fail to raise vast ethical issues both as regards
p.000007: somatic cells (cellular gene therapy) and reproductive or embryonic cells (germ cell gene therapy). CCNE has already
p.000007: start- ed on a review of these two subjects but wished to devote this Opinion to consideration of genet- ic testing
p.000007: developments made possible by very high throughput DNA sequencing.
p.000007: Technical progress already achieved or currently in the making in the field of human genomics stands at the meeting
p.000007: point between fundamental research and clinical medicine, so that it has an impact on many aspects of the lives of
p.000007: individuals, families and communities. CCNE proposes to devote some preliminary thinking on the conditions to be
p.000007: observed for a regulatory system to be both effective and respectful of individual rights.
p.000007:
p.000007:
p.000007:
p.000007:
p.000007:
p.000007: 1 There was no intention of moral judgement in this observation.
p.000007: 2 In fact, the whole DNA of an individual is rarely sequenced except for research applications. The ‘whole genome’
p.000007: wording is used in reference to sequencing very large areas of the genome on a non selective ba- sis.
p.000007: 3 Audition of Prof. Arnold Munnich, 12/05/2014.
p.000007: 4 Sometimes referred to as ‘correcting’.
p.000007:
p.000007:
p.000007:
p.000007: Opinion N° 124
p.000007:
p.000007:
p.000008: 8
p.000008:
p.000008:
p.000008:
p.000008: I/ Why a new Opinion?
p.000008: The improvement of human health is a goal that the vast majority considers to be legitimate and “No one can deny that
p.000008: in the course of our history, Science has been the source of progress and has contributed to improving human
p.000008: well-being.”5. Genetic testing, be it for medical or non medical purposes, and progress in genetic research now open
p.000008: onto a broad vista of knowledge and major hopes for improving medical performance, in for example, therapy
p.000008: optimisation, preventive medicine or even health economics.
p.000008: Prevention, and even prediction, have always aroused interest, but the real sea-change is that we now have instruments
p.000008: which can achieve these aims. This is a field in which “Scientific and tech- nological breakthroughs could lead to
...
p.000008: quantities of data whose interpretation, in particu- lar in terms of medical impact, is facilitated by its application
p.000008: to cohorts numbering thousands of individuals. Dauntingly vast computing resources, but also statistical and
p.000008: mathematical re- sources are required for the management, storage and particularly interpretation of such data. The
p.000008: provisioning of such resources is a real challenge in itself and in terms of the power issues, in particular economic
p.000008: ones, which it raises.
p.000008: This type of ‘global’ sequencing could, in the very near future, become more accessible even for the analysis of a
p.000008: particular gene. Considering the evolution of the cost of sequencing since the
p.000008:
p.000008:
p.000008: 5 CCNE, Opinion N° 109 (2010): Society and the Communication of Scientific and Medical Information: Ethi- cal Issues.
p.000008: 6 CCNE, Opinion N°97 (2007): Ethical Issues Arising out of the Delivery of Neonatal Genetic Information af- ter
p.000008: Screening for Genetic Disorders (the Examples of Cystic Fibrosis and Sickle-Cell Disease).
p.000008: 7 “There is one quality more important than know-how […]. This is know-what by which we determine not only how to
p.000008: accomplish our purposes, but what our purposes are to be”. Wiener N. Cybernetics and Society, 1954.
p.000008:
p.000008:
p.000008:
p.000008: Opinion N° 124
p.000008:
p.000008:
p.000009: 9
p.000009:
p.000009: first ‘full8’ human DNA sequencing published twelve years ago, three successive phases can be observed. The first of
p.000009: these, in the period of time up to 2007 or 2008, follows a curve similar to what is commonly known as ‘Moore’s
p.000009: law’ 9; the second phase, covering 2008 to 2012, corre- sponds to a technical leap forward combined with
p.000009: a cost factor reduction of about 2000; the third phase, since 2012, represents a certain amount of
p.000009: stabilisation of developments in se- quencing costs. The time elapsing since the first phase, together with this
p.000009: form of stabilisation of the ‘state of the art’, can be used to make an assessment, a practical feedback appraisal of
p.000009: what sequencing can actually achieve. The scientific discoveries thus accessed are in constant evolu- tion. Perhaps
...
p.000009: their well-being (preventing disease). In which case there is a risk of leaving be- hind a medical framework where the
p.000009: individual is taking an initiative and is in control to one where so- ciety is imposing a norm.
p.000009: • Risk of misuse on human beings of what amounts to a ‘purely technological exercise’
p.000009: • Shift to bioinformatic management which must integrate a discussion of the protection of privacy
p.000009: (anonymisation). The massive quantity of data produced by today’s sequencing techniques is no longer
p.000009:
p.000009:
p.000009:
p.000009: Opinion N° 124
p.000009:
p.000009:
p.000010: 10
p.000010:
p.000010:
p.000010:
p.000010: It is with these issues in mind that CCNE decided to turn once again, without any a priori, to a general reflection
p.000010: on ethics regarding a set of concerns that UNESCO summed up in 2002 in what appeared on the surface to be
p.000010: a simple question: “Bioethics: The ethics of genetics”11, alt- hough it contains a thorny query which cannot and must
p.000010: not be ignored: how far is too far?
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p.000010: manageable by traditional and individual publishing and archiving methods. Bioinformatics and data banks
p.000010: are an additional threat on privacy and data protection.
p.000010: 11UNESCO Courier, May 2002. It is worth noting that the primary purpose of this publication is to promote UNESCO ideals
p.000010: and serve as a platform for dialogue between different cultures.
p.000010:
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p.000010:
p.000010:
p.000010: Opinion N° 124
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p.000010:
p.000011: 11
p.000011:
p.000011: II/ How does the current context modify ethical reflection on human genomics?
p.000011: A- The scientific context
p.000011:
p.000011:
p.000011: We have known for seventy years that DNA is the main carrier of hereditary traits and in 2003 the first whole
p.000011: human DNA (nuclear) sequence was established. Techniques for achieving this results have evolved in almost
p.000011: unimaginable proportions so that only ten years later, we had DNA sequences for sever- al thousand people12,
p.000011: the whole procedure can be done in a few hours at a cost of little more than a thousand Euros13, and we
p.000011: can sequence foetal DNA using a maternal blood sample14.
p.000011: We are now beginning to be capable of ‘read- ing’ the letters of the ‘DNA alphabet’ con- tained in the
...
p.000011: choice of words depends on very complex not entirely genetic interactions in a normal individual. In most of the
p.000011: more fre- quent diseases, they are disordered whereas genetic ‘monogenic’ complaints due to the absence or replacement
p.000011: of letters in a single gene, are often severe and are rare or even very rare.
p.000011:
p.000011:
p.000011:
p.000011: 12 The 1000 Genomes Project Consortium. A global reference for human genetic variation. 2015. Nature; 526: 68-74. The
p.000011: UK10K Consortium. The UK10K project identifies rare variants in health and disease. 2015. Na- ture; 526: 82-90.
p.000011: 13 In those ten years, the cost of sequencing and the time required for doing so was divided by two million.
p.000011: 14 CCNE, Opinion N° 120.
p.000011:
p.000011:
p.000011:
p.000011: Opinion N° 124
p.000011:
p.000011:
p.000012: 12
p.000012:
p.000012: 1- Genetics, between science and practice
p.000012:
p.000012: The success of genome technology, anticipating the interpretation of individual genomes, paves the way for so-called
p.000012: ‘predictive’ medicine. Does it not act as an incentive to force the pace, to ignore the vast and still
p.000012: unresolved areas of
p.000012:
p.000012: uncertainty, or even to neglect genetics as a science, as a scientific theory of heredity?
p.000012: Rather than just a tool, genetics is a fundamental science studying the vertical
p.000012: transmission of
p.000012: “Although we lack curiosity about the past,
p.000012: we avidly question those who promise to reveal a glimpse of the future”
p.000012: Pierre-Louis Moreau de Maupertuis (1698- 1759), in Vénus physique, 1745.
...
p.000012: dominant), on the penetrance of muta-
p.000012:
p.000012:
p.000012:
p.000012:
p.000012:
p.000012: 15 A phenotype is the composite of an individual’s observable characteristics in contrast with the underly- ing
p.000012: genetic composition (genotype). A phenotype is related to morphological or physiological, or even be- havioural
p.000012: traits. The relationship between phenotype and genotype is not unequivocal since there is no total phenotypical
p.000012: identity between two identical (monozygotic) twins.
p.000012: 16 Stricto sensu the expression ‘genetic diagnosis’ should only be used in the case of monogenic diseases so that a
p.000012: disease can be characterised by the identification of a mutation.
p.000012:
p.000012:
p.000012:
p.000012: Opinion N° 124
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p.000012:
p.000013: 13
p.000013:
p.000013: tions17 or their correlation to different forms of the disease (‘genotype/phenotype’ relationship), etc.
p.000013: For certain genetic disorders and diseases, genetic analysis gives access to effective therapy or preventive treatment.
p.000013: It is therefore medically appropriate. But this is not always the case and we may well wonder whether there is any
p.000013: point in knowing about a genetic prediction or risk when there is no possible therapy.
p.000013: It is important to remember that prediction, particularly in medical matters, designates “the an- ticipation of events
p.000013: which are only probable and recognised as such” so that it not by any means stating that something is actually going to
...
p.000013: Such a concept is scientifically unacceptable and ethically dangerous20. And yet, technical wiz- ardry in the field
p.000013: of genetic tests, generating an illusion of simplicity, using the language of codes and predisposition, seems to drive
p.000013: us from reductionism21 to a certain degree of determinism, as though our genes were ‘all-powerful’ and cut us off from
p.000013: the relationship we maintain with our
p.000013:
p.000013:
p.000013: 17 The penetrance of a genetic disease is the frequency with which the carrier of a gene mutation express- es the
p.000013: disease. It is due to a combination of genetic and environmental factors.
p.000013: 18 CCNE, Opinion N° 95 (1995): Ethical Issues Raised by Prediction Based on Detection of Early Behav-
p.000013: ioural Disorders in Children: The history of science teaches us that attempting to reduce to a single criterion the
p.000013: determination of someone's future is doomed to failure. A single-dimensioned template for analysis is a "Mis-measure"
p.000013: of man. (Stephen Jay Gould. The Mismeasure of Man, 1981).
p.000013: 19 Weil-Dubuc Paul-Loup, “Dépasser l'incertitude” Le pari hasardeux de la médecine prédictive” (Beyond un- certainty.
p.000013: The hazardous wager of predictive medicine). in Esprit, 2014/7 July, p. 20-29.
p.000013: 20 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000013: Prevention.”
p.000013: 21 Reductionism denounced by François Jacob in his preface to the French edition of Evelyn Fox Keller’s book “The
p.000013: Century of the Gene”, Gallimard, 2003 “Perhaps, over the course of time, has there been too much emphasis on
p.000013: attributing too many properties, capacities and capabilities to genes. It would seem that the part that it was
p.000013: given to play should be reassigned to several cellular actors. In fact, in the previous century, biological research
p.000013: has been essentially analytical. The gene and then the genome are evidence of the success of reductionism. But it
p.000013: would seem that the time has come to change this attitude. It is no longer possible to burden the gene alone with all
p.000013: the properties that it was initially thought to be in possession of. Biological research and interest are now
p.000013: focusing on the interaction between different cellular components. This does not detract, however, from the genetic
p.000013: determinism affecting individuals.”
p.000013:
p.000013:
p.000013:
p.000013:
p.000013: Opinion N° 124
p.000013:
p.000013:
p.000014: 14
p.000014:
p.000014: environment, our education, all the history that made us human22. The genome is not the arbiter of our fate and
p.000014: knowledge of the genome is not yet of very much use to us for the treatment of the complex and multifactorial diseases
p.000014: which make up the major part of the public health bur- den of an ageing population.
p.000014: Biological complexity cannot, any more than can genetic determinism, accommodate the notion that a standard genome
p.000014: could be defined. To suppose the existence of a ‘normal genome’, set once and for all in some way when humans evolved
p.000014: and distanced themselves from non human primates, and that it should be preserved, is illusory. To speak of ‘normal’
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p.000014: suggests that they can be transmitted in germ
p.000014:
p.000014:
p.000014:
p.000014:
p.000014: 22 "Le déterminisme génétique consiste à soutenir que l'état futur d'un organisme est prédictible sur la base de sa
p.000014: composition génétique. C'est impossible en l'absence de spécification d'un environnement". (Genetic de- terminism
p.000014: consists in asserting that the future state of an organism is predictable on the basis of its genet- ic composition.
p.000014: This is an impossibility in the absence of a specified environment). Jean Gayon. “Prédire ou Expliquer ?” Sciences et
p.000014: Avenir Hors-Série, L'empire des gènes - 2003.
p.000014: 23 Editorial of Nature; 518, 273 (19 February 2015).
p.000014: 24 When a cell uses a gene, the gene is transcribed into RNA which is in its turn translated into a protein.
p.000014:
p.000014:
p.000014:
p.000014: Opinion N° 124
p.000014:
p.000014:
p.000015: 15
p.000015:
p.000015: cells, therefore by individuals to their descendants, which opens the door to the possibility of a degree of heredity
p.000015: of acquired characteristics over several generations25.
p.000015: As yet, however, we are unable to perform a global analysis of the epigenome26, except for spe- cific indications
p.000015: (cancers, some childhood pathologies). But possibly in the future such analysis could help to define — more precisely
p.000015: than with only a genetic sequence — susceptibility via, for example, indicators of an environmental risk of
p.000015: exposure (nutrition, climate, toxic substances, etc.) and therefore identify with greater certainty high-risk
p.000015: individuals who might benefit from preventive measures.
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p.000015: these are the individual bases of a DNA sequence or of an RNA sequence regulating gene expression, but tomorrow they
p.000015: will be the epigenetic modifications or metabo-
p.000015:
p.000015:
p.000015: 25 Well documented in plants, transgenerational epigenetic-related transmission of characteristics is the subject of
p.000015: scientific debate for mammals, and for humans in particular. A recent review of the subject was published under the
p.000015: title: “Nongenetic inheritance and transgenerational epigenetics”. Szyf M. 2015. Trends Mol Med, ; 2 : 134-144.
p.000015: 26 ‘Methylome’ analysis (identification of all the CpG sequences of DNA carrying a methyl group) is already in
p.000015: clinical use.
p.000015:
p.000015:
p.000015:
p.000015:
p.000015: Opinion N° 124
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p.000015:
p.000016: 16
p.000016:
p.000016: lites or proteins in a blood or urine sample27. We could therefore avail ourselves of a set of pa- rameters
p.000016: characterising the global physiological status of an individual at a given point in time in a given environment.
p.000016: Phenotypes differ from genetic data in that they reflect the actual status of an individual (as op- posed to what can
p.000016: be deduced from a gene sequence) and that they are dynamic (varying with time and the environment) and therefore
p.000016: reversible, whereas genomes are relatively ‘immuta-
p.000016: ble’ throughout life.
p.000016:
p.000016: To the above can be associated ‘microbiome’ se- quencing, all the genomes of the multiple bacteria colonising our
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p.000016: By analogy, the determination of the proteins expressed in a sample is called the proteome. The microbiome designates
p.000016: the determination of the DNA sequence of all the bacteria residing in a stool sam- ple (therefore in the gut). The
p.000016: metabolome refers to the full set of small molecules synthesised by an or- ganism. The metabolome provides, at a
p.000016: given time, an image of the metabolic status of an individual which is the result of both genetic and
p.000016: environmental contributions. Such a profile could very well be used in a personalised medicine approach or for
p.000016: purposes of public health.
p.000016:
p.000016:
p.000016:
p.000016:
p.000016: Opinion N° 124
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p.000016:
p.000017: 17
p.000017:
p.000017: themselves instead of their per se genetic cause alone28.
p.000017: But, along the same lines as genetic testing, they may be reason to leave aside a medical strategy responding to a
p.000017: symptom (a disease) in favour of anticipation of a medical risk (predicted by the genome), the monitoring of the
p.000017: emergence of its clinical expression (phenotypic analysis) and the offer (which could even become coercive) of public
p.000017: health measures.
p.000017: 5- What data and what risks?
p.000017:
p.000017: How do the new sequencing techniques modify the issues raised by genetic studies? What new data and new risks do they
p.000017: harbour?
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p.000017: sequence of 20 to 25,000 genes coding for proteins. The function of the majority of the three billion bases making up
p.000017: the genome is still largely unknown.
p.000017: 32 Sequence acquisition: the DNA of cells (blood cells in particular) is purified and cut into small frag- ments.
p.000017: The next step, using different methods depending on the machine used and the company con- cerned, is to
p.000017: determine automatically the sequence of these small DNA fragments. The major technical advance in the last few
p.000017: years is that it is now possible to analyse simultaneously the sequence of millions of fragments (massive parallel
p.000017: sequencing) belonging to the genomes of several individuals (each individu-
p.000017:
p.000017:
p.000017:
p.000017: Opinion N° 124
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p.000017:
p.000018: 18
p.000018:
p.000018: tation are complex and costly procedures and therefore rarely performed for full genomes. For diagnostic purposes,
p.000018: only a few dozen or hundreds of genes are analysed: those which are sus- pected of implication and searched out for
p.000018: that reason. However, much of this ‘raw’ sequence acquisition data will most likely be saved33. It can be annotated
p.000018: again at any time and its inter- pretation could progress to keep abreast with scientific breakthroughs34. This
p.000018: research is linked to the clinical approach and guarantees the dynamic analysis and interpretation of the entire ge-
p.000018: nome or exome. There is a high probability of identifying variants which are not linked to the disease giving rise
p.000018: to the genetic study, and their interpretation may be uncertain. The man- agement of these ‘incidental or
p.000018: secondary findings’35 is one of the major ethical issues raised by these new technologies.
p.000018: This incidental findings issue, as also that of the evolutionary nature of scientific knowledge, are particularly
p.000018: worthy of attention in the case of prenatal studies now that geneticists have this new capacity of being
p.000018: able to sequence the genome of a foetus from a sample of maternal blood. This issue was considered by CCNE in its
p.000018: Opinion N° 120.
p.000018: b- The uncertainties of sequencing: the challenges of quality and interpretation.
p.000018:
p.000018: Very high throughput genome (or exome) sequencing seeks to identify variants whose causal link with the
p.000018: expression of a disease (the variant will, or will not, have pathological consequenc- es) can be predicted. Certainty
p.000018: is therefore essential and this is currently the main limitation, for at least two reasons:
p.000018:
p.000018: al being recognised by a specific bar code) which reduces considerably the time needed (and the cost) of sequencing.
p.000018: Assembly: this phase consists in aligning small segments of raw sequences to determine their succession and reconstruct
p.000018: the individual’s genome. You could compare this phase with putting together a puzzle. The work is done by computers.
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p.000018: analyses that have been performed on the gene concerned (size of patient cohorts) and therefore on how
p.000018: much knowledge exists on their significant association with a disease.
p.000018: 35 The expression ‘incidental data’ which continues to be the subject of scientific debate, should only be used for
p.000018: truly fortuitous discoveries, while the expression ‘secondary findings’ should be used for deliber- ate research for
p.000018: pathogenic variants which do not correspond to the primary indication of the genetic test- ing but the understanding of
p.000018: which is conducive to treatment or preventive measures (Hehir-Kwa JY et al. Towards a European consensus for reporting
p.000018: incidental findings during clinical NGS testing. 2015. Eur J Hum Genet;23(12):1601-6).
p.000018:
p.000018:
p.000018:
p.000018: Opinion N° 124
p.000018:
p.000018:
p.000019: 19
p.000019:
p.000019: • While the acquisition of the ‘raw’ DNA sequence of a genome does not take very long and is relatively cheap, it
p.000019: contains a large number of errors; a reasonably good quality sequence will have to be verified about thirty times and
p.000019: if very high quality is required (as with a clin- ical quality exome), the number of verifications will be in the
p.000019: region of one or two hundred times36.There are hundreds or thousands of individual variants in each genome; how then
p.000019: can they be made significant in terms of health and disease? Defining the absence of conse- quence of a variant or
p.000019: its statistical association relationship, or even its link of causality with a future risk or phenotype (a
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p.000019: of which depends on the existence of a single gene mutation. Frequently, expressivity and pene- trance of the disease
p.000019: depend on other genetic factors or other factors besides this simple mutation.
p.000019: 39 This participation is often described in research as a partnership.
p.000019: 40 dbGaP, The database of Genotypes and Phenotypes (dbGaP) was developed by the NIH (USA) to archive and distribute
p.000019: the results genotype-phenotype correlation financed by NIH. The database is managed by NIH; the 1000
p.000019: Genomes Project has a database open to public access.
p.000019: (http://www.1000genomes.org/data- #DataAccess)
p.000019:
p.000019:
p.000019:
p.000019: Opinion N° 124
p.000019:
p.000019:
p.000020: 20
p.000020:
p.000020: culty of data protection41. The risk seems even greater in the very buoyant field of data sharing over the internet
p.000020: and social networks. Protecting personal and public data versus restricted ac- cess to databases which are no longer
p.000020: confined to national frontiers is currently one of the main areas of ethical issues to be considered42, with certain
p.000020: currents of opinion to the effect that “… the ethics norms that govern clinical research are not suited for the wide
p.000020: range of data privacy and consent issues in today's social networks and bioinformatics systems” 43.
p.000020: Reflection on the management of large bodies of data (‘big data’) is increasingly conspicuous on the international
p.000020: scene. The Council of Europe, for example, is reflecting on ethical issues arising out of ‘big data’ connected
p.000020: medicine, this subject extending far beyond the confines of genetic data derived from very high throughput human DNA
p.000020: sequencing. One of the characteristics of this trend is that the main operators are big concerns (Google, Amazon,
...
p.000020: small number of corporations who are equipped for the task, thus creating both a con- centration of power nearing
p.000020: seemingly hegemonic proportions and a form of appropriation of this data which is in fact in contradiction with the
p.000020: basis and the justification for this analysis of massive quantities of health related data, i.e. the unrestricted
p.000020: sharing of information and its free access. This is very central to CCNE’s concerns and it will be the subject of
p.000020: further independent study by the Committee on the ethical issues arising out of using such data, beyond the genetic
p.000020: issues which are the subject of this Opinion.
p.000020: 6- Fields of application
p.000020:
p.000020: Genetic studies are generally undertaken for medical purposes and, less frequently, outside the scope of medical use
p.000020: for forensic or criminological pursuits (DNA forensics) or, more recently, as part of what goes under the name of
p.000020: ‘recreational genetics’. In a medical context, genetic analy- sis seeks to identify the cause of a disease or the
p.000020: genetic profile to which it is attached, the causal link not always being easy to find. In other contexts, it is the
p.000020: individual’s identity, or history or origin which is the subject of genomic research. DNA being heredity’s
p.000020: major carrier, DNA se- quencing provides particular information (biological) relating to family
p.000020: history (paterni- ty/filiation/genealogy) and geography (geographical origins, ancestors, migration, etc.).
p.000020: a- Medical approach
p.000020:
p.000020: 41 In certain cases, for instance The Personal Genome Project (PGP), participants accept the risk of identifi- cation
p.000020: through genetic and personal data becoming public (http://www.
p.000020: person- algenomes.org/data/PGP12.05/)
p.000020: 42 “Use it or lose it” as an alternative approach to protect genetic privacy in personalized medicine. Wagner JK,
p.000020: Mozersky JT, Myeritz RE. 2014. Urol. Oncol.; 32: 98-101.
p.000020: 43 Knoppers BM. “Consent to personal genomics and privacy”. 2010. EMBO rep.; 11: 416-419.
p.000020:
p.000020:
p.000020:
p.000020: Opinion N° 124
p.000020:
p.000020:
p.000021: 21
p.000021:
p.000021: Moving from genetics focusing on disease to genetics focusing on health, defined as being a complete
p.000021: state of physical, mental and social well-being44, places human genomics in a new con- text. This is no longer a
p.000021: simple change in scale, albeit a major change in scale, and it leads to a not unreasonable expectation of medicine
p.000021: targeting the genome, or ‘precision’ medicine, still frequently and loosely designated by the name ‘personalised
p.000021: medicine’.
p.000021: There must be a clear distinction between constitutional genetic modifications, those which were present in
p.000021: the one-celled egg — or zygote — and will therefore be found in every cell of the body, and ‘somatic’ modifications
...
p.000021: responses, to organise possible preventive measures. Clinical validity and usefulness, in particular for systematic
p.000021: studies, are debated on a case-by-case basis and may raise ethical issues; conservation of sequences and their possible
p.000021: re-examination throughout the subject’s life can have a serious impact on public health, particularly if a large number
p.000021: of people can be ‘genetically’ monitored. Some thinkers foresee a time when every human being’s genome will be
p.000021: sequenced at birth so as to prepare for a more ‘informed’ treatment of the individual’s fu- ture health. As regards
p.000021: prenatal diagnosis, CCNE has already discussed the development of so-called non invasive tests (Opinion N° 120)
p.000021: and observed that issues of the same nature arise with pre-conceptional analysis (see below, paragraph III-2-5).
p.000021: • There is also another group of constitutional variations: that of complex multifactorial dis- eases
p.000021: (metabolic diseases, including diabetes, cancers45, cardiovascular diseases, psychiatric
p.000021:
p.000021:
p.000021: 44 The 1946 definition of health by WHO, see infra paragraph IV-1.3.
p.000021: 45 Many susceptibility-to-cancer factors have been identified through the use of association studies. The added risk
p.000021: contributed by these factors taken individually is small. Interactions between factors are large- ly unknown. For
p.000021: the time being, susceptibility factors do not have any clinical application. A distinction must be made between
p.000021: the susceptibility factors and genetic factors associated with a high cancer risk
p.000021:
p.000021:
p.000021:
p.000021: Opinion N° 124
p.000021:
p.000021:
p.000022: 22
p.000022:
p.000022: disorders, etc.) for which multiple genetic variations increase the risk of disease onset alt- hough they
p.000022: are neither individually necessary nor sufficient, the actual clinical expression of the disease being the consequence
p.000022: of environmental factors, including the lifestyle of the in- dividual concerned. In this context, uncertainty is
p.000022: the rule and the interpretation of these variations — of which there are a large number — is all the more risky
p.000022: as one moves away from a given clinical context. In such circumstances we may in the future be able to discuss
p.000022: so-called preventive medicine, or the application of ‘systemic biology’.
p.000022: So-called ‘somatic’ modifications on the other hand, are specific to a tissue, absent from gametes and not
...
p.000022: single base (letter) at a given point on the DNA. Frequent SNP occurrence detection is very widely in use at present.
p.000022: 47 “Knowing that my personal risk of contracting diabetes is 20, 30 or 40% higher than average — mean- ing that my
p.000022: risk in absolute terms is 1.2 to 1.4% instead of the usual 1% — is that really what you can call an essential item of
p.000022: information which is likely to make we want to adopt a healthier diet?” (B Jordan, MS 2010). This market is evaluated
p.000022: as worth $250 million in 2018.
p.000022: 48 23andMe have recently sold their genetic database (Parkinson’s disease) to Genentech for $60 million.
p.000022:
p.000022:
p.000022:
p.000022: Opinion N° 124
p.000022:
p.000022:
p.000023: 23
p.000023:
p.000023: b- Non medical use
p.000023:
p.000023: In parallel with highly regulated genetic studies when they are part of a medical activity, there is open access
p.000023: genetic testing (DTC, direct to consumer) which is flourishing alongside a number of non medical applications in a
p.000023: totally unregulated sector, obeying the laws of ‘electronic com- merce’, making use of new information
p.000023: technology via the Internet49. This trend, particularly vigorous in the United States, follows the current
p.000023: thinking regarding the individual empower- ment without interference from the medical professions and without
p.000023: community support. The main motivation in the United States for those paying for such testing is to know
...
p.000023:
p.000023: The late 19th century theories on ‘born criminals’ have trig- gered controversy and debate between studies claiming to
p.000023: support the notion of innate behaviour and those giving preference to psychological and sociological crime
p.000023: factors. The studies favouring innateness have served to support ‘genetic defence’ theories for
p.000023: criminal accountability or screening programmes for a potential ‘crime gene’ which apart from having
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
...
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
p.000023: genealogical research and claim respectively a hundred and twenty thousand and six hundred thousand clients”. (B
p.000023: Jordan. 2013. Med Sci (Paris); 29 : 1167–1170). The market is estimated as being worth US$250 million by 2018.
p.000023: 50 As regards criminal investigation, based on genetic material found on the crime scene, information can be extracted
p.000023: on the physical appearance of the unknown person (sex, eye, hair and skin colour, etc.). The
p.000023:
p.000023:
p.000023:
p.000023: Opinion N° 124
p.000023:
p.000023:
p.000024: 24
p.000024:
p.000024: Nor should it be forgotten that the advent of new sequencing techniques could modify the scope of behavioural genetics,
p.000024: particularly as regards criminal investigation (see box).
p.000024:
p.000024: B- The legal context51
p.000024:
p.000024: At this time, two categories of rules apply:
p.000024:
p.000024: 1° French rules, most of them stemming from the 1994 bioethics laws52 on the principle of limit- ing the use of
p.000024: genetic tests to medical and scientific research53 purposes alone and on the organ- isation of the identification of
p.000024: genetic diseases for predictive54 purposes as well as for antena- tal55 diagnosis, but also from law n° 2002-303
p.000024: dated March 4, 2002 which recognised the princi- ple of non discrimination based on genetic characteristics et
...
p.000024: 57 Ratified by France in 2012 (Article 1 of law n° 2011-814 dated July 7, 2011 on bioethics: “is authorised the
p.000024: ratification of the Council of Europe Convention for the Protection of Human Rights and the dignity of the human being
p.000024: with regard to the applications of biology and medicine: Convention on Human Rights and Biomedicine, signed in Oviedo
p.000024: on April 4, 1997 “ and Decree n° 2012-855 of July 5, 2012) and, therefore ap- plicable in French law, by virtue of
p.000024: article 55 of the Constitution of October 4, 1958: “duly ratified or ap- proved treaties or agreements once published
p.000024: have authority superior to that of laws ...”.
p.000024:
p.000024:
p.000024:
p.000024: Opinion N° 124
p.000024:
p.000024:
p.000025: 25
p.000025:
p.000025: standards for the protection of the dignity of the human person in relation to biomedical scienc- es”58.
p.000025: To understand their significance, the mutual influence on each other of these two categories of rules must be kept in
p.000025: mind. On the one hand, the adoption in 1994 of the laws on bioethics stat- ing “the general principles underpinning
p.000025: the legal status of the human body in order to ensure the dignity of human beings and the protection of the
p.000025: integrity of the genetic heritage59, and thereby of the human species” and setting out “a legal
...
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
p.000025: health care professionals”.
p.000025: 62 Articles 225-1 to 225-4 of the Code pénal.
p.000025: 63 The draft law also extended the prohibition of discrimination in recruitment, sanctions and dismissals as laid out
p.000025: in article L.122-45 of the Code du Travail (now Article L. 1132-1) to discrimination based on genetic characteristics.
p.000025: 64 A. Claeys, JO Débats AN 3 Oct. 2001, 5432: Amendment n°99, reproducing Article 1 of the draft law on bioethics. He
p.000025: was referring to the European Convention on Human Rights, without explicitly saying so.
p.000025:
p.000025:
p.000025:
p.000025:
p.000025: Opinion N° 124
p.000025:
p.000025:
p.000026: 26
p.000026:
p.000026: Finally, should be added to the above the rules set out by the Charter of Fundamental Rights of the European Union
p.000026: proclaimed on 7 December 2000 and later made binding by integration into the Treaty of Lisbon. The consecration of
p.000026: the Charter of Fundamental Rights expresses the Eu- ropean Union’s determination to ensure respect for these
p.000026: rights which thereafter became en- shrined in Union law “in accordance with the general principles common to the
p.000026: laws of the Mem- ber States”. Under the heading of “Protection of personal data, Article 8 states that “1. Everyone
...
p.000026: particularities” and enters the patient into a narrative that is not limited to that individual’s own person, but
p.000026: includes his or her ancestors and descendants. In this respect, a person’s autonomy may be destabilised insofar as the
p.000026: sharing of personal in- formation may become an obligation and new items of information may need to be taken into
p.000026:
p.000026: 65 Charter of Fundamental Rights of the European Union, http://www.europarl.europa.eu/charter/pdf/text_fr.pdf
p.000026: 66 « La médecine personnalisée : un facteur de refonte des lois bioéthiques ? », Sophie Paricard
p.000026: Université Toulouse 1- Capitole Institut de droit privé CUFR J - F Champollion, Albi.
p.000026:
p.000026:
p.000026:
p.000026: Opinion N° 124
p.000026:
p.000026:
p.000027: 27
p.000027:
p.000027: consideration to make future personal decisions regarding behaviour and lifestyle, despite doubts about the
p.000027: information and the difficulty of its interpretation.
p.000027: It is true that, despite this uncertainty and the difficulty in interpreting genetic data, the unvary- ing nature of
p.000027: people’s DNA sequence throughout their whole life may give them the impression that such a sequence represents a firm
p.000027: rock foundation for their personality, even though it is equally true that human beings cannot be reduced to their sole
p.000027: biology and even less to their ge- netic makeup. And yet, as part of a person’s self, sharing their genetic portion
p.000027: can be, and is in fact claimed as a right, at a time when social networks on the Internet are significantly modifying
p.000027: the boundaries of ‘privacy’ 67, so that what certain currents of opinion describe as ‘recreational genomics’,
p.000027: essentially representing access to the discovery of one’s origins, family ties and gene- alogy, is publicly available
p.000027: on forums; in this way, the notion of ‘family reunion’ seems close, in this respect, to that of ‘friend’ on certain
p.000027: social networks.
p.000027: Nevertheless, the rigorous parting of ways between recreational and medical aspects is not so easy to order. There is
p.000027: a degree of ambivalence insofar as recreational activities may be very rapidly challenged by more or less
p.000027: significant genetic discoveries, with varying measures of medical predictive potential.
p.000027: 2- Increasing merchandisation of technology
...
p.000027: half a billion for follow-up (detection of residual disease). Non invasive prenatal diagnosis adds up to one billion,
p.000027: preimplantation diagnosis to a little less, with paediatric diagnosis profiling, HLA typing and preconception diagnosis
p.000027: following far behind. These values seem to be very high, but they are sales evaluated from Illumina’s viewpoint,
p.000027: including the sales of machines added to the supply of reagents and certain in-house testing. Another estimate by
p.000027: DeciBio is for a much smaller amount, about one billion dollars in all, with oncology and non in-
p.000027: 67 The Facebook network, for example, is associated with the largest global database of faces, to which its
p.000027: participants contribute although they are not always fully aware that they are doing so.
p.000027:
p.000027:
p.000027:
p.000027:
p.000027: Opinion N° 124
p.000027:
p.000027:
p.000028: 28
p.000028:
p.000028: vasive prenatal diagnosis as the main resources. There is a large margin of uncertainty.”68
p.000028:
p.000028: 3- Archiving and merchandising individual data
p.000028:
p.000028: The challenge of archiving and bioinformatics posed by the sequencing technologies also has an economic dimension.
p.000028: Bioinformatics burst into biology and medicine and this was yet another very significant mutation. Engineers and
p.000028: information technology experts have had to hone their technical skills since the true challenge is the interpretation,
p.000028: as much as the acquisition, of se- quencing data based on ever more sophisticated and powerful algorithms. It is for
p.000028: this reason that new players in this field, who are specialists in the computerised analysis of large quantities of
...
p.000028: large-scale dissemination of exploitable research
p.000028:
p.000028: 68 Jordan B. In médecine/sciences, Chroniques génomiques May 2014
p.000028: 69 Grossman G, Helpman E. 1991. Innovation and growth in the global economy, Cambridge (Mass.), MIT
p.000028: Press.
p.000028: 70 Orsi F et Moatti JP. « D'un droit de propriété intellectuelle sur le vivant aux firmes de génomique : vers une
p.000028: marchandisation de la connaissance scientifique sur le génome humain », in Economie & prévision, 2001/4 no 150, p.
p.000028: 123-138. Cf. Cassier M. « L'expansion du capitalisme dans le domaine du vivant : droits de pro- priété intellectuelle
p.000028: et marchés de la science, de la matière biologique et de la santé », in Actuel Marx, 2003/2 n° 34, p. 63-80.
p.000028:
p.000028:
p.000028:
p.000028: Opinion N° 124
p.000028:
p.000028:
p.000029: 29
p.000029:
p.000029: results71.
p.000029:
p.000029: 5- Repercussions on medical management
p.000029:
p.000029: It is symptomatic that in our country, where public expenditure for health is among the world’s highest, less than 3%
p.000029: of it is devoted to the prevention of disease. In this context, is there any sense in highlighting the predictive
p.000029: applications of human DNA sequencing?
p.000029: If it is no longer questionable, or even becomes fully established, that a given mutation is associ- ated with a
p.000029: significant risk of developing a given disease, should we wait for the clinical diagno- sis to be formulated or should
...
p.000029: is hoped that this block of information could establish a connection between
p.000029:
p.000029: 71 Cook-Deegan R. and Dedeurwaerdere T. « Biens communs scientifiques » et recherche en sciences de la vie :
p.000029: structure, fonction et valeur de l'accès à la diversité génétique », in Revue internationale des sciences sociales ,
p.000029: 2006/2 n° 188, p. 317-338.
p.000029: 72 Such constraints are unlikely to be acceptable in a country like France, in which over 30% of its citizens smoke
p.000029: (32.4%), where one smoker out of two will die of a tobacco-related illness and where quite a num- ber of patients do
p.000029: not comply with medical prescription.
p.000029:
p.000029:
p.000029:
p.000029:
p.000029: Opinion N° 124
p.000029:
p.000029:
p.000030: 30
p.000030:
p.000030: DNA sequences (the genotype) and the phenotype, and therefore between an individual genome and the dynamics of its
p.000030: expression so as, in particular, to gain a better understanding of the transition from good health to bad,
p.000030: and so improve the medical management73 of poor health.
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030:
p.000030: 73 Chen R. (2012). Personal Omics profiling reveals dynamic molecular and medical phenotypes. Cell; 148: 1293-1307.
p.000030:
p.000030:
p.000030:
p.000030: Opinion N° 124
p.000030:
p.000030:
p.000031: 31
p.000031:
p.000031: III / The future of genetic information74 in an era of very high throughput DNA se- quencing
p.000031: At this time when CCNE is reopening the ethical debate on the medical and societal implications of very high throughput
p.000031: human DNA sequencing — a debate which is situated at the centre of all the genetic scientific and technical
p.000031: developments and which was already the subject of its Opin- ion N° 120 — the point to be made from the outset is
p.000031: that there is a certain amount of inter- communication between information and the exploitation of storable and
p.000031: usable DNA sequenc- ing data. This is probably a major ethical upheaval: from the start, from the genetic data
p.000031: acquisi- tion phase onwards, individuals are at the heart of this process of implication and participation although
p.000031: they may not necessarily be aware of it.
...
p.000031:
p.000031:
p.000031: 74 Such information, the outcome of various genetic studies, in particular in the framework of research ac- tivities,
p.000031: corresponds to a highly mobile scientific, medical and social object as it keeps pace with the rapid- ly progressing
p.000031: genetic sciences.
p.000031: 75 O’Rawe JA, Ferson S, Lyon GJ. Accounting for uncertainty in DNA sequencing data. Trends in
p.000031: Genetics. 2015; 31: 61-66.
p.000031: 76 Felipe Aguirre F., Sallak M., Schön W. Incertitudes aléatoires et épistémiques, comment les distinguer et les
p.000031: manipuler dans les études de fiabilité ? 10ème Congrès International Pluridisciplinaire en Qualité et Sûreté de
p.000031: Fonctionnement: QUALITA 2013
p.000031:
p.000031:
p.000031:
p.000031: Opinion N° 124
p.000031:
p.000031:
p.000032: 32
p.000032:
p.000032: meaning that the knowledge available is insufficient to dispel it; or that they can or must have access to a
p.000032: significant numerical representation of that uncertainty77.
p.000032: Two attitudes in the presence of uncertainty have been defined. On the one hand, consent to transcend
p.000032: uncertainty, epistemic uncertainty, explaining uncertainty as a temporary incompe- tence, as a temporary stage
p.000032: of knowledge. On the other hand, an attitude tolerating uncertainty, ontological uncertainty, explaining definitive
p.000032: uncertainty by the irreducible unpredictability of reality78.
p.000032: To try and reconcile mathematical and sociological theory, uncertainty can be made available in various versions ranked
...
p.000032: sociales, 2002/1 n° 171, p. 43-51.
p.000032: 78 Weil-Dubuc PL. « Dépasser l'incertitude » Le pari hasardeux de la médecine prédictive, in Esprit, 2014/7 July, p.
p.000032: 20-29.
p.000032: 79 Chevassus-au-Louis B. L’analyse des risques - L’expert, le décideur et le citoyen, Quae éditions, 2007.
p.000032: 80 Henry C. « Incertitude scientifique et incertitude fabriquée » D'une approche rationnelle aux dénis
p.000032: de science, in Revue économique, 2013/4 Vol. 64, p. 589-598.
p.000032: 81 Bourret P. et Rabeharisoa V. « Décision et jugement médicaux en situation de forte incertitude : l'exemple de deux
p.000032: pratiques cliniques à l'épreuve de la génétique », in Sciences sociales et santé, 2008/1 Vol. 26, p. 33- 66.
p.000032:
p.000032:
p.000032:
p.000032: Opinion N° 124
p.000032:
p.000032:
p.000033: 33
p.000033:
p.000033: Genetic data produces information of different kinds and pertinence. In some cases, the infor- mation was wanted.
p.000033: It is to obtain it that the test was prescribed or requested. Some infor- mation is pertinent but was not
p.000033: asked for (incidental and/or secondary). There is information which is available but for which pertinence and
p.000033: clinical usefulness have not yet been established although that may happen in the future. High throughput screening
p.000033: which reads an entire ge- nome will necessarily produce a mass of non targeted data. Furthermore, some of this data
p.000033: is not strictly individual. It affects families and can therefore also be of use to the patient’s family. We should
...
p.000033: and classified and that any related issues of consent be identified. Patients may then consent to one part without
p.000033: necessarily being obliged to consent to another. Full analysis of a genome requires justification for its
p.000033: necessity (need to solve a clinical problem) and its propor- tionality (balance between advantages and
p.000033: drawbacks for a patient). When full sequencing is authorised, strict protocol must guide deci- sions to be
p.000033: taken regarding unsolicited discover- ies83.
p.000033: The Presidential Commission for the Study of Bi-
p.000033: "Genetics and Medicine: from Prediction to Prevention"
p.000033: CCNE Opinion N° 46 - 30 October 1995
p.000033:
p.000033: Genetic tests give information on the identity of persons and emphasise their diversity which con-
p.000033: tributes to the rich nature of humankind. To use such information for the purpose of selection or of
p.000033: discrimination in social or economic terms, be that in the realm of public health policies, employment, or insurance
p.000033: systems, would be crossing a boundary of the most extreme gravity and would question those principles of
p.000033: equality of rights, dignity and sol- idarity for all human beings upon which society as we know it is based.
p.000033: The CCNE insists on the neces- sity of observing those fundamental principles whatever aims may be
...
p.000033: shared decision process with patients regarding the confines within which ge- netic testing results would be
p.000033: communicated and the procedures to be observed in the event of incidental findings. Physicians must respect a
p.000033: patient’s preference not to be made aware of inci- dental or secondary findings, in coherence with their professional
p.000033: duty to assist.
p.000033:
p.000033:
p.000033:
p.000033:
p.000033:
p.000033:
p.000033:
p.000033: 82 Gargiulo M., Durr A. « Anticiper le handicap. Les risques psychologiques des tests génétiques », in Esprit, 2014/7
p.000033: Juillet, p. 52-65.
p.000033: 83 Cambon-Thomsen A., « Chapitre 8. Acteurs et outils de la prédiction génétique : l'éthique au cœur de la
p.000033: gouvernance », in Journal International de Bioéthique, 2014/2 Vol. 25, p. 159-168.
p.000033:
p.000033:
p.000033:
p.000033: Opinion N° 124
p.000033:
p.000033:
p.000034: 34
p.000034:
p.000034: B- The genome: where personal privacy, the heritage and common property converge
p.000034:
p.000034: It is now clear that when the bulk of the data from DNA sequencing is available — not just the status of a few
p.000034: targeted genes — an individual’s identity can be discovered. Despite a certain degree of genomic plasticity
p.000034: (somatic mutations detectable during carcinogenesis, for example) such data is largely invariant, so that it can be
p.000034: used in forensic medicine. It does not, however, determine a person. Rather it represents a set of possibilities of
p.000034: being, unique to an individual, and as such relates to that individual’s private life as much as to his or her
...
p.000034: intrinsic significance. There has to be the possibility of combining them with medical or non medical phenotypic
p.000034: data. This is where the threat to anonymity is the
p.000034:
p.000034: 84 “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
p.000035: link between such information and that derived from genomic analysis, which is not in essence anonymous, is obviously a
p.000035: risk to the integrity of anonymity. It would not even be unthinkable to suppose that a link between such information
p.000035: and the exist- ence of a biological sample stored in a biobank86, whose DNA could be sequenced at any time87, is also a
...
p.000035: Committee’s presentation of the rules and refer- ences was the following: “In medical genetics, some of the ordinary
p.000035: rules of medical ethics also ap- ply. But in view of the specific nature of this domain, it is immediately clear that
p.000035: there are particu- lar demands in its application, for instance as regards conventional rules of beneficial behaviour,
p.000035: autonomy of the patient (consent and confidentiality), and justice (fair distribution of risks and
p.000035: benefits, costs and advantages).”
p.000035:
p.000035:
p.000035: 86 CCNE, Opinion N° 77: Ethical Issues Raised by Collections of Biological Material and Associated Infor- mation Data:
p.000035: “Biobanks, “Biolibraries” (2003)
p.000035: 87 This raises the issue of the nature and scope of further consent and the choice which it should make available,
p.000035: of requesting or not the destruction of DNA once the test prescribed is done.
p.000035: 88 This matter is at the heart of ethical concerns regarding the merchandising of data files and biological samples,
p.000035: as practised by 23andMe, for example (vide supra).
p.000035: 89 CCNE, Opinion N°46 (1995) on “Genetics and Medicine: from Prediction to Prevention”.
p.000035:
p.000035:
p.000035:
p.000035: Opinion N° 124
p.000035:
p.000035:
p.000036: 36
p.000036:
p.000036: In its Opinion N° 120, CCNE underlined that in the field of prenatal genetic tests, “It would seem essential therefore,
p.000036: to muster up and comply with the conditions enabling couples to benefit from true freedom of choice and take an
p.000036: independent and informed decision. As a complement, collec- tive efforts to engage in research as well as provide
p.000036: assistance, counselling and care must continue so that the systematic offer to diagnose […] in no way suggests to
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
...
p.000036: epilepsy, may be due to the effects of several hundred genes known and classified by science, but still untested in our
p.000036: cur- rent health care system. 91
p.000036: And yet, rather like a person looking for missing keys under a good light rather than where they were actually mislaid,
p.000036: it is easier for us to investigate genomic areas and genes for which we al- ready know the predictive nature of their
p.000036: mutations and to propose that they be systematically
p.000036:
p.000036:
p.000036: 90 Report written at the request of the Agence de Biomédecine (Biomedicine Agency) and the Institut Na- tional du
p.000036: Cancer (National Cancer Institute) 2007
p.000036: 91 « La génétique est-elle inhumaine ?», in Esprit, 2014/7 Juillet, p. 66-74.
p.000036:
p.000036:
p.000036:
p.000036: Opinion N° 124
p.000036:
p.000036:
p.000037: 37
p.000037:
p.000037: analysed, as is the case in the prenatal context92. This is screening which, unlike diagnosis, has a demographic and
p.000037: collective dimension and is a public health concern.
p.000037: Today, neonatal screening is systematic for five diseases: cystic fibrosis, phenylketonuria, hypo- thyroidism,
p.000037: congenital adrenal hyperplasia and sickle-cell anaemia (for at-risk groups). This is biological — not genetic —
p.000037: screening (genetic screening is now available for cystic fibrosis), whose sole objective is the direct and
p.000037: immediate benefit of a child suffering from one of these conditions; its justification is that it affords the
p.000037: possibility of providing early specific treatment or appropriate management.
p.000037: Should screening become genetic or pangenomic, as is already under consideration in the United States for 56 genes, it
p.000037: would raise the issue of the child’s or future adult’s freedom. This was the subject of CCNE’s Opinion N° 97,
p.000037: concerning the screening of heterozygote93 carriers of cystic fi- brosis: “CCNE recommends above all that the
p.000037: benefit of screening should have practical conse- quences for the person being screened. Although there seems
p.000037: to be such a benefit following sys- tematic neonatal screening for homozygous forms — a status heralding disease in
p.000037: the future — this should not pave the way for heterozygote screening. As screening for the disease (homozygote or
p.000037: double heterozygote status) leads necessarily to detecting healthy carriers (heterozygote sta- tus), CCNE
p.000037: recommends that systematic disclosure of the healthy carrier status of a new-born not be encouraged, since this is of
p.000037: no direct benefit to the child concerned. There is no cause to confine a human being to his or her genetic status with
...
p.000037: 92 Issues related to prenatal diagnosis and screening were examined in detail in two recent Opinions pub- lished by
p.000037: CCNE, N° 107 (2009) “On Ethical Issues in Connection with Antenatal Diagnosis: Prenatal Diagno- sis (PND) and
p.000037: Preimplantation Genetic Diagnosis (PGD)”, and N° 120 (2013) on “Ethical Issues in Connection with the Development of
p.000037: Foetal Genetic Testing on Maternal Blood”, to which the reader may wish to refer.
p.000037: 93 A heterozygous individual carries two different copies of a given gene for a particular trait, inherited from each
p.000037: parent. This is referred to as carrying two different alleles. In the case of a ‘recessive’ genetic disease, the
p.000037: heterozygous carrier of a mutation is referred to as a healthy carrier and does not express the disease.
p.000037:
p.000037:
p.000037:
p.000037:
p.000037: Opinion N° 124
p.000037:
p.000037:
p.000038: 38
p.000038:
p.000038: process when there is an index case in the family. It therefore concerns, a priori, couples in which
p.000038: both parents might be a heterozygous carrier of a predisposition for a severe pathology, but in the future it could
p.000038: extend to the population at large, i.e. to people who are not, a priori, at risk.
p.000038: This possibility was raised in Opinion N° 120: “The idea would be that before conceiving, or be- fore any plan to bear
p.000038: children, genetic tests would be
p.000038:
p.000038: initiated to check whether both members of the cou- ple are carriers for a harmful mutation of the same gene, one
p.000038: involved in a serious and currently incura- ble disease, giving rise to the option of therapeutic termination
p.000038: of the pregnancy. In this way, the iden- tification of risk would be shifted from the foetus to its future parents.
p.000038: This identification of couples at risk of giving birth to a child affected by a serious genetic
...
p.000038: there is a marked prevalence for certain inherited conditions. In 2004, Saudi Arabia made the test mandatory to
p.000038: detect the transmission of sickle-cell anaemia and thalassemia. In Cyprus and Sardinia, preconception
p.000038: screening for β thalassemia has had the effect of dramatically reducing the number of cases. In Israel, systematic
p.000038: screening is recommended for eight diseases for which heterozygous frequen- cy is greater than 1/60 and it
p.000038: performed free of charge for four of them (cystic fibrosis, Tay- Sachs disease, familial dysautonomia,
p.000038: thalassemia); it is generally encouraged for diseases whose heterozygous frequency is over 1/110 (Nieman Pick
p.000038: disease, glycogen storage diseases,
p.000038:
p.000038:
p.000038:
p.000038: Opinion N° 124
p.000038:
p.000038:
p.000039: 39
p.000039:
p.000039: etc.). In the United States, heterozygote screening is recommended for frequent conditions such as cystic fibrosis or
p.000039: spinal muscular atrophy, as well as Tay-Sachs in the Ashkenazi community.
p.000039: Preconception screening in targeted populations could well be considered progress94, particu- larly when such
p.000039: screening applies to incurable and exceptionally severe illness. And yet, this benevolence in favour of some
p.000039: people highlights a form of injustice for populations where preva- lence of a given disease is lower and does not
p.000039: therefore qualify for the free provision of screen- ing. It would seem, therefore, that the concern is more in terms
...
p.000039: universally accepted that acceptance of one’s fate is a key to true ex- ercise of one’s freedom since otherwise there
p.000039: is nothing more than wishful thinking. Nonetheless, the significance of the exercise of freedom by a person
p.000039: whose genetic predisposition leaves no choice but a life in the grip of terrible constraints or preventive
p.000039: mutilation or risk of incurable dis-
p.000039:
p.000039:
p.000039:
p.000039:
p.000039: 94 For some, this is even referred to as an ‘ethical imperative’.
p.000039: 95 Dondorp W. et al. (2014). ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical
p.000039: issues. Hum Reprod; 29:1353-1359.
p.000039:
p.000039:
p.000039:
p.000039: Opinion N° 124
p.000039:
p.000039:
p.000040: 40
p.000040:
p.000040: ease, is open to question” 96. At the time, predictive medicine was relatively powerless so that the comment seemed to
p.000040: apply mainly to personal autonomy and freedom.
p.000040: Predictive medicine starts with the calculation of the ‘risk surplus’ of contracting a disease com- pared to the
p.000040: population at large and is therefore based on a probabilistic type of analysis. It therefore situates a
p.000040: person beyond the individual level, within society. Is the individual ac- countable to society?
p.000040: Be they common ailments, relatively treatable such as diabetes, hypertension and cardiovascu- lar diseases, or
...
p.000040: accountability being reinforced by a private health care sys- tem which is not supportive of tobacco addiction,
p.000040: brings us to a situation midway between praise, or even reward, for virtuous behaviour and that of demonising or
p.000040: even penalising risky behaviour. In this way, there could be a blurring of the traditional distinction between a risk
p.000040: in- curred born of a not as yet controllable heredity and a risk chosen by the adoption of a lifestyle.
p.000040:
p.000040:
p.000040: 96 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000040: Prevention”.
p.000040: 97 Two articles are evidence of the (economic) interest the insurance industry is taking in connected de- vices for a
p.000040: personalised evaluation of health risks (« Notre enjeu est de rendre les assurés acteurs de leur propre santé avec
p.000040: un prérequis : proagir et prévenir » [CNP-assurances]) (“Our challenge is to get policy holders to take
p.000040: charge of their own health, with one proviso: they must be proactive and preventive). And they are already in use:
p.000040: http://www.lemonde.fr/economie/article/2015/06/15/les-objets-connectes-transforment-le-secteur-
p.000040: de-l-assurance_4654485_3234.html#
p.000040: http://www.insurancespeaker-solucom.fr/2014/02/objets-connectes-quels-enjeux-pour-lassurance-de- personnes/
p.000040: 98 Reynaudi M. et Sauneron S. (2012). Médecine prédictive : les balbutiements d’un concept aux enjeux con- sidérables,
p.000040: (Predictive medicine: the infancy of a concept with considerable implications). La note
p.000040: d’analyse, n° 289, Centre d’analyse stratégique.
p.000040:
p.000040:
p.000040:
p.000040: Opinion N° 124
p.000040:
p.000040:
p.000041: 41
p.000041:
p.000041: C. The genome at the boundary between information and consent
p.000041:
p.000041: As mentioned above, very high throughput DNA sequencing analysis is situated at the dividing line between clinical and
p.000041: research activities. In differing degrees, modern societies have at some point considered the issue of the frontier
p.000041: between research and clinical practice. Ethical con- cerns regarding certain research practices, clinical in
p.000041: particular, with human subjects, led to turning this frontier into an impassable barrier: research — which may
p.000041: entail for an individual some form of risk without any personal benefit, for the greater good of the community — has to
...
p.000041: and, more importantly, the information it will be able to provide in the future.
p.000041: The first and main challenge of genetic information is certainly due to the evolutionary nature of the body of
p.000041: knowledge provided by very high throughput sequencing since the time of the earli-
p.000041:
p.000041:
p.000041: 99 Kass NE, et al. (2013). The Research-Treatment Distinction: A Problematic Approach for Determining Which
p.000041: Activities Should Have Ethical Oversight. Ethical Oversight of Learning Health Care Systems, Has- tings Center Report
p.000041: Special Report; 43: S4-S15.
p.000041: 100 Doolittle WF et al. (2013). Sixty years of genome biology. Genome Biology; 14:113-120.
p.000041:
p.000041:
p.000041:
p.000041: Opinion N° 124
p.000041:
p.000041:
p.000042: 42
p.000042:
p.000042: est decoding of human DNA sequences, barely more than ten years ago. This is true of the knowledge
p.000042: itself and of its applications, medical applications in particular. Information explora- tion is now an integral part
p.000042: of progress in genomics101.
p.000042: Another challenge presented by this genetic information is that it is expected to be a normative basis for health and
p.000042: behaviour although there is not anywhere in the world a human community which voluntarily defines or accepts such a
p.000042: norm.
p.000042: Some insignificant variants and other more predictive ones will be identified, in particular based on the analysis of
...
p.000042: genetic, environmental and health data supplied by a global net- work of volunteers (http://www.personalgenomes.org).
p.000042: The terms of reference of these studies raise questions in our minds regarding the implicit choices from
p.000042: which they originate. For example, one might wonder about the motive for the
p.000042:
p.000042:
p.000042: 101 Gallezot Gabriel, « Exploration informationnelle et construction de connaissances en génomique », in
p.000042: Les Cahiers du numérique, 2002/3 Vol. 3, p. 121-136.
p.000042:
p.000042:
p.000042:
p.000042: Opinion N° 124
p.000042:
p.000042:
p.000043: 43
p.000043:
p.000043: constitution of a national cohort like the one in the Faroe Islands and about the biological signif- icance of a
p.000043: geographic boundary. At the other end of the scale, there could be cause for misgiv- ings regarding the criteria for
p.000043: the selection of participants in projects such as the ones launched in the United Kingdom or the United States, in
p.000043: particular as regards the categorisation of popula- tions and respect for rules for not discriminating on the
p.000043: basis of genetic criteria (the ‘Oviedo’ Convention, or ‘Genetic Information Non-discrimination Act’ in the United
p.000043: States.
p.000043: These undertakings, which are already known to be feasible, certainly do make a contribution to science. But
p.000043: incidentally, they also contribute to the trivialisation we referred to above. Triviali- sation and generalisation
...
p.000043: travelling from the present to the past, revealing past events in a new light invest- ed with new meanings, discovered
p.000043: retrospectively […] The past becomes of paramount importance in the manner of experiencing the here and now which the
p.000043: revelation forces upon the subject. Re- living history, the subject will be reflecting on real or imagined past
p.000043: events, interconnecting them, giving them a different meaning. The traumatic potential of the communication is all
p.000043: the greater when its impact strikes an unprepared psyche.103
p.000043:
p.000043: 102 Gargiulo M and Durr A. « Anticiper le handicap. Les risques psychologiques des tests génétiques ». In Es- prit,
p.000043: 2014/7 July, p. 52-65.
p.000043: 103 Gargiulo M and Durr A. Ibidem.
p.000043:
p.000043:
p.000043:
p.000043: Opinion N° 124
p.000043:
p.000043:
p.000044: 44
p.000044:
p.000044: In such circumstances, a psychological counselling session is particularly useful to help the per- son concerned to
p.000044: prepare for and anticipate the test results and thus minimise their traumatic effect which is particularly aggravated
p.000044: by a state of emotional unpreparedness. Such counselling provides the patient with the tools for appropriating the
p.000044: contents of this new knowledge and in particular the various kinds of uncertainty it contains. “Healthy anticipation
p.000044: is conditioned by ac- ceptance of the unpredictable! Moderate and adaptive anticipation is in no way an exact (fanci-
p.000044: ful!) prediction of the future. On the contrary, it is related to a process of symbolisation of the di- versity and
p.000044: complexity of possible scenarios” 104.
...
p.000044: participating simul- taneously in another research project105.
p.000044:
p.000044:
p.000044: 104 Missonnier S. (2006). Périnatalité prénatale, incertitude et anticipation. Adolescence ; 1 : 207-224.
p.000044: 105 Article L1122-1-1 “No biomedical research may be practised involving individuals without their free and informed
p.000044: consent, secured after the information listed under article L. 1121-1 has been provided to them. Consent
p.000044: is delivered in writing or, if that is not possible, witnessed by a third party. The latter must be entire- ly
p.000044: independent of the investigator and the instigator.”
p.000044:
p.000044:
p.000044:
p.000044:
p.000044: Opinion N° 124
p.000044:
p.000044:
p.000045: 45
p.000045:
p.000045: As in all cases of genetic study originating in clinical patient investigation, even though consent is obtained on the
p.000045: basis of true, sincere and welcome information, can we consider that consent was actually voluntary? When people
p.000045: are in a state of medical frailty, are they in a position where they can give free and informed consent
p.000045: committing themselves for the future? Should
p.000045: they be asked to consider receiving an in-
p.000045:
p.000045: flow of information at a future time once the interpretation of their DNA sequencing has made further progress,
...
p.000045:
p.000045: The generalisation of genetic data raises the issues of wanting to know, needing to know, or even having
p.000045: the right to know, but also what is left of the right not to know106,107.
p.000045:
p.000045: 106 There are cases where prevention and treatment overlap: up to quite recently, the issues arising out of the
p.000045: BRCA1/2 tests were purely preventive, but lately, with the advent of specific treatment for cancers
p.000045: appearing in a BRCA-/- context (PARP inhibitors), there are also therapeutic issues. When someone tests positive for a
p.000045: disease, surely the right not to know is questionable?
p.000045: 107 Weil-Dubuc PL. (2013). Les servitudes du droit de savoir. Autour du diagnostic présymptomatique. Pu- blié dans
p.000045: laviedesidees.fr.
p.000045:
p.000045:
p.000045:
p.000045: Opinion N° 124
p.000045:
p.000045:
p.000046: 46
p.000046:
p.000046: In 2013, the American College of Medical Genetics and Genomics (ACMG) published recommen- dations for reporting of
p.000046: incidental findings in the event of full genome analysis108. Some fifty ge- netic anomalies were listed which
p.000046: warranted, according to this recommendation, an obligation to inform those concerned or the patients, regardless of
p.000046: whether they had or had not requested that information and irrespective of their age. This step goes a long way in
p.000046: the direction of an obligation to know, to giving up the right to ignorance. The arguments following the
p.000046: report’s publication led to the recommendations being withdrawn109. Being made aware of incidental findings is
p.000046: therefore no longer an obligation; it is still an option.
...
p.000046:
p.000046:
p.000046: 108 Green RC, et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome
p.000046: sequencing. Genet Med.; 15: 565–574.
p.000046: 109 Burke W, et al. (2013). Recommendations for returning genomic incidental findings? We need to talk!
p.000046: Genet Med.; 15:854-859.
p.000046: 110 These questions highlight the fact that our genetic heritage, the DNA sequence that identifies us as in-
p.000046: dividuals, does not belong to the individual; it is shared with the individual’s family. It was inherited and will be
p.000046: passed on to future generations but we have no control over what is transmitted nor over the
p.000046: ‘normality’ of what is transmitted.
p.000046:
p.000046:
p.000046:
p.000046:
p.000046: Opinion N° 124
p.000046:
p.000046:
p.000047: 47
p.000047:
p.000047: IV / Main issues arising out of this reflection
p.000047: Rapidly progressing technology in genetics inspired in CCNE the need to continue its considera- tion of the subject in
p.000047: the light of the generalisation of high throughput DNA sequencing and its impact on medicine and society. This
p.000047: technological progress with faster, cheaper and more reli- able analyses has become feasible thanks to considerable
p.000047: investment in cognitive research, par- ticularly by the public sector, together with technological breakthroughs
p.000047: brought about by the activities of the private sector. This represents an unprecedented opportunity for accelerating
p.000047: and augmenting our grasp of the living world and for improving the help we are able to give to those who are victims of
p.000047: its dysfunctions.
...
p.000047: Similarly, the question of personal in- formation and whether it concerns other members of the family is not a new one.
p.000047: It already ex- isted when members of the medical professions needed to ask about family history.
p.000047: Nor is the difficulty of making personal genetic data anonymous a new and singular problem, even though
p.000047: it is even more critical. Nevertheless, although the change in scale does not make
p.000047:
p.000047:
p.000047: 111 Kelly ME, et al. Incidental findings detected on emergency abdominal CT scans: a 1-year review. Ab- dom Imaging.
p.000047: 2015; Jan 10.
p.000047:
p.000047:
p.000047:
p.000047: Opinion N° 124
p.000047:
p.000047:
p.000048: 48
p.000048:
p.000048: any previously unheard of contribution to the issue, it does magnify existing problems concern- ing how this should be
p.000048: done and the ethical obligation to find out whether the new techniques are of benefit to the majority without
p.000048: encroaching on the rights of individuals.
p.000048: Before even entering into any discussion of these issues, it should be noted that if the procedure was to be
p.000048: generalised, we could neither carry out the genomic analysis nor provide personal ge- netic counselling for lack of the
p.000048: necessary financial and human resources. Furthermore, the fa- cilities to store the massive amount of data generated
p.000048: for an appropriately protracted period of time would not be available.
p.000048: A. The place of genetics in the evolution of medical practices
p.000048:
...
p.000048: could be, as has already been demonstrated for plant life, a certain de- gree of inheritable acquired traits, inscribed
p.000048: in the epigenome. The extreme complexity of the arrangement and activity of DNA sequences revealed by full analysis
p.000048: techniques no longer coin- cide with traditional representations of the ‘genetics alone’ variety. Genetic variations
p.000048: may, for instance, not be expressed as symptoms, or else may be so in some individuals and not in others. There is
p.000048: therefore no such thing as the concept of ‘a normal genome’, in the meaning of ‘an ideal genome’.
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048:
p.000048: Opinion N° 124
p.000048:
p.000048:
p.000049: 49
p.000049:
p.000049: 2- Precision medicine112
p.000049:
p.000049: Progress in genomics is contributing to make medicine move towards a more precise definition of certain therapeutic
p.000049: options and introducing, within certain limits, closer clinical adjustment to a person’s genetic characteristics. For
p.000049: the time being, this approach is still limited and sporadic, but it is full of promise. One step at a time,
p.000049: correlations established between certain pathologies, or subgroups of pathologies and their genetic counterparts are
p.000049: making it possible to diagnose or predict the onset of certain diseases and, in some cases, to treat them. The
p.000049: abundance of infor- mation generated by the full genome analysis is such that knowledge of the existence of genetic
p.000049: variants necessarily precedes knowledge of their import.
...
p.000049: vers une médecine de précision ? Les enjeux scientifiques, technologiques, sociaux et éthiques de la médecine
p.000049: personnalisée. Office parlementaire des choix scientifiques et techniques, 2014, rapport acces- sible à
p.000049: http://www.senat.fr/rap/r13-306/r13-306_mono.html
p.000049: 113 Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal
p.000049: products: “As a result of the high cost of research and development, the pharmaceuticals industry is reluctant to
p.000049: develop medicinal products intended for the treatment of rare conditions, as well as those called 'orphan medicinal
p.000049: products', for which the market is smaller."
p.000049: 114 Claeys A, Vialatte JS. 2014, opus quoted supra.
p.000049:
p.000049:
p.000049:
p.000049: Opinion N° 124
p.000049:
p.000049:
p.000050: 50
p.000050:
p.000050: 3- A different relationship with disease
p.000050:
p.000050: Human health and its definition, unchanged since the World Health Organization expressed it in 1946115, is a vast
p.000050: subject for debate. It is confronted by medicine based on scientific evidence to which, as we have seen, genetic
p.000050: data and particularly that generated by large-scale and high- throughput DNA sequencing, provides apparent
p.000050: objectivity. And yet this does not contradict an understanding of disease as “life at a different pace” even though it
p.000050: seems to call into question the primacy of clinical practice, referred to by G. Canguilhem in the following terms:
...
p.000050:
p.000050:
p.000050: 115 “Health is a state of complete physical, mental and social well-being and not merely the absence of dis- ease or
p.000050: infirmity.” Preamble to the Constitution of the World Health Organization as adopted by the In- ternational Health
p.000050: Conference, New York, 19-22 June 1946.
p.000050: 116 Etienne JC, Corne C. Les enjeux de la prévention en matière de santé. 2012. Avis du
p.000050: Conseil économique, social et environnemental.
p.000050:
p.000050:
p.000050:
p.000050: Opinion N° 124
p.000050:
p.000050:
p.000051: 51
p.000051:
p.000051: care expenditure is widely viewed as inevitable. Exploiting this data in terms of risk, with an eye on public health
p.000051: policy, on a country-wide scale, does not signify that it brings with it direct indi- vidual benefit in terms of
p.000051: prevention and therefore of health. What information does the ‘full’ genome today, and the ‘full’ phenotype tomorrow,
p.000051: provide for the individual?
p.000051: 5- The physician’s place and role
p.000051:
p.000051: In Opinion N° 120, CCNE had already looked into the new impediments to medical practice in the presence of the very
p.000051: great degree of technicality in DNA sequencing, sequencing interpreta- tion and, above all, the massive amount of
p.000051: information it generates: “...an a priori selection of the DNA sequence to be targeted before the couple’s
p.000051: medical advisor has any say on the matter, de- prives the doctor who is the direct counterpart in the dialogue
p.000051: with the expectant mother or the couple, of any power of judgment and any possibility of responding in detail to the
p.000051: numerous ques- tions that the results of the procedure are bound to prompt. The doctor would be disempowered at a time
p.000051: when he or she would still be responsible for providing not only pregnancy follow up but also the follow up of the
...
p.000051: commercial ser- vices, how do we determine who will be answerable and how reliable and comprehensible in- formation
p.000051: should be delivered, although this is essential in order to obtain a person’s consent? How can we ensure that the use
p.000051: made of genetic data serves no other purpose than the one for which it was collected? How and by whom should the
p.000051: individual be informed of the genetic data collected and even more important, of its interpretation and of the
p.000051: uncertainties attached to this interpretation?
p.000051: Nor must we forget that the broader-based and the less specific is an analysis, the more fre- quently
p.000051: will unexpected data emerge, the meaning of which may not be altogether clear. What
p.000051:
p.000051: Opinion N° 124
p.000051:
p.000051:
p.000052: 52
p.000052:
p.000052: then shall we be able to do so that those concerned are not left to their own devices when con- fronted with
p.000052: frightening data and alarming uncertainty? How much attention should be given to psychological counselling as a
p.000052: component of medical practice, in particular for genetic subjects?
p.000052: B. Reflection needed on respect and protection of privacy
p.000052:
p.000052: The change of scale as regards the instruments required for the acquisition and analysis of ge- netic data, the
p.000052: quantities of data it will generate, their multiple and varied uses and the numbers and variety of operators who will
p.000052: be exploiting them will have such consequences on the con- cept of privacy that we must review our thinking on this
p.000052: subject.
...
p.000052: January 6, 1978:
p.000052: • Purpose (legitimate and specific);
p.000052: • Proportionality (recording only pertinent and necessary information);
p.000052: • Pertinence of data (appropriate, pertinent and not superfluous in the light of stated objec- tives);
p.000052: • Limited duration (data stored in keeping with stated treatment objectives);
p.000052: • Safety and confidentiality (authorised staff, steps taken to safeguard data, preventing unau- thorised access);
p.000052: • Transparency (information provided to those concerned);
p.000052: • Respect for personal rights (informing those concerned and the right to object; rights of ac- cess and correction
p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
...
p.000053: 119 Halpérin JL, « Protection de la vie privée et privacy : deux traditions juridiques différentes ? », Les Nou- veaux
p.000053: Cahiers du Conseil constitutionnel 2015/3 (N° 48), p. 59-68 ; Whitman J, “The Two Western Cultures of Privacy: Dignity
p.000053: v. Liberty”, The Yale Law Journal, 2004, 113, p. 1151-1221; Rosen J, The Unwanted Gaze: The Destruction of Privacy in
p.000053: America, New York, Vintage Books, 2000; Post RC, “Three Concepts of Priva- cy”, Georgetown Law Journal, 2001, 89, p.
p.000053: 2087,2098.
p.000053: 120 Report by the Conseil d’État (Council of State, highest French administrative jurisdiction): Le numérique et les
p.000053: droits fondamentaux, La Documentation française, Paris, 2014.
p.000053:
p.000053:
p.000053:
p.000053: Opinion N° 124
p.000053:
p.000053:
p.000054: 54
p.000054:
p.000054: al data, defining a chain of accountability starting with data collecting organisms through to final users, attaching
p.000054: metadata to personal data indicating the purposes for which the data was col- lected and thereby, defining restrictions
p.000054: on its use121, etc. 122
p.000054: 3- The public health/privacy relationship
p.000054:
p.000054: Ethics requires us to raise the issue of the impact that sequencing technology has already had on individuals and
p.000054: society. This is all the more important if it becomes possible to sequence not just a genome, but also to have
...
p.000054: within organisms collecting such personal data, by creating a right to be delist- ed based on the right to oppose the
p.000054: processing of an individual’s own personal data, by inversing ‘public by default’ to ‘private by default’, etc.
p.000054: 123 This situation is representative of others: (i) the parents of underage children holding the rights be- longing
p.000054: to their offspring, following constant legislation; (ii) ascendants and collaterals of people to be listed
p.000054: in the French automated national genetic prints DNA database (FNAEG - Fichier National Automati- sé des Empreintes
p.000054: Génétiques).
p.000054:
p.000054:
p.000054:
p.000054:
p.000054: Opinion N° 124
p.000054:
p.000054:
p.000055: 55
p.000055:
p.000055: al’s privacy and the furtherance of public health must always be drawn up so as to define clearly the limitations and
p.000055: privileges of personal capacity rights.
p.000055: 4- Modifications to information and consent procedures
p.000055:
p.000055: Consent is obviously required for the storage of, and access to, genetic data. It cannot, however, have the same
p.000055: impact as in cases where data is collected for a specific purpose since it is as- sumed that
...
p.000055: dis- tinguish between that which is within the purview of genetics, of heredity in the broadest mean- ing of the word,
p.000055: and that which falls within the scope of the environment or of individual factors. It will be up to lawmakers, working
p.000055: in close cooperation with all concerned, physicians and re- searchers obviously, but also more generally with citizens
p.000055: themselves, with all the stakeholders, to develop safeguards and control procedures to make them compatible with the
p.000055: founding prin- ciples of our country’s medical practices in genetics. Clearly, such a review will not yield results
p.000055: before quite some time124. There is, however, an essential need for it to be open and accessible
p.000055:
p.000055:
p.000055: 124 Law and technology do not follow the same timetable.
p.000055:
p.000055:
p.000055:
p.000055: Opinion N° 124
p.000055:
p.000055:
p.000056: 56
p.000056:
p.000056: to all as part of a democratic debate which the Committee highly recommends.
p.000056:
p.000056: 5- Reconciling shared data and privacy
p.000056:
p.000056: Confronted with public heath issues, individuals may choose to revise their criteria for the rig- orous protection of
p.000056: their privacy, in particular by deciding to reveal information on their per- sonal health, which is what they do
p.000056: already on certain forums and social networks. Let us not forget that some medical data, genetic data particularly,
p.000056: also concerns next of kin and is situated at the outer confines of what can be considered to be individual data.
...
p.000056: from which they themselves might also derive benefit? But, in such cases, is ‘sharing’ the right word to describe the
p.000056: process? Is this not more in the nature of a gift of information to those for whom it might be beneficial?
p.000056: We are therefore entering the subject of respect for privacy from the point of view of self-
p.000056: determination rather than of ownership. The principle of non-appropriation of genetic data supposes the
p.000056: existence of a free access policy coupled with pooling such benefits as might be
p.000056:
p.000056: Opinion N° 124
p.000056:
p.000056:
p.000057: 57
p.000057:
p.000057: forthcoming (intellectually, medically and financially), and is akin to the notion of public good. Free access, and
p.000057: therefore the pooling, of data are now decisive constituents of scientific pro- gress, leading to some new
p.000057: practices in scientific research, in particular outside the sphere of ac- ademic research. The concept of
p.000057: ‘publicness’125 was coined to bear witness to the collective val- ue of self-revelation: creating a climate of
p.000057: trust and common knowledge so as to improve the chances for individual emancipation. The concept is therefore
p.000057: ‘targeted’, it is a ‘service’ to the public, it is not identical to generalised transparency; it seeks to serve a more
...
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057:
p.000057: 125 There is no satisfactory translation in French for the English word ‘publicness’. There have been sug- gestions
p.000057: that another newly minted word, ‘publitude’ in French, could be used to designate an attitude of transparency, of
p.000057: public sharing of personal data, a new standard launched by the Internet giants with the slogan: ‘If you have nothing
p.000057: to hide you have nothing to fear’.
p.000057: 126 It would be well to consecrate the notion that genome-related data is the ‘common property’, of several
p.000057: ‘co-owners’, the use of which can only be decided jointly by all concerned.
p.000057:
p.000057:
p.000057:
p.000057:
p.000057: Opinion N° 124
p.000057:
p.000057:
p.000058: 58
p.000058:
p.000058: C. The risk that genetics could ‘take over’ the preventive component of public health
p.000058:
p.000058: We have analysed the role and the implications of modern genomic developments as regards prediction and
p.000058: prevention in personal and public health, in particular those connected to large- scale high-throughput DNA sequencing.
p.000058: This role is both the cause and the consequence of using a very powerful technology capable of increasing the knowledge
p.000058: we already have or wish to acquire about our heredity and, more gen- erally, of our physiology, before its
...
p.000058: Report of the Commission on Social Determinants of Health. World Health Organization 2009. ISBN 978 92 4 256370 2.
p.000058: 128 Marmot M. 2010. “Fair society, healthy lives”. Strategic review of health inequalities in England
p.000058: post- 2010.
p.000058: 129 It is worth noting that only 2.24% of current health expenditure was spent on prevention in France in 2014.
p.000058: http://www.irdes.fr/enseignement/chiffres-et-graphiques/depenses-de-sante/depense-courante-de- sante.html
p.000058:
p.000058:
p.000058:
p.000058:
p.000058: Opinion N° 124
p.000058:
p.000058:
p.000059: 59
p.000059:
p.000059: ties due to people’s professions or where they live.
p.000059:
p.000059: Should we not also investigate the nature of the scientific, political and mainly economic forces moving relentlessly
p.000059: in the direction of an increasingly technical management of health care? Ge- netic testing is only the tip of the
p.000059: iceberg, currently conspicuous because of the prodigious speed of its development.
p.000059: Human genomic research will only be a major asset for improving human health if it does not supplant clinical medicine
...
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: 130 Public health policy can help to modify the social and economic determinants of health whereas clinical medicine
p.000059: is, more often than not, ineffective in this respect.
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: Opinion N° 124
p.000059:
p.000059:
p.000060: 60
p.000060:
p.000060: V / Annexes
p.000060: A. Analysis of the legal context
p.000060:
p.000060: 1- Examination of genetic characteristics
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
p.000060: prenatal development. The purpose of the analysis is to “either make, confirm or refute a genetic diagnosis, or to
p.000060: search for the characteristics of one or several genes that could cause disease in a person or in potentially concerned
...
p.000060: bioethics, prec., 4.
p.000060: 136 As demonstrated by Canguilhem, a physician responds to a request, that of people consulting him
p.000060: because they feel unwell and call on his competent care; therefore, says Canguilhem, “it is first and
p.000060: foremost because people feel sick that medicine exists”, to which he adds: “it is always by relevance to the sick
p.000060: person, through clinical practice, that there is justification for the qualifier “pathological”.
p.000060: G. Canguilhem, Le normal et le pathologique, PUF, coll. Galien, 1966, 156.
p.000060:
p.000060:
p.000060:
p.000060: Opinion N° 124
p.000060:
p.000060:
p.000061: 61
p.000061:
p.000061: should be added that the law specifies the qualifications and training the physician must have, while the institutions
p.000061: carrying out the tests must be specifically approved for the purpose137.
p.000061: As a result, specific rules are prescribed for genetic testing138, as is also the case for other practices, because in
p.000061: this genetic context, we are dealing with medicine for the identification of a disorder ra- ther than medicine for a
p.000061: patient, a disorder which, being genetic, suggests that a biological future is written into the depths of a gene the
p.000061: subject carries. Moreover, evidence of the disease only implies, except in some rare cases, a probability of onset of a
p.000061: disease that often can neither be treated nor prevented. Uncertainty therefore is characteristic of this type of
...
p.000061: team of medical practitioners combining both clinical and genetic qualifications (Article R. 1131-5 of the
p.000061: French Code of Public Health).
p.000061: 138 In this context, Elsa Supiot points out the lawmaker’s decision to formulate a ‘genetic exception’. E. Su- piot,
p.000061: Les tests génétiques, contribution à une étude juridique, thesis Paris I, 2013, p. 10 and s. Presses Uni- versitaires
p.000061: d’Aix-Marseille (PUAM), 2014, 40 and s.
p.000061: 139 “Everyone is entitled to information on the state of his or her health”: article L. 1111-2 par. 1 of the French
p.000061: Code of Public Health.
p.000061:
p.000061:
p.000061:
p.000061: Opinion N° 124
p.000061:
p.000061:
p.000062: 62
p.000062:
p.000062: without the patient’s “free and informed consent” which “may be withdrawn at any point” 140: physi- cians cannot treat
p.000062: patients without their agreement141.
p.000062: For genetic testing, the Code Civil142 contains a general principle, to the effect that physicians must obtain the
p.000062: subject’s express consent before the test, prior consent being an essential condition for the test to take place.
p.000062: Moreover, patient consent must be given formally in writing. However, it would seem that this is intended by
...
p.000062: rules relating to information are set out as two obliga- tions, one on the prescribing physician to inform the subject,
p.000062: before the test, of the risks that silence on the subject’s part would entail for members of the family in
p.000062: the event that a serious genetic anomaly were to be diagnosed; and the other obligation on the person submitting
p.000062: to the test to in- form the family of the results of the test144. But it should be made clear that these two
p.000062: obligations only concern the circumstances where the anomaly can be alleviated preventively or by treatment. These
p.000062: obligations are evidence of the familial specificity of these diseases, since, as CCNE remarked in its Opinion n° 76145
p.000062: “...the results of a genetic test are not the sole concern of the proband. They also affect the whole family,
p.000062: ascendants, descendants, collaterals, and possibly spouse.” It would seem that the information to be
p.000062: provided to the family is so essential that it obscures the infor- mation which one would expect to see
p.000062: communicated to the test subject, but which is not referred to in the law, so that one needs to consult the regulatory
p.000062: arrangements in order to discover the exact
p.000062:
p.000062:
p.000062:
p.000062:
p.000062: 140 Article L. 1111-4 par. 4 of the French Code of Public Health.
...
p.000062: the administration of treatment.
p.000062: 142 Article 16-10 par. 2 of the French Code Civil.
p.000062: 143 This rule was repeated in Article L. 1131-1 para.1 of the French Code of Public Health, but was no long- er to be
p.000062: found in the version of the August 6, 2004 Law on bioethics; it now only states that testing a per- son’s genetic
p.000062: traits is regulated both by the Code Civil and by the articles of the Code of Public Health re- ferring to it. As it
p.000062: stands, it becomes difficult to understand the paragraph 2 which follows and which pro- vides for exceptions to this
p.000062: general rule, without explanation.
p.000062: 144 Either in person or through the prescribing physician.
p.000062: 145 CCNE, Opinion n°76, Regarding the obligation to disclose genetic information of concern to the family in the
p.000062: event of medical necessity, April 24, 2003.
p.000062:
p.000062:
p.000062:
p.000062: Opinion N° 124
p.000062:
p.000062:
p.000063: 63
p.000063:
p.000063: contents of the information received146. Nevertheless, communication of genetic information to rel- atives seems to be
p.000063: so justifiable that, even though they never asked for the information, the issue is ignored of finding out whether they
p.000063: want or do not want to know147. And yet, the subject of the test may refuse to know the results while authorising the
p.000063: prescribing physician to inform other members of the family, thus effectively forcing the information on to them148.
p.000063: Once the genetic testing is completed, communication of the results149 is dealt with according to rules
p.000063: specific to genetic tests instead of the general rules regulating biomedical test results. Whereas the latter are
...
p.000063: governed by the articles of this document as well as to those comprising chapter 1 of title III of book 1 of the first
p.000063: part”.
p.000063: 150 Based on Article L.1111-2 of the Code of Public Health stating that : ““a member of the medical profes-
p.000063: sions within the context of his or her qualifications will communicate the information.”
p.000063: 151 Article R. 1131-19 para. 2 of the Code of Public Health: “...or, as the case may be, to persons listed under
p.000063: the second paragraph of Article L. 1131, as part of an individual medical interview.”
p.000063:
p.000063:
p.000063:
p.000063:
p.000063: Opinion N° 124
p.000063:
p.000063:
p.000064: 64
p.000064:
p.000064: number of genetic tests sold through the internet by companies outside the established healthcare system” and
p.000064: stated in the Preamble to the Protocol that it was “Aware also of the concerns that exist regarding possible improper
p.000064: use of genetic testing, in particular of the information generated there- by”. But since these rules only refer to
p.000064: medical practices, they do not apply to genetic tests sold by commercial firms on the Internet and performed in a non
p.000064: medical context. The Additional Protocol could go no further than to state that clinical utility of a genetic test
p.000064: shall be an essential criterion for deciding to offer this test to a person or a group of persons152.
p.000064: Similarly, French legislators, noting the disturbing development of genetic tests on offer via the In- ternet, a
...
p.000064: 153 Rapp. AN, n° 3403, May 11, 2011, 26, J. Leonetti.
p.000064: 154 Article L1133-4-1 of the Code of Public Health, reproducing Article 226-28-1 of the Criminal Code stat- ing that
p.000064: “a person requesting examination of his or her genetic characteristics or those of a third party […] except in the
p.000064: circumstances provided for by law, incurs a fine of €3,750”.
p.000064: 155 Genetic Tests for Health Purposes,
p.000064: Council of Europe, 2012, http://www.coe.int/t/dg3/healthbioethic/Source/fr_geneticTests_hd.pdf
p.000064: 156 F. Ewald, J-P Moreau, Génétique médicale, confidentialité et assurance, Revue Risques, n°18, 1994.
p.000064:
p.000064:
p.000064:
p.000064: Opinion N° 124
p.000064:
p.000064:
p.000065: 65
p.000065:
p.000065: capital. Consequently, concealing information about poor health harms other insured people who are made to bear
p.000065: an unfair share of the burden and, at the same time, not being allowed to communicate information about
p.000065: good health is harmful to the person concerned who is unable to negotiate a more favourable insurance premium.
p.000065: It was decided, firstly in the draft law on bioethics in 2001 and later in draft legislation on patients’ rights and
p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
...
p.000065: 159 Article L. 113-2-2° of the code des assurances (insurance code)
p.000065: 160 Article L. 1141-1 of the Code of Public Health. The same rule is reiterated in the code des assurances
p.000065: (Article L. 133-1 of the code des assurances), as also in the code de la sécurité sociale (French social security code)
p.000065: as applicable to pension funds (Article L. 932-39 du code de la sécurité sociale), and in the code de la mutualité for
p.000065: mutual health insurance systems as define by that code (Article L. 112-4 of the code de la mutualité).
p.000065: 161 Article 225-3 1° of the Code Pénal. (criminal code)
p.000065:
p.000065:
p.000065:
p.000065: Opinion N° 124
p.000065:
p.000065:
p.000066: 66
p.000066:
p.000066: ly acceptable possibility of using embryonic cells for diagnosis before the embryo is implanted in the womb.
p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
p.000066: (interruption volontaire de grossesse pour motif thérapeutique - ITG) as allowed by the January 17, 1975 law N° 75-17.
p.000066: The rationale on which this was based was that parents who already have one disabled child fear the birth of another
...
p.000066: with a genetic component, which raises in particular the issue of predicting the adult onset of a disease with no known
p.000066: cure. As time went by, prenatal diagnosis became increasingly extensive so that there was a risk of more frequent
p.000066: foetal selection and, by way of consequence, fears that a new form of eugenics would emerge. This would no longer be
p.000066: govern- ment policy but instead correspond to individual preferences, with the result that society would be- come
p.000066: intolerant of disability, and thus it “...could, unwittingly, lead to discrimination as to who will be born” as CCNE
p.000066: feared CCNE in its Opinion n° 107 in October 2009 on “ethical issues in connection with antenatal diagnosis:
p.000066: Prenatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)”.
p.000066:
p.000066:
p.000066: Opinion N° 124
p.000066:
p.000066:
p.000067: 67
p.000067:
p.000067: Prenatal diagnosis was initially regulated by the provisions of the law N° 94-654 dated July 29, 1994 and was defined
p.000067: as follows: “it describes medical practices aiming to detect in utero in the embryo or foetus a particularly severe
p.000067: affection. It must be preceded by medical consultation appropriate to the disorder under research.” This is a broad
p.000067: definition, but under this law, the rules applicable only ap- ply to biomedical tests with a view to discovering a
p.000067: specific condition when there is reason to suspect a particularly severe anomaly.
p.000067: Over the past twenty years, we have evolved from diagnosis for couples who already had a child with Down’s syndrome to
...
p.000067: dated 29th July 1994, but only as an exception163. An August 6th 2004 law later authorised another kind of biological
p.000067: diagnosis using cells sampled from the embryo in vitro, PGD/HLA tissue typing, so as to implant into the mother’s
p.000067: womb an embryo which is not just free of the particularly severe genetic disorder in question but also has an immune
p.000067: system compatible with an affected older sibling so that the latter can benefit from placenta blood or bone marrow
p.000067: haema- topoietic stem cell transplant.
p.000067: The legislators’ decision is unambiguous: there is no intention of analysing the full embryonic or foe- tal genome
p.000067: to detect all anomalies and even less any predisposition. Legislators did not endorse CCNE’s suggestion,
p.000067: set out in Opinion N° 107, that in the case of a preimplantation diagnosis of the embryo in vitro, a karyotyping
p.000067: procedure would be advisable in order to detect possible trisomies, instead of waiting to then do a prenatal diagnosis
p.000067: of the pregnant woman.
p.000067:
p.000067:
p.000067:
p.000067:
p.000067: 162 CCNE, Opinion n° 83, Generalised prenatal screening for cystic fibrosis, December 18, 2003.
p.000067: 163 Article L. 2131-4 of the Code of Public Health.
p.000067:
p.000067:
p.000067:
p.000067: Opinion N° 124
p.000067:
p.000067:
p.000068: 68
p.000068:
p.000068: In conclusion, it can be noted that, according to a study made by the Council of Europe, French law is evolving in
p.000068: harmony with a general trend of authorising prenatal diagnosis for medical purposes, with certain variations
p.000068: in national legislation from one country to another164.
p.000068: 3- Protection of personal data
p.000068:
p.000068: Rules protecting personal data have evolved with technological developments. Beginning with the French law n° 78-17
p.000068: of 6th January 1978 on Information Technology, Data Files and Civil Liberty, they mainly applied to manual and
p.000068: computerised data banks set up by government departments165. With particular emphasis on the defence of public
...
p.000068:
p.000068: 164 This 2010 study showed that prenatal diagnosis is largely acceptable (explicitly or implicitly) in the
p.000068: countries responding to the questionnaire, with the exception of Ireland. Preimplantation diagnosis is ex- pressly
p.000068: provided for in almost half of the responding States and is totally prohibited in four delegations of the Steering
p.000068: Committee on Bioethics (CDBI)
p.000068: http://www.coe.int/t/dg3/healthbioethic/Source/INF_2010_6_dpidpn_fr.pdf
p.000068: 165 Following on from the SAFARI project (Système automatisé pour les Fichiers Administratifs et le Réper- toire des
p.000068: Individus - Automated administrative identification system) put forward by INSEE (French na- tional statistics
p.000068: bureau) in 1971.
p.000068: 166 Adopted by the Council of Europe.
p.000068:
p.000068:
p.000068:
p.000068: Opinion N° 124
p.000068:
p.000068:
p.000069: 69
p.000069:
p.000069: level of protection167 throughout the Member States168. This directive was transposed into French
p.000069: legislation very belatedly by law n° 2004-801 of August 6th 2004169, as France feared a decline in in- dividual liberty
p.000069: and protection of privacy. This is in fact the case in particular for health related data for which processing is
p.000069: prohibited but which can be overturned by explicit consent on the part of the person concerned.
p.000069: However the legal framework was set up in 1995 at a time when use of the Internet was in its infan- cy. The rapid
...
p.000069: These circumstances
p.000069: explain the choice made to edict a ruling rather than a directive so as to harmonise the rules applica- ble within the
p.000069: European Union “ ensuring coherence and high standards of data protection in the
p.000069: new setting offered by the entry into force […] of the now binding Charter of Fundamental Rights "
p.000069: 171.
p.000069:
p.000069: According to the European Charter of Fundamental Rights, the protection of individuals with regard to the processing of
p.000069: personal data is a fundamental right, with a reference to which begins the draft ruling submitted to the European
p.000069: Parliament and the Council172. Similarly, in Opinion N° 3/2015173,
p.000069:
p.000069:
p.000069: 167 For “...the level of protection of the rights and freedoms of individuals with regard to the processing of
p.000069: such data (to) be equivalent in all Member States” there was a need to “remove the obstacles to flows of per- sonal
p.000069: data” (8th Recital, Directive 95/46/EC, October 24th 1995.
p.000069: 168 Hence the statement that “Whereas the principles of the protection of the rights and freedoms of individ- uals,
p.000069: notably the right to privacy, which are contained in this Directive, give substance to and amplify those contained in
p.000069: the Council of Europe Convention of 28 January 1981”. 11th Recital of Directive 95/46/EC of 24 October 1995.
...
p.000069: negotiations with regard to the proposal for a general regulation on data protection, a proce- dure known as an
p.000069: informal ‘trilogue’. The basis for the negotiation is the Commission’s proposals of Janu- ary 2012, the Parliament’s
p.000069: legislative resolution of 12th March 2014 and the Council’s General Approach adopted on 15th June 2015. The three
p.000069: institutions are committed to dealing with the general regulation as part of the wider reform package on data
p.000069: protection which includes the proposed directive for police and judicial activities. This process should be completed
p.000069: by the end of 2015.
p.000069:
p.000069:
p.000069:
p.000069: Opinion N° 124
p.000069:
p.000069:
p.000070: 70
p.000070:
p.000070: the European Data Protection Supervisor (EDPS) notes that these principles are a reference point, but even
p.000070: more significantly he asserts that respect for human dignity is the basis for any processing of personal data,
p.000070: considering future European rules on personal information as a tool to “safeguard individuals’ fundamental rights and
p.000070: freedoms in the data-driven society of the future”. This reference to human dignity is consequential since the
p.000070: explanations to the Charter of Fundamental Rights took care to state that the “dignity of the human person is not only
p.000070: a fundamental right in itself but con- stitutes the real basis of fundamental rights”.
p.000070: In a constantly evolving context, reporting on the rules applicable to processing health related and genetic data is no
p.000070: easy task: on the one hand, the future Regulation is still in draft form with remain- ing differences of opinion on
p.000070: certain essential points with regard to privacy; on the other, the CJEU ruling in the Schrems v Data Protection
p.000070: Commissioner Case of October 6, 2015174, emphasising the issue of the transfer of personal data to a third country
p.000070: outside the EU which may, in principle, take place only if that third country ensures an adequate level of
p.000070: protection of the data, will no doubt have an impact on the final discussions of the draft Regulation. The issue
p.000070: called into question is the European Commission Decision n° 2000/520/EC of 26 July 2000 regarding the adequacy of
p.000070: protection of the data provided by the US Department of Commerce “Safe Harbour” principles. The decision considered
p.000070: that the United States, third country, provided an adequate level of protection for Euro- pean citizens’ data under the
p.000070: Safe Harbour principles and therefore authorised transfers from mem- ber states to companies established in the United
p.000070: States who are committed to respecting the ‘Safe Harbour’ principles175.
p.000070: But in 2013, Edward Snowden’s revelations revealed the existence of large scale data collection pro- grammes from
p.000070: digital data companies such as Google, Facebook, Amazon, Twitter, Apple who were granting privileged access of the data
p.000070: they were storing to American intelligence agencies. An Aus-
p.000070:
p.000070:
p.000070: 173 Opinion 3/2015, Europe’s big opportunity, EDPS Recommendations on the EU’s options for data protec- tion reform,
p.000070: 28 July 2015, 13,
p.000070: https://secure.edps.europa.eu/EDPSWEB/webdav/site/mySite/shared/Documents/Consultation/Opinio
p.000070: ns/2015/15-07-27_GDPR_Recommendations_EN.pdf
p.000070: 174 CJUE C-362 14 Schrems v Data Protection Commissioner 6
p.000070: Oct. 2015, http://curia.europa.eu/juris/liste.jsf?num=C-362/14 et Conclusions Y. Bot,
p.000070: 23 Sept. 2015, http://curia.europa.eu/juris/document/document.jsf?text=&docid=168421&pageIndex=0&doclang=FR&
p.000070: mode=lst&dir=&occ=first&part=1&cid=326249
p.000070: 175 The French law on Information Technology, Data Files and Civil Liberty in a similar fashion states that “The data
p.000070: controller may not transfer personal data to a State that is not a Member of the European Union if this State does not
p.000070: provide a sufficient level of protection of individual privacy, liberties and fundamen- tal rights with regard to the
p.000070: actual or possible processing of their personal data” (Article 68); but it adds “However, the data controller may
p.000070: transfer the personal data to a State not satisfying the conditions pro- vided for in Article 68 if the data subject
p.000070: has expressly consented to their transfer...”.
p.000070:
p.000070:
p.000070:
p.000070:
p.000070: Opinion N° 124
p.000070:
p.000070:
p.000071: 71
p.000071:
p.000071: trian citizen, Max Schrems, on Facebook since 2008, knew that, as was the case for other members residing in the
p.000071: European Union, his personal data was being transferred from Facebook’s Irish entity to servers in the United States
p.000071: where it is processed. Considering that his data was not adequately protected in the United States, he filed a
p.000071: complaint with the Irish Data Protection Commissioner who rejected it on the grounds that the Commission had
p.000071: found, in decision n° 2000/520/EC, that the United States provided adequate protection to transferred personal
...
p.000071: The Court invalidated the decision on the grounds that American companies receiving this data could not deny access to
p.000071: the US authorities by reason of national security requirements, public interest and law enforcement so that they were
p.000071: obliged to bypass the ‘safe harbour’ rules of protection and give access to personal data. In consequence, regulations
p.000071: allowing the US authorities generalised access to electronic communications must be viewed as encroaching on the
p.000071: essential content of the funda- mental right to protection of privacy. The Court was also of the opinion that the
p.000071: European Commis- sion approval of the decision in 2000 did not prevent the protection authority of a member
p.000071: State from examining an individual’s request with regard to the protection of personal rights and liberties which had
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
p.000071: practices in force in that third country did not ensure a level of protection of fundamental rights equivalent to that
p.000071: guaranteed within the European Union.
...
p.000071: not required if physi- cians or biologists are doing the processing and it is necessary for medical prevention, medical
p.000071: diag-
p.000071:
p.000071:
p.000071:
p.000071: 176 Article 8 of law n° 78-17 of 6 January 1978 modified and emerging from Directive 95/46/EC of 24 Oc- tober 1995.
p.000071: 177 Defined as follows by the Commission’s Proposal for a Regulation of January 2012:“’genetic data' means all data,
p.000071: of whatever type, concerning the characteristics of an individual which are inherited or acquired during
p.000071: early prenatal development”.
p.000071: 178 Rule in Directive 95/46/EC of 24 October 1995 and repeated by the Commission’s Proposal for a Regu- lation of
p.000071: January 2012, which unlike the Directive explicitly refers to genetic data.
p.000071:
p.000071:
p.000071:
p.000071: Opinion N° 124
p.000071:
p.000071:
p.000072: 72
p.000072:
p.000072: nosis or the administration of health care or treatment179. In the context of genetic research, express consent by the
p.000072: person concerned is required180, be it applicable to samples or genetic data and the research must respond to a
p.000072: specific medical or scientific objective.
p.000072: In a global genetic research context, attention must be paid to the development of pooled medical and genetic data,
p.000072: a recent example of which is the Global Alliance181 for Genomics and Health - GA4GH: a non-profit
p.000072: association gathering together health care providers, research institutions, pa- tients’ rights advocacy
...
p.000072: that the person, having been informed of the research project, has made no ob- jection”.
p.000072: 181 https://genomicsandhealth.org/about-global-alliance and Partage mondial des données génomiques et cliniques:
p.000072: une première étape pour la Global Alliance, Inca, 5 March 2013, http://www.e-
p.000072: cancer.fr/Actualites-et-evenements/Actualites/Partage-mondial-des-donnees-genomiques-et-cliniques-
p.000072: une-premiere-etape-pour-la-Global-Alliance
p.000072: 182 Framework for Responsible Sharing of Genomic and Health-Related Data
p.000072: http://genomicsandhealth.org/files/public/Framework%20%28French%20translation%29.pdf 183 Ibid., 6.
p.000072:
p.000072:
p.000072:
p.000072: Opinion N° 124
p.000072:
p.000072:
p.000073: 73
p.000073:
p.000073: being of a personal nature but not health related. Although currently the subject often gives rise to confident
p.000073: speculation that this avalanche of data will be the new Eldorado for medical research184, it cannot be denied that
p.000073: reflection on the legal rules for the protection of personal data extracted in extremely varied circumstances (medical
p.000073: and non medical) is still embryonic.
p.000073:
p.000073:
p.000073:
p.000073:
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p.000073:
p.000073:
p.000073:
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p.000073:
p.000073:
p.000073:
p.000073:
p.000073: 184 C. Noiville, E. Supiot, Big pharma, big data et recherche génétique en santé, Review of contracts, 15 June 2015,
p.000073: n°2, 352.
p.000073:
p.000073:
p.000073:
p.000073: Opinion N° 124
p.000073:
p.000073:
p.000074: 74
p.000074:
p.000074: B- CCNE Opinions pertinent to genetic testing and its applications
p.000074:
p.000074: Genetics, as it applies to humans, for which recent progress raises major ethical issues, has been the subject of
p.000074: CCNE’s attention on frequent occasions and on a number of subjects: genetic fingerprint- ing, genetic testing for
p.000074: medical purposes for adults or tests for prenatal, neonatal or preimplantation diagnosis.
p.000074: Twenty-two Opinions were written to address various scientific and societal issues and the challeng- es they raised.
p.000074: They can grouped into several categories:
p.000074: - The level of certainty or uncertainty delivered by genetic science? Within what bounda- ries do sequencing
p.000074: techniques give access to scientific knowledge,... And to clinical gain? What predictive and preventive
p.000074: medicine can be defined in consequence ?
p.000074: - The dangers of commoditising genetic data
p.000074:
p.000074: - The rights and duties connected to genetic information
p.000074:
p.000074: - The protection of genetic data and of biometric data banks
p.000074:
p.000074: - Reflection on filiation (origins, anonymity and filiation confidentiality) now that genetic traceability is a
p.000074: reality
p.000074: - Birth as a medically assisted event: the role of predictive medicine in life choices.
p.000074:
p.000074: LIST OF OPINIONS
p.000074:
p.000074: ➢ OPINION N° 5 Opinion on problems raised by prenatal and perinatal diagnosis. Report. (May 1985)
p.000074:
p.000074: Focusing on prenatal diagnosis, this Opinion points out the considerable future possibilities of- fered by
p.000074: these techniques, but also to the marked discrepancy between diagnostic capability (at a time prior to DNA sequencing)
p.000074: and therapeutic solutions. The report examines some of the issues with regard to predictive medicine.
p.000074: ➢ OPINION N° 9 Opinion on problems arising because of the development of methods using human cells and their
p.000074: derivatives. (February 1987)
p.000074: This Opinion is concerned with donations of products of human origin and the use made of them, in particular as regards
p.000074: not directly medical uses. It excludes purely economic uses made of such samples.
p.000074: ➢ OPINION N° 17 Opinion concerning the dissemination of DNA analysis identification techniques (genetic
p.000074: fingerprinting). (December 1989)
p.000074:
p.000074:
p.000074:
p.000074:
p.000074: Opinion N° 124
p.000074:
p.000074:
p.000075: 75
p.000075:
p.000075: CCNE proposed that strictly limited use should be made of genetic testing to ensure that citizens’ civil identity did
p.000075: not become a marketable object or be used as means of pressure on an individu- al (emphasis on free will and risks of
p.000075: discrimination). CCNE called attention to the dangers of stor- ing results provided by identification techniques using
p.000075: DNA analysis.
p.000075: ➢ OPINION N° 19 Opinion on embryo research aiming to achieve pre-transfer genetic diagnosis for which a moratorium was
p.000075: declared in 1986. (June 1990)
p.000075: Focusing on prenatal diagnosis, in particular for pre-implantation purposes, CCNE was very guard- ed on PID.
p.000075: ➢ OPINION N° 25 Opinion regarding the application of genetic testing to individual studies, family studies and
p.000075: population studies (June 1991).
p.000075: The extraordinary expansion of knowledge as a result of the swift development of genetic testing is an invitation to
p.000075: consider issues with regard to applications, apparently beneficial for individuals and for public health but also with
p.000075: potentially negative effects. CCNE insisted on the quality of the information which is the essential medium for all
p.000075: genetic testing applications. It also analysed issues related to ‘DNA banks’, cell ‘banks’ and computerised data.
p.000075: ➢ OPINION N° 27 Opinion that the human genome should not be used for commercial purposes. (De- cember 1991)
p.000075: While considering the possibility of products or processes derived from genome sequencing being patented, if specific
p.000075: conditions are met, CCNE stood firm on the principle that genes cannot be patented. The Committee insisted that
p.000075: any knowledge concerning the genome must be made open to the entire community.
p.000075: ➢ OPINION N° 30 Ethical issues raised by mandatory genetic testing for female participants in the Albertville games.
p.000075: (January 1992)
p.000075: This very focused Opinion concluded negatively on the use of biological determination (genetic) gender testing as a
p.000075: method to detect potential fraud in competitive sport.
p.000075: ➢ OPINION N°33 Opinion concerning the identification of patients suffering from glaucoma in France and on chromosomal
p.000075: location of the causative gene or genes. (January 1993)
p.000075: Opinion on a research protocol challenging the principles set out in Opinion N° 25. It recalled the need to protect
p.000075: the confidentiality of genetic information, privacy and medical confidentiality.
p.000075: ➢ OPINION N° 46 Opinion and recommendations on “Genetics and medicine: from prediction to pre- vention" (October 1995)
p.000075:
p.000075:
p.000075:
p.000075: Opinion N° 124
p.000075:
p.000075:
p.000076: 76
p.000076:
p.000076: Opinion recalling that “The basic principle of predictive medicine is to forecast the appearance of certain diseases
p.000076: before their symptoms are expressed. However, there are grave uncertainties about the value of the predictions
p.000076: and whether it is truly possible to prevent the conditions, and also whether this form of prevention is truly
p.000076: beneficial to individuals and to society.” The Opinion put emphasis on the right not to know.
p.000076: ➢ OPINION N°57 Technical progress, health and societal models: the ethical dimension of collective choices (March
p.000076: 1998)
p.000076: CCNE considered the ethical dimension of collective health policies, identification of priorities and procedures for
p.000076: settling inevitable conflict between certain individual aspirations and collective ne- cessities, in the context of
p.000076: very rapidly evolving medical technology and its now dominant position in medicine. The Opinion analysed the question
p.000076: of health confronted by the concept of economic containment.
p.000076: ➢ OPINION N° 76 Regarding the obligation to disclose genetic information of concern to the family in the event of
p.000076: medical necessity (April 2003)
p.000076: CCNE analysed the ethical issues with regard to informing relatives while strictly observing medi- cal confidentiality.
p.000076: The Committee considered that “It would be counter productive if the very notion of genetic screening were to
p.000076: create a priori reluctance for those who might feel threatened by compulsory disclosure of their biological privacy.”
p.000076: ➢ OPINION N° 77 Ethical issues raised by collections of biological material and associated infor- mation
p.000076: data : " biobanks", " biolibraries." (March 2003)
p.000076: This Opinion carried out an in-depth review of collections of biological objects and their conserva- tion in
p.000076: conjunction with personal data, medical data in particular, associating them with the indi- viduals providing the
p.000076: donations. Should the wording ‘biobanks’ or ‘biolibraries’ be used? CCNE recalled that conservation activity was
p.000076: not tantamount to acquisition or appropriation of the ele- ments collected and the resulting information data. It
p.000076: emphasised that the value of a collection is far greater than the sum of each of its components and that there was a
p.000076: need to reflect on the notion of solidarity and on the accountability of the national community in a situation where
p.000076: large banks or networks were set up on a population-wide scale. CCNE is purposely using in this con- text the
p.000076: wording “sharing the advantages or the benefit” rather than “sharing the profits”. It called for regulated
p.000076: transparency.
p.000076: ➢ OPINION N° 90 Access to origins, anonymity and confidentiality of filiation. (November 2005)
p.000076:
p.000076:
p.000076:
p.000076:
p.000076:
p.000076: Opinion N° 124
p.000076:
p.000076:
p.000077: 77
p.000077:
p.000077: The Opinion considered filiation as related to procreation in an era of ‘biological traceability’ and the risk of
p.000077: reducing human beings to the manner in which they were conceived.
p.000077: ➢ OPINION N° 95 Ethical issues raised by prediction based on detection of early behavioural disor- ders in children.
p.000077: (January 2007)
p.000077: CCNE was concerned with regard to the ethical implications of prediction, following a report by INSERM (French National
p.000077: Institute for Medical Research) on the detection of certain behavioural disorders in very young children, with a
p.000077: view to improving screening, prevention and manage- ment of such childhood disorders. The Committee pointed out
p.000077: the latent confusion between risk factors and causality.
p.000077: ➢ OPINION N° 97 Ethical issues arising out of the delivery of neonatal genetic information after
p.000077: screening for genetic disorders (May 2007)
p.000077: Thoughts on the delivery to parents of genetic information concerning their newborn child when screening for cystic
p.000077: fibrosis reveals a heterozygote status. The Opinion addressed the subject of non information and the right ‘not to
p.000077: know’. After a prospective analysis, the Committee called for taking into account the ethical consequences of current
p.000077: technological developments in genetic testing. It warned of the danger that scientific and technological
p.000077: breakthroughs could lead to “...founding the choice of our behaviour, not on ethical reflection but on obtaining
p.000077: automatically generated data through the use of new techniques when they are neither expected nor planned for.”
p.000077: ➢ OPINION N°98 Biometrics, identifying data and human rights. (April 2007)
p.000077:
p.000077: In this opinion which has a broader impact than pure genetic identification, CCNE was concerned by the tendency to
p.000077: generalise the collection of biometric data and the ensuing risks to individual liberties. Such risks are aggravated
p.000077: by the possibility of exchanging stored data which could well be misappropriated for illicit purposes. The
p.000077: Committee called for public debate on this funda- mental issue.
p.000077: ➢ OPINION N° 100 Migration, filiation and identification by genetic testing. (October 2007)
p.000077:
p.000077: A short and critical Opinion on certain moves calling for the use of modern genetic identification methods to limit the
p.000077: immigration of family members joining their relatives. CCNE recalled a num- ber of fundamental principles on
p.000077: filiation and the inalienable right to the protection of genetic privacy.
p.000077: ➢ OPINION N° 104 The “Personal Medical Record” and computerisation of health-related data. (May 2008)
p.000077:
p.000077:
p.000077: Opinion N° 124
p.000077:
p.000077:
p.000078: 78
p.000078:
p.000078: While it recognised the medical value of being able to share information without difficulty, in par- ticular for the
p.000078: management of serious and/or chronic disease, CCNE pointed out the danger of computerised (not ‘paperless’) data
p.000078: for medical confidentiality, the right ‘not to know’, the right to ‘oblivion’ and, more generally personal privacy.
p.000078: ➢ OPINION N° 107 Opinion on ethical issues in connection with antenatal diagnosis: Prenatal Diag- nosis (PND) and
p.000078: Preimplantation Genetic Diagnosis (PGD). (October 2009)
p.000078: In this Opinion, CCNE considered ethical issues in connection with antenatal diagnosis and preim- plantation diagnosis
p.000078: such as they are practised in France. It came to the conclusion that in the current state of law and practices,
p.000078: limited as they were to particularly severe and incurable dis- eases at the time they were diagnosed, based on
p.000078: free and informed personal consent, with a framework of medical assistance, the expectant mother or the couple’s
p.000078: decision under the cur- rent system was “generally satisfactory”. CCNE also recalled, from the perspective common to
p.000078: proposing preconceptional screening for future parents carriers for the genetic anomalies in ques- tion and to
p.000078: antenatal diagnosis, “the central issue must always be the predictive value of such mu- tations in terms of severity
p.000078: and incurability. Today, this issue stands in the way of rapid generali- sation of such tests.”
p.000078: CCNE was also concerned about allowing these antenatal tests to be marketed, particularly on the Internet, since they
p.000078: would become difficult to control and could lead to “predictive medical tour- ism" becoming the norm with helpless and
p.000078: distraught couples attempting to cope with unvalidat- ed test procedures”.
p.000078: ➢ OPINION N° 109 Society and the communication of scientific and medical information: ethical is- sues. (February
p.000078: 2010)
p.000078: This Opinion was not dealing specifically with genetic data, particularly not with personal data. But it
p.000078: emphasised the need for everyone to appropriate some part of scientific culture and the ef- forts that society was
p.000078: entitled to require from scientists and technicians whose work has an ever swifter and stronger impact on the lives of
p.000078: citizens. The right to information, therefore, is part and parcel of duty to inform.
p.000078: ➢ OPINION N°117 Use of stem cells derived from umbilical cord blood, the umbilical cord itself and the placenta; their
p.000078: storage in biobanks. Ethical issues. (February 2012)
p.000078: This Opinion was concerned with biobanks and the use made of them and with the identification of stored samples.
p.000078:
p.000078:
p.000078:
p.000078:
p.000078:
p.000078: Opinion N° 124
p.000078:
p.000078:
p.000079: 79
p.000079:
p.000079: ➢ OPINION N°120 Ethical issues in Connection with the development of foetal genetic testing on maternal
p.000079: blood. (April 2013)
p.000079: CCNE considered developments in human genomic tools which do not always lead to therapeutic progress. They do inform
p.000079: parents on their future child’s chances of being affected by a particular- ly severe genetic disease or disability and
p.000079: are therefore helpful in providing improved gestation management. They raise a large number of ethical issues however
p.000079: which society must address.
p.000079: CCNE’s thinking was that the ongoing and very rapid developments of human genomic technology can not be disregarded.
p.000079:
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p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079:
p.000079: Opinion N° 124
p.000079:
p.000079:
p.000080: 80
p.000080:
p.000080: C- The international dimension
p.000080:
p.000080: In his 2015 State of the Union Address, the President of the United States confirmed his support for American science
p.000080: and research, in particular for ‘precision medicine’: “Tonight, I’m launching a new precision medicine initiative to
p.000080: bring us closer to curing diseases like cancer and diabetes—and to give all of us access to the
p.000080: personalized information we need to keep ourselves and our families healthier.” 185 This promising systemic
p.000080: medicine is strongly supported by American public opinion. The precision medicine concept put forward by President
p.000080: Obama is similar to ‘4P’ medicine: predic- tive, personalised, pre-emptive/preventive and participative186. It is a
p.000080: step forward from a purely ge- netic contribution, albeit a foundational one, to medical science. This was
p.000080: expressed in October 2012, by the American Presidential Commission for the Study of Bioethical Issues
p.000080: reporting on “...whole genome sequence data” and their “enormous promise to advance clinical care and general health.”
p.000080: It allowed that “While many of the potential benefits arising from whole genome sequenc- ing will accrue to the
p.000080: broader public, the risks associated [...] will be borne disproportionately by the individuals whose data are being
p.000080: shared”.187
p.000080: Many international forums and ethics committees have reflected on the future — which is some- times
p.000080: described as inescapable — of human genetics now that very high throughput DNA sequencing is upon us. Neither a
p.000080: complete list of such studies nor an exhaustive analysis of them has a place in this document. Closer to us are the
p.000080: six reports written by the British Human Genetics Commission188, the Nuffield Council on Bioethics report published in
p.000080: 2010 on medical profiling189, or the Opinion by the Deutscher Ethikrat on the future of genetic diagnosis, in which
p.000080: the German Committee under-
p.000080:
p.000080:
p.000080: 185 “Tonight, I’m launching a new precision medicine initiative to bring us closer to curing diseases like can- cer
p.000080: and diabetes—and to give all of us access to the personalized information we need to keep ourselves and our families
p.000080: healthier.”
p.000080: 186 Elias Zerhouni. Les grandes tendances de l’innovation médicale au XXIème siècle. Inaugural lesson at the Collège
p.000080: de France. 18 May 2011
p.000080: 187 Presidential Commission for the Study of Bioethical Issues, Washington, D.C. Privacy and Progress in
p.000080: Whole Genome Sequencing. October 2012 (http://www.bioethics.gov).
p.000080: 188 The Human Genetics Commission’s final report », April 2012 :
...
p.000080: - Intellectual Property and DNA Diagnostics: A Report of a Seminar on the Impact of DNA Patents on
p.000080: Diagnostic Innovation (October 2010)
p.000080: - Increasing Options, Informing Choice: A Report on Preconception Genetic Testing and Screening (April
p.000080: 2011)
p.000080: - The Concept of Genetic Discrimination: A Seminar Report and Reflections and Recommendations (April
p.000080: 2011)
p.000080: - Incidental Findings Arising from Clinical Genetic Testing: An Expert Workshop (April 2012)
p.000080: 189 Medical profiling and online medicine. The ethics of “personalised healthcare” in a consumer age. Nuffield Council
p.000080: on Bioethics, October 2010.
p.000080:
p.000080:
p.000080:
p.000080: Opinion N° 124
p.000080:
p.000080:
p.000081: 81
p.000081:
p.000081: lines the need to refrain from reducing the definition of ‘quality of life’ to a collection of medical or genetic
p.000081: data190.
p.000081:
p.000081: In view of certain opinions reflecting a degree of fascination for technical and scientific
p.000081: advances in modern human genomics (see one example in the box on this page191) there are
p.000081: recurrent issues concerning the integration of global genome sequencing into clinical medicine as
p.000081: well as on the conservation of access to, and the use made of, sequencing data for research purposes. With
p.000081: the ambition of making science and health policies
p.000081:
...
p.000081: Ethikrat, 2013.
p.000081: 191 "Increasing options, informing choice: A report on preconception genetic testing and screening": Having considered
p.000081: the issues associated with preconception genetic testing, in our view, there are no specific ethical, legal or social
p.000081: principles that would make preconception genetic testing within the framework of a popula- tion screening program
p.000081: unacceptable. Indeed, there are good reasons why earlier testing is favored over later testing, as it facilitates wider
p.000081: patient choice and improved access to information supporting reproductive de- cision-making.
p.000081:
p.000081:
p.000081:
p.000081: Opinion N° 124
p.000081:
p.000081:
p.000082: 82
p.000082:
p.000082: environmental and human traits, or the “Global Alliance for Genomic and Health” whose aim is,
p.000082: rather than generating sequences, to define the regulation and safe pooling of data at a global level.
p.000082:
p.000082: These scientific resources emanate from data supplied by volunteers who authorised the sequencing of their genomes and
p.000082: who are informed of the ethical, legal and technical aspects of the research in which they accepted to participate.
p.000082: The “Global Alliance for Genomics and Health” Working Group on Regulation and Ethics (chaired by Bartha Knoppers,
...
p.000082: protection against those who seek to make improper use of this data which was contributed voluntarily for the
p.000082: public good192.
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082: 192 Record of partners’ meeting to set consortium objectives for 2014.
p.000082:
p.000082:
p.000082:
p.000082:
...
Social / Police Officer
Searching for indicator police:
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p.000069: 171 Ibid.
p.000069: 172 On 24th June 2015, the European Parliament, the Council and the European Commission entered into co-decision
p.000069: negotiations with regard to the proposal for a general regulation on data protection, a proce- dure known as an
p.000069: informal ‘trilogue’. The basis for the negotiation is the Commission’s proposals of Janu- ary 2012, the Parliament’s
p.000069: legislative resolution of 12th March 2014 and the Council’s General Approach adopted on 15th June 2015. The three
p.000069: institutions are committed to dealing with the general regulation as part of the wider reform package on data
p.000069: protection which includes the proposed directive for police and judicial activities. This process should be completed
p.000069: by the end of 2015.
p.000069:
p.000069:
p.000069:
p.000069: Opinion N° 124
p.000069:
p.000069:
p.000070: 70
p.000070:
p.000070: the European Data Protection Supervisor (EDPS) notes that these principles are a reference point, but even
p.000070: more significantly he asserts that respect for human dignity is the basis for any processing of personal data,
p.000070: considering future European rules on personal information as a tool to “safeguard individuals’ fundamental rights and
p.000070: freedoms in the data-driven society of the future”. This reference to human dignity is consequential since the
p.000070: explanations to the Charter of Fundamental Rights took care to state that the “dignity of the human person is not only
...
Social / Racial Minority
Searching for indicator race:
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p.000025:
p.000025: 58 Explanatory report, Dec. 1996, § 4, http://conventions.coe.int/Treaty/FR/Reports/Html/164.htm. The additional
p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
...
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
...
Searching for indicator minority:
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p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
p.000025: health care professionals”.
p.000025: 62 Articles 225-1 to 225-4 of the Code pénal.
p.000025: 63 The draft law also extended the prohibition of discrimination in recruitment, sanctions and dismissals as laid out
...
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
p.000036: In neonatology, geneticists are mainly concerned with diagnosis. It is contained in the singular dialogue between
p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
p.000036: is important to be able to identify the causal genetic defect — or defects. Despite massive progress in the analysis
p.000036: and understanding of the genome, this is only possible in a small minority of cases. Dealing with this challenge is an
p.000036: ‘ethical imperative’ and a response to the legitimate expectations of parents called upon to care for a disabled child.
p.000036: For Arnold Munnich, for whom the primary obligation is to name the dis- ease and identify the molecular foundations,
p.000036: “... the true ethical challenge is: how can I assure my patients that all that science is aware of has been
p.000036: investigated in their particular case? That none of them have suffered any ‘loss of opportunity’? This is a taxing
p.000036: technical and economic problem in view of the fact that a severe disorder, such as mental retardation, autism,
...
Social / Religion
Searching for indicator faith:
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p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
p.000065: But it must be added that discrimination based on the state of health, “when relating to death prevention and coverage,
p.000065: risk of disabling personal injury or of work incapacity or disability” 158 are not punishable so that insurers can
p.000065: legally refuse would-be policy holders by reason of their state of health. This exception is due to the fact that an
p.000065: insurance policy is a ‘contract in good faith’ so that a person seeking insurance is bound to “respond truthfully to
p.000065: questions asked by insurers […] regarding the circumstances enabling the company to evaluate the risks it is
p.000065: underwriting” 159.
p.000065: However, information requested by an insurance company only applies to what is known with certainty at the
p.000065: time the statement is made. For this reason two further rules were adopted: on the one hand, insurers cannot make use
p.000065: of genetic information that candidates for insurance may have spontaneously contributed, nor may they ask them
p.000065: if they have undergone genetic testing or ask them to communicate results of genetic testing and finally
p.000065: they cannot require candidates to undergo genetic testing160; on the other hand, discrimination based on
...
Searching for indicator special:
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p.000035: ‘correlations’ are increasingly easy to establish.
p.000035: In view of these difficulties some scientists and some legal experts believe that, rather than try- ing to prevent
p.000035: information from circulating, we should concentrate on educating DNA donors (sick or in good health)
p.000035: included or not in a cohort, who are willing to have their DNA se- quenced, and work on legislation
p.000035: protecting sequencing data from inappropriate use, as well as on the supervision of such uses.
p.000035: 2- Do the technical advances in genetics leave enough scope for freedom and/or autonomy?
p.000035:
p.000035: Back in 1995, CCNE pointed out the special role played by genetic analysis in its relationship with
p.000035: individuals and their private lives: “...a genetic test implies entry into the intimacy of an indi- vidual, of his
p.000035: body, and the significance he attaches to it in relation to his psychic identity. Fur- thermore, almost
p.000035: constitutional frailties may be revealed, of an innate and non accidental nature, the interpretation of which for the
p.000035: representation of self and the consequences for present and fu- ture life may be of major importance” 89. The
p.000035: Committee’s presentation of the rules and refer- ences was the following: “In medical genetics, some of the ordinary
p.000035: rules of medical ethics also ap- ply. But in view of the specific nature of this domain, it is immediately clear that
...
p.000041: cinema, adver- tising) disseminating information should fight shy of these linguistic deviations and try to con-
p.000041: tribute, each in their own sphere, to respecting the scientific reality of the information that DNA provides us with
p.000041: and, more importantly, the information it will be able to provide in the future.
p.000041: The first and main challenge of genetic information is certainly due to the evolutionary nature of the body of
p.000041: knowledge provided by very high throughput sequencing since the time of the earli-
p.000041:
p.000041:
p.000041: 99 Kass NE, et al. (2013). The Research-Treatment Distinction: A Problematic Approach for Determining Which
p.000041: Activities Should Have Ethical Oversight. Ethical Oversight of Learning Health Care Systems, Has- tings Center Report
p.000041: Special Report; 43: S4-S15.
p.000041: 100 Doolittle WF et al. (2013). Sixty years of genome biology. Genome Biology; 14:113-120.
p.000041:
p.000041:
p.000041:
p.000041: Opinion N° 124
p.000041:
p.000041:
p.000042: 42
p.000042:
p.000042: est decoding of human DNA sequences, barely more than ten years ago. This is true of the knowledge
p.000042: itself and of its applications, medical applications in particular. Information explora- tion is now an integral part
p.000042: of progress in genomics101.
p.000042: Another challenge presented by this genetic information is that it is expected to be a normative basis for health and
p.000042: behaviour although there is not anywhere in the world a human community which voluntarily defines or accepts such a
p.000042: norm.
...
p.000051: medical advisor has any say on the matter, de- prives the doctor who is the direct counterpart in the dialogue
p.000051: with the expectant mother or the couple, of any power of judgment and any possibility of responding in detail to the
p.000051: numerous ques- tions that the results of the procedure are bound to prompt. The doctor would be disempowered at a time
p.000051: when he or she would still be responsible for providing not only pregnancy follow up but also the follow up of the
p.000051: child’s life after birth.” What is true for a prenatal diagnosis, is even more ap- plicable to all the facets of
p.000051: ‘genetic medicine’.
p.000051: As discussed above, the evolutionary nature of the information provided by large scale DNA se- quencing puts physicians
p.000051: in a special position where they must answer to their patients but also to scientific progress, where they are both
p.000051: clinicians and partners in research. One important consequence of the diversity and complexity of medical data is the
p.000051: risk that physicians become ‘incapable’ of understanding the data they receive and therefore unable to report
p.000051: and explain them to their patients.
p.000051: Genetic data being a subject for research, this means that it opens up horizons at least as much as it provides
p.000051: answers, thus creating a certain amount of perplexity: we are not sure where all this is taking us. Our thinking on
p.000051: the subject should therefore enable us to single out the issues to which physicians obviously, but also educators
...
p.000052: be exploiting them will have such consequences on the con- cept of privacy that we must review our thinking on this
p.000052: subject.
p.000052: 1-Legal protection for personal data
p.000052:
p.000052: Once again, we have to point out that, in the main, the management of genetic data (DNA se- quences)
p.000052: is part of a more general picture, that of personal data, health data in particular, which is stored in huge quantities
p.000052: and constantly shared, be it in the form of identifiers and banking particulars for example, or medical files, among
p.000052: others those stored by the French public health care system, although the special case of the ‘shared medical record’
p.000052: is one particularly sensitive aspect of the problem117. Because of the duty of confidentiality, no health care
p.000052: professional can publish information concerning a third party, even when the person concerned has already pub- lished
p.000052: the information.
p.000052: Since personal medical data is already protected, there is no overriding reason why human ge- nome sequencing should be
p.000052: made an exception to the general principles applicable to medical care as defined in articles 6 and 7 of the law dated
p.000052: January 6, 1978:
p.000052: • Purpose (legitimate and specific);
p.000052: • Proportionality (recording only pertinent and necessary information);
...
p.000068: The increase in both national and international flows of personal data transiting through automated processing led to
p.000068: extending protection, beyond national frontiers, to the circulation of personal data throughout Europe. This was the
p.000068: objective pursued by Convention n° 108 for the Protection of Indi- viduals with regard to Automatic Processing
p.000068: of Personal Data, dated January 28th 1981166 which sought to “extend the safeguards for everyone’s rights and
p.000068: fundamental freedoms, and in particular the right to the respect for privacy, with regard to automatic processing of
p.000068: personal data relating to him”. It moreover created a specific form of treatment for “special categories of data”,
p.000068: data con- cerning health in particular, which “may not be processed automatically unless domestic law pro-
p.000068: vides appropriate safeguards”.
p.000068: Later, the adoption of Directive 95/46/EC of October 24th 1995, on the protection of individuals with regard to the
p.000068: processing of personal data and on the free movement of such data, sought to harmo- nise the regulations of member
p.000068: states as regards personal data so as provide an equivalent and high
p.000068:
p.000068:
p.000068:
p.000068:
p.000068:
p.000068: 164 This 2010 study showed that prenatal diagnosis is largely acceptable (explicitly or implicitly) in the
p.000068: countries responding to the questionnaire, with the exception of Ireland. Preimplantation diagnosis is ex- pressly
...
p.000082:
p.000082: These scientific resources emanate from data supplied by volunteers who authorised the sequencing of their genomes and
p.000082: who are informed of the ethical, legal and technical aspects of the research in which they accepted to participate.
p.000082: The “Global Alliance for Genomics and Health” Working Group on Regulation and Ethics (chaired by Bartha Knoppers,
p.000082: McGill University, Montreal, Canada) has set itself the objective of elaborating an international Code of Conduct for
p.000082: the pooling of genomic and clinical data. The code is intended to define a set of ethical principles to research and
p.000082: share genomic and clinical data with special empha- sis on key issues such as free and informed consent,
p.000082: confidentiality, feedback to patients and partici- pants in research, data conservation and access. It defines
p.000082: protection against those who seek to make improper use of this data which was contributed voluntarily for the
p.000082: public good192.
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
p.000082:
...
Searching for indicator religion:
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p.000025: protocol concerning genetic testing for health purposes of May 7,
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
...
Searching for indicator religious:
(return to top)
p.000052: • Respect for personal rights (informing those concerned and the right to object; rights of ac- cess and correction
p.000052: for those concerned; express agreement and resulting right to oppose re-
p.000052:
p.000052:
p.000052:
p.000052: 117 Cf. CCNE, Opinion N° 104 : The “Personal Medical Record” and computerisation of health-related data (2008).
p.000052:
p.000052:
p.000052:
p.000052: Opinion N° 124
p.000052:
p.000052:
p.000053: 53
p.000053:
p.000053: cording - except if recording is mandatory; the right to oblivion; prohibition of ‘profiling’ ac- cording to ethnic,
p.000053: religious or sexual orientation criteria; penalties in the event of a breach).
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
...
Social / Social
Searching for indicator social:
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p.000026: scientific uncertainty?
p.000026: ........................................................................................................................
p.000026: .....p. 32
p.000026: B. The genome: where personal privacy, the heritage and common property converge ......................... p. 34 1-
p.000026: Can sequencing data be made anonymous?
p.000026: ...................................................................................... p. 34 2- Do the technical
p.000026: advances in genetics leave enough scope for freedom and/or autonomy? .......... p. 35 3- From diagnosis to screening,
p.000026: from the individual to the community ................................................ p. 36 4- Preconception screening,
p.000026: between individual liberty and social constraint ..................................... p. 37 5- Will predictive
p.000026: genomics generate behavioural responsibility? ....................................................... p. 39
p.000026: C. The genome at the boundary between information and consent
p.000026: ......................................................... p. 41
p.000026: 1- The ethical challenges of genetic data
p.000026: ................................................................................................ p. 41
p.000026: 2- Misuse of genetic information and consequential risks
p.000026: .................................................................... p. 42
p.000026: 3- Psychological risks
p.000026: ........................................................................................................................
p.000026: ....... p. 43
...
p.000019: 40 dbGaP, The database of Genotypes and Phenotypes (dbGaP) was developed by the NIH (USA) to archive and distribute
p.000019: the results genotype-phenotype correlation financed by NIH. The database is managed by NIH; the 1000
p.000019: Genomes Project has a database open to public access.
p.000019: (http://www.1000genomes.org/data- #DataAccess)
p.000019:
p.000019:
p.000019:
p.000019: Opinion N° 124
p.000019:
p.000019:
p.000020: 20
p.000020:
p.000020: culty of data protection41. The risk seems even greater in the very buoyant field of data sharing over the internet
p.000020: and social networks. Protecting personal and public data versus restricted ac- cess to databases which are no longer
p.000020: confined to national frontiers is currently one of the main areas of ethical issues to be considered42, with certain
p.000020: currents of opinion to the effect that “… the ethics norms that govern clinical research are not suited for the wide
p.000020: range of data privacy and consent issues in today's social networks and bioinformatics systems” 43.
p.000020: Reflection on the management of large bodies of data (‘big data’) is increasingly conspicuous on the international
p.000020: scene. The Council of Europe, for example, is reflecting on ethical issues arising out of ‘big data’ connected
p.000020: medicine, this subject extending far beyond the confines of genetic data derived from very high throughput human DNA
p.000020: sequencing. One of the characteristics of this trend is that the main operators are big concerns (Google, Amazon,
p.000020: Facebook and Apple, for example) who have no traditional history of working with physicians and biologists.
p.000020: Another characteristic is that the resources required to process and store such data is such that it pre- selects a
p.000020: small number of corporations who are equipped for the task, thus creating both a con- centration of power nearing
...
p.000020: person- algenomes.org/data/PGP12.05/)
p.000020: 42 “Use it or lose it” as an alternative approach to protect genetic privacy in personalized medicine. Wagner JK,
p.000020: Mozersky JT, Myeritz RE. 2014. Urol. Oncol.; 32: 98-101.
p.000020: 43 Knoppers BM. “Consent to personal genomics and privacy”. 2010. EMBO rep.; 11: 416-419.
p.000020:
p.000020:
p.000020:
p.000020: Opinion N° 124
p.000020:
p.000020:
p.000021: 21
p.000021:
p.000021: Moving from genetics focusing on disease to genetics focusing on health, defined as being a complete
p.000021: state of physical, mental and social well-being44, places human genomics in a new con- text. This is no longer a
p.000021: simple change in scale, albeit a major change in scale, and it leads to a not unreasonable expectation of medicine
p.000021: targeting the genome, or ‘precision’ medicine, still frequently and loosely designated by the name ‘personalised
p.000021: medicine’.
p.000021: There must be a clear distinction between constitutional genetic modifications, those which were present in
p.000021: the one-celled egg — or zygote — and will therefore be found in every cell of the body, and ‘somatic’ modifications
p.000021: which are acquired by a few cells during the course of the life of an organism, such as for instance in cancer genesis.
p.000021: The first category of modifications are present in the gametes and often inherited from ances- tors (they may also be
...
p.000023: community support. The main motivation in the United States for those paying for such testing is to know
p.000023: more about their ancestry “Bring your ancestry to life” says the 23andMe website, and trace your “lineage” through
p.000023: genetic links. In the genealogical indication — unlike medical prediction — results are robust, but they use other
p.000023: markers. Advertising for these studies is aimed directly at the con- sumer, and the sale of tests and communication
p.000023: of results is addressed directly to the consumer. Usually, members of the medical professions do not play any
p.000023: role. This does lead to health-
p.000023: related, economic and social risks and
p.000023:
p.000023: raises ethical issues.
p.000023:
p.000023: Another use for DNA is what English- language literature calls forensic DNA phenotyping, i.e. the
p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
p.000023: Predisposed to violence?
p.000023:
p.000023: The late 19th century theories on ‘born criminals’ have trig- gered controversy and debate between studies claiming to
...
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
...
p.000025: 2008(http://conventions.coe.int/Treaty/FR/Treaties/Html/203.htm) is not applicable in France since it has not yet,
p.000025: unlike the Oviedo Convention, been ratified by France.
p.000025: 59 Article 16-4 of the Code civil: “... No one is permitted to violate the integrity of the human species. Any eu-
p.000025: genic practice with a view to organising a selection of persons is prohibited.”
p.000025: 60 Based on “..."sex, race, colour, language, religion, political or other opinion, national or social origin, as-
p.000025: sociation with a national minority, property, birth or other status"
p.000025: 61 Article 1 of the draft law on bioethics, AN n° 3166, 25 June 2001, 61-62. It noted in its considerations the risk
p.000025: of increased discriminatory use of the results of genetic tests by insurers or in employment con- tracts,
p.000025: “predisposition to pathologies which could be the subject of revelation being increasing numerous by reason of progress
p.000025: in genetic testing and the arrival of offers for testing accessible without medical prescrip- tion or implementation by
p.000025: health care professionals”.
p.000025: 62 Articles 225-1 to 225-4 of the Code pénal.
...
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
p.000026: scientific progress. It marks the end of mass medicine and the beginning of almost bespoken medi- cine; the
p.000026: replacement of so-called blockbuster medication catering for a specific pathology regard- less of the heterogeneity of
...
p.000026:
p.000026:
p.000027: 27
p.000027:
p.000027: consideration to make future personal decisions regarding behaviour and lifestyle, despite doubts about the
p.000027: information and the difficulty of its interpretation.
p.000027: It is true that, despite this uncertainty and the difficulty in interpreting genetic data, the unvary- ing nature of
p.000027: people’s DNA sequence throughout their whole life may give them the impression that such a sequence represents a firm
p.000027: rock foundation for their personality, even though it is equally true that human beings cannot be reduced to their sole
p.000027: biology and even less to their ge- netic makeup. And yet, as part of a person’s self, sharing their genetic portion
p.000027: can be, and is in fact claimed as a right, at a time when social networks on the Internet are significantly modifying
p.000027: the boundaries of ‘privacy’ 67, so that what certain currents of opinion describe as ‘recreational genomics’,
p.000027: essentially representing access to the discovery of one’s origins, family ties and gene- alogy, is publicly available
p.000027: on forums; in this way, the notion of ‘family reunion’ seems close, in this respect, to that of ‘friend’ on certain
p.000027: social networks.
p.000027: Nevertheless, the rigorous parting of ways between recreational and medical aspects is not so easy to order. There is
p.000027: a degree of ambivalence insofar as recreational activities may be very rapidly challenged by more or less
p.000027: significant genetic discoveries, with varying measures of medical predictive potential.
p.000027: 2- Increasing merchandisation of technology
p.000027:
p.000027: Although at this point we have only a partial view of the way in which genetic factors influence the risk of what we
p.000027: call common ailments, we are already seeing massive financial investment in molecular genomic centres which are
p.000027: infrastructures aiming to improve the efficiency and above all the quality of their clients’ DNA acquisition and
...
p.000031: making more of an effort (ac- quiring data, research, asking experts, accelerating trials, etc.) 76.
p.000031: Do the uncertainty and the risk match? For there to be a risk, there must be something un- known
p.000031: about an item or its outcome; there must therefore be some uncertainty — but for this to be a risk for those concerned,
p.000031: they need to know about it: either that the uncertainty is ‘real’,
p.000031:
p.000031:
p.000031: 74 Such information, the outcome of various genetic studies, in particular in the framework of research ac- tivities,
p.000031: corresponds to a highly mobile scientific, medical and social object as it keeps pace with the rapid- ly progressing
p.000031: genetic sciences.
p.000031: 75 O’Rawe JA, Ferson S, Lyon GJ. Accounting for uncertainty in DNA sequencing data. Trends in
p.000031: Genetics. 2015; 31: 61-66.
p.000031: 76 Felipe Aguirre F., Sallak M., Schön W. Incertitudes aléatoires et épistémiques, comment les distinguer et les
p.000031: manipuler dans les études de fiabilité ? 10ème Congrès International Pluridisciplinaire en Qualité et Sûreté de
p.000031: Fonctionnement: QUALITA 2013
p.000031:
p.000031:
p.000031:
p.000031: Opinion N° 124
p.000031:
p.000031:
p.000032: 32
p.000032:
p.000032: meaning that the knowledge available is insufficient to dispel it; or that they can or must have access to a
p.000032: significant numerical representation of that uncertainty77.
...
p.000033: necessity (need to solve a clinical problem) and its propor- tionality (balance between advantages and
p.000033: drawbacks for a patient). When full sequencing is authorised, strict protocol must guide deci- sions to be
p.000033: taken regarding unsolicited discover- ies83.
p.000033: The Presidential Commission for the Study of Bi-
p.000033: "Genetics and Medicine: from Prediction to Prevention"
p.000033: CCNE Opinion N° 46 - 30 October 1995
p.000033:
p.000033: Genetic tests give information on the identity of persons and emphasise their diversity which con-
p.000033: tributes to the rich nature of humankind. To use such information for the purpose of selection or of
p.000033: discrimination in social or economic terms, be that in the realm of public health policies, employment, or insurance
p.000033: systems, would be crossing a boundary of the most extreme gravity and would question those principles of
p.000033: equality of rights, dignity and sol- idarity for all human beings upon which society as we know it is based.
p.000033: The CCNE insists on the neces- sity of observing those fundamental principles whatever aims may be
p.000033: pursued by genetic testing. Human Rights are at stake.
p.000033: oethical Issues in the United States and the European Society of Human Genetics emphasised the need to initiate a
p.000033: shared decision process with patients regarding the confines within which ge- netic testing results would be
...
p.000034: occurring is still very low at this point in time. Databases are filling up, day after day, with huge quantities of
p.000034: sequences. To have these sequences available is essential if we are to make progress on their interpretation and
p.000034: therefore on our fundamental knowledge of the genome and the link between genome varia- tion and health risks. In
p.000034: most case, individual contributions are voluntary and are not seen a priori as a threat to anonymity, even though
p.000034: there may be some ambiguity between research and clinical use as regards ‘free and informed’ consent. But it should be
p.000034: noted that a similar situation exists in the use made of social networks on the Internet, which collect impressive
p.000034: quantities of personal data, photographic data in particular. In the same way as concealing one’s name be- hind a
p.000034: pseudonym or an avatar is no guarantee of anonymity, the relative efficacy if not down- right fragility of DNA
p.000034: sequencing anonymisation is anything but infallible protection of private data.
p.000034: With regard to genetic data, DNA sequencing components do not always contain biological in- formation of any great
p.000034: intrinsic significance. There has to be the possibility of combining them with medical or non medical phenotypic
p.000034: data. This is where the threat to anonymity is the
p.000034:
...
p.000036: assistance, counselling and care must continue so that the systematic offer to diagnose […] in no way suggests to
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
p.000036: In neonatology, geneticists are mainly concerned with diagnosis. It is contained in the singular dialogue between
p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
...
p.000037: no direct benefit to the child concerned. There is no cause to confine a human being to his or her genetic status with
p.000037: the risk it entails of sacralising the gene.”
p.000037: With the possibility of everyone having their genome sequenced at birth appears the supple- mentary risk
p.000037: that the sequence could be analysed again and again throughout life, with as a con- sequence a constant flow of
p.000037: new information, potentially undesirable, being supplied or even foisted onto the person concerned.
p.000037: 4- Preconception screening, between individual liberty and social constraint
p.000037:
p.000037: Preconception screening opens the way for couples to access data on hereditary pathologies be- fore they conceive.
p.000037: In this country, preconception screening currently concerns couples pre- senting the risk of a monogenic
p.000037: hereditary disease. It takes place as part of a genetic counselling
p.000037:
p.000037:
p.000037: 92 Issues related to prenatal diagnosis and screening were examined in detail in two recent Opinions pub- lished by
p.000037: CCNE, N° 107 (2009) “On Ethical Issues in Connection with Antenatal Diagnosis: Prenatal Diagno- sis (PND) and
p.000037: Preimplantation Genetic Diagnosis (PGD)”, and N° 120 (2013) on “Ethical Issues in Connection with the Development of
p.000037: Foetal Genetic Testing on Maternal Blood”, to which the reader may wish to refer.
...
p.000041: of its intimate con- nection to ongoing, systematic learning.”99
p.000041: 1- The ethical challenges of genetic data
p.000041:
p.000041: DNA is often described at the ‘information molecule’, and while we have observed that it is not the sole custodian of
p.000041: the molecular bases of life and its regulatory mechanisms, it is one of its mainstays. The information contained in
p.000041: DNA is not immediately apparent. Just reading a se- quence is not sufficient to understand its message; a lengthy
p.000041: process of comprehension100 and appropriation is required to achieve this goal and it is very tempting to cut a few
p.000041: corners.
p.000041: DNA is a subject that fascinates. As mentioned above, there is a tendency to endow it with ex- travagant powers with,
p.000041: as a result, attempts at making it responsible for embarrassing social be- haviours. It has become commonplace to
p.000041: quote DNA in vain to qualify the essence of something that no one wants to qualify differently any longer, in a
p.000041: metaphoric sense, such as ‘the company DNA’, or more ambiguously, ‘DNA of a population’. The media (television, radio,
p.000041: cinema, adver- tising) disseminating information should fight shy of these linguistic deviations and try to con-
p.000041: tribute, each in their own sphere, to respecting the scientific reality of the information that DNA provides us with
p.000041: and, more importantly, the information it will be able to provide in the future.
p.000041: The first and main challenge of genetic information is certainly due to the evolutionary nature of the body of
p.000041: knowledge provided by very high throughput sequencing since the time of the earli-
p.000041:
p.000041:
...
p.000047: technological progress with faster, cheaper and more reli- able analyses has become feasible thanks to considerable
p.000047: investment in cognitive research, par- ticularly by the public sector, together with technological breakthroughs
p.000047: brought about by the activities of the private sector. This represents an unprecedented opportunity for accelerating
p.000047: and augmenting our grasp of the living world and for improving the help we are able to give to those who are victims of
p.000047: its dysfunctions.
p.000047: As a result, what seemed to be no more than a technical process, i.e. full genome analysis, could challenge
p.000047: well-established practices or concepts, both medical and social, or could enter into conflict with
p.000047: national or international rules and regulations based on accepted values, thus opening a vast area of ethical
p.000047: debate.
p.000047: Some of these developments aim primarily at improving people’s health and will probably achieve their goal.
p.000047: They also meet a legitimate need for autonomy; attempts to curb their pro- gress to protect people are doomed to
p.000047: failure. And yet, certain relatively foreseeable social de- velopments and risks arising out of genomic analysis
p.000047: should be the subject of the community’s consideration without further delay in order to avoid or minimise them, or
p.000047: take compensatory measures.
p.000047: CCNE would like such consideration to be given to the important subjects for which the ‘genetic revolution’, as it is
p.000047: sometimes called, plays a major role: medical practices, free and informed consent, privacy. We may indeed
p.000047: be faced with a genetic revolution, but this is a change of scale rather than a hitherto unknown set of circumstances.
p.000047: Questions such as “How should the right not to know be respected?” or “What should be done about incidental findings”
...
p.000050: revealed and its possi- ble clinical expression and, if necessary, to anticipate such expression. But does it also
p.000050: make a decisive contribution to preventive medicine, be it for individuals or for the public health sys- tem? 116
p.000050: From the point of view of public health, empowering individuals and encouraging risk-reducing lifestyles, thus
p.000050: lessening the likelihood of pathological outcomes, is of value. But individualising preventive strategies according
p.000050: to the genetic characteristics of people who are more or less likely to develop some medical condition or
p.000050: another involves a risk of social inclination to dis- criminate or encroach on individual liberties, particularly
p.000050: in a context where reducing health
p.000050:
p.000050:
p.000050: 115 “Health is a state of complete physical, mental and social well-being and not merely the absence of dis- ease or
p.000050: infirmity.” Preamble to the Constitution of the World Health Organization as adopted by the In- ternational Health
p.000050: Conference, New York, 19-22 June 1946.
p.000050: 116 Etienne JC, Corne C. Les enjeux de la prévention en matière de santé. 2012. Avis du
p.000050: Conseil économique, social et environnemental.
p.000050:
p.000050:
p.000050:
p.000050: Opinion N° 124
p.000050:
p.000050:
p.000051: 51
p.000051:
p.000051: care expenditure is widely viewed as inevitable. Exploiting this data in terms of risk, with an eye on public health
p.000051: policy, on a country-wide scale, does not signify that it brings with it direct indi- vidual benefit in terms of
p.000051: prevention and therefore of health. What information does the ‘full’ genome today, and the ‘full’ phenotype tomorrow,
p.000051: provide for the individual?
p.000051: 5- The physician’s place and role
p.000051:
...
p.000053: 2- Limitations on the use made of personal data
p.000053:
p.000053: Choosing, for whatever reason, to have your genome sequenced118, and being obliged to do so, for yourself or for
p.000053: the sake of your child, are two very different things. The dividing line is drawn by answering the
p.000053: question ‘Who decides and how?’ As regards the protection of privacy, an increasing number of people wish to be
p.000053: ‘transparent’. But to be willing to make one’s genetic data public is not equivalent to giving up the right to refuse
p.000053: to do so, even though, and possibly even more so, if there is a form of social pressure, or even a fashionable trend
p.000053: that this is the way to go for those who wish to have a responsible attitude towards their own health and wish to do
p.000053: their bit in the name of improving public health. Holding a genetic ID card seems to be gratifying and harmless, but
p.000053: in the same way as social networks have blurred the distinction between pub- lic and private, a day may come when the
p.000053: holder regrets having published information based on data that can be interpreted, and even interpreted again at a
p.000053: later date and whose nuisance po- tential was not suspected initially.
p.000053: Protection of privacy protects individuals from unwarranted revelations, sources of knowledge by the public of facts of
p.000053: a private nature and incursions on their dignity or liberty119. The right to data self-determination, a concept
p.000053: defined by the German Constitutional Court in 1983, should be promoted; it is not a right of ownership in the
...
p.000055:
p.000055:
p.000055: 124 Law and technology do not follow the same timetable.
p.000055:
p.000055:
p.000055:
p.000055: Opinion N° 124
p.000055:
p.000055:
p.000056: 56
p.000056:
p.000056: to all as part of a democratic debate which the Committee highly recommends.
p.000056:
p.000056: 5- Reconciling shared data and privacy
p.000056:
p.000056: Confronted with public heath issues, individuals may choose to revise their criteria for the rig- orous protection of
p.000056: their privacy, in particular by deciding to reveal information on their per- sonal health, which is what they do
p.000056: already on certain forums and social networks. Let us not forget that some medical data, genetic data particularly,
p.000056: also concerns next of kin and is situated at the outer confines of what can be considered to be individual data.
p.000056: If there is no contract stipulating reciprocal rights between the individual concerned and the organism charged with
p.000056: collecting the personal data, the potential for damage to the individual’s privacy is too serious for it to remain
p.000056: unobstructed. Inversely, a form of reciprocity could be drawn up by the authori- ties regarding the individual’s right
p.000056: to transparency and to be fully informed of any use made by the authorities of personal data and the way in which they
p.000056: intend to protect the data and control its use. The right of the individual to demand the removal of stored data would
...
p.000058: prevention in personal and public health, in particular those connected to large- scale high-throughput DNA sequencing.
p.000058: This role is both the cause and the consequence of using a very powerful technology capable of increasing the knowledge
p.000058: we already have or wish to acquire about our heredity and, more gen- erally, of our physiology, before its
p.000058: biotechnological or medical application. In view of the em- phasis on medical applications, CCNE must stress
p.000058: that it is now well established that major health determinants, and therefore the major determinants of public
p.000058: health prediction are relat- ed to lifestyle, most particularly in the social and economic conditions affecting
p.000058: people’s lives.
p.000058: 127,128
p.000058:
p.000058: To be sure, where individual health is involved and, in a given environmental context, the pre- dictive value of
p.000058: certain genetic determinants based on rigorous scientific facts, can be significant and pave the way for preventive
p.000058: measures, some of which may be effective. Is there not a dan- ger that genetics may take over the already
p.000058: limited attention granted to prevention in public health policies? 129
p.000058: Investigating the actual portent of defects in our genes and DNA sequences and how they could affect life expectancy is
p.000058: a legitimate enterprise, as long as we remember that life expectancy de- pends primarily on social, non-genetic
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
p.000058: 127 “Closing the gap in a generation. Health equity through action on the social determinants of health.” Fi- nal
p.000058: Report of the Commission on Social Determinants of Health. World Health Organization 2009. ISBN 978 92 4 256370 2.
p.000058: 128 Marmot M. 2010. “Fair society, healthy lives”. Strategic review of health inequalities in England
p.000058: post- 2010.
p.000058: 129 It is worth noting that only 2.24% of current health expenditure was spent on prevention in France in 2014.
p.000058: http://www.irdes.fr/enseignement/chiffres-et-graphiques/depenses-de-sante/depense-courante-de- sante.html
p.000058:
p.000058:
p.000058:
p.000058:
p.000058: Opinion N° 124
p.000058:
p.000058:
p.000059: 59
p.000059:
p.000059: ties due to people’s professions or where they live.
p.000059:
...
p.000059: and public health policy130, both of which are inseparable from health care.
p.000059:
p.000059:
p.000059:
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p.000059:
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p.000059:
p.000059: 130 Public health policy can help to modify the social and economic determinants of health whereas clinical medicine
p.000059: is, more often than not, ineffective in this respect.
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: Opinion N° 124
p.000059:
p.000059:
p.000060: 60
p.000060:
p.000060: V / Annexes
p.000060: A. Analysis of the legal context
p.000060:
p.000060: 1- Examination of genetic characteristics
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
...
p.000065: must not be demanded by insurers.
p.000065: 2- Prenatal diagnosis
p.000065:
p.000065: A prenatal diagnosis is genetic; it applies predictive medicine to foetuses and embryos, but with the possible
p.000065: consequence of voluntary termination of pregnancy for medical reasons, hence the gradual-
p.000065:
p.000065:
p.000065:
p.000065: 157 Article 225-1 of the Code Pénal (criminal code)
p.000065: 158 Article 225-3 of the Code Pénal.(criminal code)
p.000065: 159 Article L. 113-2-2° of the code des assurances (insurance code)
p.000065: 160 Article L. 1141-1 of the Code of Public Health. The same rule is reiterated in the code des assurances
p.000065: (Article L. 133-1 of the code des assurances), as also in the code de la sécurité sociale (French social security code)
p.000065: as applicable to pension funds (Article L. 932-39 du code de la sécurité sociale), and in the code de la mutualité for
p.000065: mutual health insurance systems as define by that code (Article L. 112-4 of the code de la mutualité).
p.000065: 161 Article 225-3 1° of the Code Pénal. (criminal code)
p.000065:
p.000065:
p.000065:
p.000065: Opinion N° 124
p.000065:
p.000065:
p.000066: 66
p.000066:
p.000066: ly acceptable possibility of using embryonic cells for diagnosis before the embryo is implanted in the womb.
p.000066: Prenatal diagnosis began in 1972 with amniocentesis to diagnose prenatally a chromosomal anoma- ly: trisomy 21. This
p.000066: technique was quoted in support of the authorisation for voluntary termination of pregnancy for therapeutic reasons
...
p.000081: advances in modern human genomics (see one example in the box on this page191) there are
p.000081: recurrent issues concerning the integration of global genome sequencing into clinical medicine as
p.000081: well as on the conservation of access to, and the use made of, sequencing data for research purposes. With
p.000081: the ambition of making science and health policies
p.000081:
p.000081: Increasing options, informing choice: A report on precon- ception genetic testing and screening
p.000081: The Human Genetics Commission – April 2011
p.000081: Having considered the issues associated with preconception genetic testing, in our view, there are no specific ethical,
p.000081: le- gal or social principles that would make preconception ge- netic testing within the framework of a population
p.000081: screen- ing programme unacceptable. Indeed, there are good rea- sons why earlier testing is favoured over later
p.000081: testing, as it facilitates wider patient choice and improved access
p.000081: to information supporting reproductive decision-making.
p.000081: sufficiently flexible and astute for them not to inhibit the capacity for adapting to an evolving
p.000081: technology and social standards for privacy, a number of ethics committees, in particular in the English
p.000081: speaking world, are seeking to draft recommendations with the aim of providing a framework and a set of good practices
p.000081: and thereby the means with which to manage science and technology as they apply to health policies, both public and
p.000081: individual. A remaining doubt, however, is whether such ambitions are altogether realistic.
p.000081: As they apply to whole populations, in particular as regards health (predictive medicine) the rules for good practices
p.000081: and the legislation in individual countries still no doubt have meaning, but are they still useful at a time when the
...
p.000081: to differentiate a ‘normal’ variant from a ‘pathological’ one, and thereby understand the concept of individual
p.000081: variability as compared to a norm, often very difficult to define (let us remember that the very concept of
p.000081: ‘normal’ DNA is an absurdity). We are referring here to projects like the “Personal Genome Project” (PGP) whose
p.000081: purpose is to arrive at sequencing data on genomic,
p.000081:
p.000081: 190 Die Zukunft der genetischen Diagnostik – von der Forschung in die klinische Anwendung. Deutscher
p.000081: Ethikrat, 2013.
p.000081: 191 "Increasing options, informing choice: A report on preconception genetic testing and screening": Having considered
p.000081: the issues associated with preconception genetic testing, in our view, there are no specific ethical, legal or social
p.000081: principles that would make preconception genetic testing within the framework of a popula- tion screening program
p.000081: unacceptable. Indeed, there are good reasons why earlier testing is favored over later testing, as it facilitates wider
p.000081: patient choice and improved access to information supporting reproductive de- cision-making.
p.000081:
p.000081:
p.000081:
p.000081: Opinion N° 124
p.000081:
p.000081:
p.000082: 82
p.000082:
p.000082: environmental and human traits, or the “Global Alliance for Genomic and Health” whose aim is,
p.000082: rather than generating sequences, to define the regulation and safe pooling of data at a global level.
p.000082:
...
Social / Threat of Stigma
Searching for indicator threat:
(return to top)
p.000010: not be ignored: how far is too far?
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p.000010:
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p.000010:
p.000010:
p.000010: manageable by traditional and individual publishing and archiving methods. Bioinformatics and data banks
p.000010: are an additional threat on privacy and data protection.
p.000010: 11UNESCO Courier, May 2002. It is worth noting that the primary purpose of this publication is to promote UNESCO ideals
p.000010: and serve as a platform for dialogue between different cultures.
p.000010:
p.000010:
p.000010:
p.000010:
p.000010: Opinion N° 124
p.000010:
p.000010:
p.000011: 11
p.000011:
p.000011: II/ How does the current context modify ethical reflection on human genomics?
p.000011: A- The scientific context
p.000011:
p.000011:
p.000011: We have known for seventy years that DNA is the main carrier of hereditary traits and in 2003 the first whole
p.000011: human DNA (nuclear) sequence was established. Techniques for achieving this results have evolved in almost
...
p.000034: illustrates what the theory and practice of forensic medicine implies: DNA sequencing is unique to an individual and
p.000034: could therefore identify that individual if sequencing and personal data were accessible, although the risk of this
p.000034: occurring is still very low at this point in time. Databases are filling up, day after day, with huge quantities of
p.000034: sequences. To have these sequences available is essential if we are to make progress on their interpretation and
p.000034: therefore on our fundamental knowledge of the genome and the link between genome varia- tion and health risks. In
p.000034: most case, individual contributions are voluntary and are not seen a priori as a threat to anonymity, even though
p.000034: there may be some ambiguity between research and clinical use as regards ‘free and informed’ consent. But it should be
p.000034: noted that a similar situation exists in the use made of social networks on the Internet, which collect impressive
p.000034: quantities of personal data, photographic data in particular. In the same way as concealing one’s name be- hind a
p.000034: pseudonym or an avatar is no guarantee of anonymity, the relative efficacy if not down- right fragility of DNA
p.000034: sequencing anonymisation is anything but infallible protection of private data.
p.000034: With regard to genetic data, DNA sequencing components do not always contain biological in- formation of any great
p.000034: intrinsic significance. There has to be the possibility of combining them with medical or non medical phenotypic
p.000034: data. This is where the threat to anonymity is the
p.000034:
p.000034: 84 “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
p.000035: link between such information and that derived from genomic analysis, which is not in essence anonymous, is obviously a
p.000035: risk to the integrity of anonymity. It would not even be unthinkable to suppose that a link between such information
p.000035: and the exist- ence of a biological sample stored in a biobank86, whose DNA could be sequenced at any time87, is also a
p.000035: threat to anonymity88.
p.000035: Currently, the dispersion of data files, despite their constantly growing numbers, seems to pro- tect against this
p.000035: threat. They are, however, increasingly easy to interconnect, in particular with the help of the computerised
p.000035: technology being developed and now capable of managing massive quantities of data (‘big data’), so that genetic
p.000035: ‘correlations’ are increasingly easy to establish.
p.000035: In view of these difficulties some scientists and some legal experts believe that, rather than try- ing to prevent
p.000035: information from circulating, we should concentrate on educating DNA donors (sick or in good health)
p.000035: included or not in a cohort, who are willing to have their DNA se- quenced, and work on legislation
p.000035: protecting sequencing data from inappropriate use, as well as on the supervision of such uses.
...
p.000068: in national legislation from one country to another164.
p.000068: 3- Protection of personal data
p.000068:
p.000068: Rules protecting personal data have evolved with technological developments. Beginning with the French law n° 78-17
p.000068: of 6th January 1978 on Information Technology, Data Files and Civil Liberty, they mainly applied to manual and
p.000068: computerised data banks set up by government departments165. With particular emphasis on the defence of public
p.000068: liberties, its first article proclaims that: information technology must be at the service of each and every
p.000068: citizen. […]. It must not be a threat to human identity, to human rights, to privacy, nor to individual and
p.000068: public liberties. But very soon after its adoption, the predominant issues debated were those arising out of
p.000068: the development of databases created by private enterprise.
p.000068: The increase in both national and international flows of personal data transiting through automated processing led to
p.000068: extending protection, beyond national frontiers, to the circulation of personal data throughout Europe. This was the
p.000068: objective pursued by Convention n° 108 for the Protection of Indi- viduals with regard to Automatic Processing
p.000068: of Personal Data, dated January 28th 1981166 which sought to “extend the safeguards for everyone’s rights and
...
Social / Threat of Violence
Searching for indicator violence:
(return to top)
p.000023: related, economic and social risks and
p.000023:
p.000023: raises ethical issues.
p.000023:
p.000023: Another use for DNA is what English- language literature calls forensic DNA phenotyping, i.e. the
p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
p.000023: Predisposed to violence?
p.000023:
p.000023: The late 19th century theories on ‘born criminals’ have trig- gered controversy and debate between studies claiming to
p.000023: support the notion of innate behaviour and those giving preference to psychological and sociological crime
p.000023: factors. The studies favouring innateness have served to support ‘genetic defence’ theories for
p.000023: criminal accountability or screening programmes for a potential ‘crime gene’ which apart from having
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
...
Social / Victim of Abuse
Searching for indicator victim:
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p.000007: in a more extensive appraisal of the whole subject of wider use of high throughput DNA sequencing and its medical and
p.000007: societal implications.
p.000007: In that Opinion, CCNE observed1 that in the near future it could become technically easier, and probably cheaper, to
p.000007: do so-called whole2 genome sequencing than to select short regions of in- terest for targeted sequencing. At this
p.000007: time, such developments could, and in fact should, be the subject of a progress report. Identifying a mutation or
p.000007: another genomic anomaly (of a chromo- some for instance) causing a disease is a necessary scientific and medical first
p.000007: step so that the expectations of families falling victim to a genetic disease can be satisfied (‘naming the disease’ is
p.000007: part of the therapeutic process3). It is also the gateway to perceiving, in the medium or the longer term,
p.000007: possibilities for treatment or even the cure of diagnosed genetic diseases or disabil- ities.
p.000007: Genomics in this era of very high throughput DNA sequencing plays a role in the creation of gi- gantic health related
p.000007: data bases (‘big data’) raising considerable ethical challenges, particularly as regards the right to privacy.
p.000007: Furthermore, growing knowledge and understanding of the ge- nome pave the way for increasingly specific and
p.000007: sophisticated procedures involving human DNA4, which cannot fail to raise vast ethical issues both as regards
...
p.000024: 2° European rules: those of the Convention for the Protection of Human Rights and Fundamental Freedoms dated November
p.000024: 4, 1950 and those of the Convention on Human Rights and Biomedi- cine, known as the Oviedo Convention56, dated April 4,
p.000024: 199757, which sets out “common general
p.000024:
p.000024:
p.000024:
p.000024:
p.000024: Criminal Chamber of the Court of Cassation (French Supreme Court of Appeal), on 25 June 2014 (see Bul- letin des arrêts
p.000024: de la Cour de cassation, chambre criminelle 2014, n° 166 - Criminal Chamber records) ap- proved a decision by the
p.000024: Examining Chamber to order an expert examination of the DNA sampled on the person of the victim of violent rape with
p.000024: the aim of revealing the morphological characteristics of the per- petrator and facilitate his identification.
p.000024: 51 An analysis of this legal context as regards i) examination of genetic characteristics, ii) antenatal diag- nosis
p.000024: and iii) the protection of personal data, is provided in annex V-1 (Analysis of the legal context).
p.000024: 52 Laws n°94-548 dated July 1, 1994, n°94-653 and n°94-654 dated July 29, 1994, incorporating modifica-
p.000024: tions successively made by laws n° 2004-800 dated August 6, 2004 and n° 2011-814 dated July 7, 2011, both concerned
p.000024: with bioethics.
p.000024: 53 Article 16-4 of the Code civil: “...a person’s genetic characteristics can only be examined for medical pur- poses
p.000024: or for scientific research.”
...
Social / Women
Searching for indicator women:
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p.000039: people highlights a form of injustice for populations where preva- lence of a given disease is lower and does not
p.000039: therefore qualify for the free provision of screen- ing. It would seem, therefore, that the concern is more in terms
p.000039: of insurance than for ethical mo- tives. This is the reason why some geneticists suggest that such testing should be
p.000039: done not only for high risk populations, possibly with already one child affected, but for the population at large with
p.000039: an analysis of pathologies on a specific list drawn up after careful reflection integrating eth- ical principles of
p.000039: pertinence, usefulness, interpretability, reliability, etc.
p.000039: In the United States again, the GenePeeks Corporation has on offer, for women choosing in vitro fertilisation with
p.000039: donor sperm, a service functionally equivalent to preconception screening, so that they may have a child only
p.000039: with donors supplying genetically compatible gametes. More generally, those involved with gamete storage in this
p.000039: respect, seek to reconcile essential (genet- ic) security of the donation with respect for donors, and above all to
p.000039: refrain from reducing the ethical component to no more than a benefit-to-risk ratio evaluation.95
p.000039: In the present context, therefore, it is no longer the possibility of offering preconception testing that needs to be
p.000039: discussed, since it is already on offer, but rather how it is provided. Who for? For what medical conditions? With
...
p.000066:
p.000066:
p.000067: 67
p.000067:
p.000067: Prenatal diagnosis was initially regulated by the provisions of the law N° 94-654 dated July 29, 1994 and was defined
p.000067: as follows: “it describes medical practices aiming to detect in utero in the embryo or foetus a particularly severe
p.000067: affection. It must be preceded by medical consultation appropriate to the disorder under research.” This is a broad
p.000067: definition, but under this law, the rules applicable only ap- ply to biomedical tests with a view to discovering a
p.000067: specific condition when there is reason to suspect a particularly severe anomaly.
p.000067: Over the past twenty years, we have evolved from diagnosis for couples who already had a child with Down’s syndrome to
p.000067: diagnosis proposed to certain categories of women (initially those over 38 years old) and finally to screening, as in
p.000067: the case of prenatal screening for cystic fibrosis which was referred to CCNE162 in 2003, with the Committee opting in
p.000067: favour of generalised screening. Systematic neona- tal screening has been practised in France since 2002 to ensure
p.000067: that any medical condition is treated at the earliest possible time. Prenatal screening, however, is still excluded.
p.000067: Moreover, insofar as obstetrical and foetal ultrasound has become the primary diagnostic tool and provides foetal
p.000067: imagery so detailed that it can be used to screen for certain malformations and de- velopmental damage at ever earlier
p.000067: stages of gestation, the July 7, 2011 law n° 2011-814 has extend- ed to this practice the rules initially only
p.000067: applicable to genetic diagnosis.
...
Social / Youth/Minors
Searching for indicator emergency:
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p.000047: should be the subject of the community’s consideration without further delay in order to avoid or minimise them, or
p.000047: take compensatory measures.
p.000047: CCNE would like such consideration to be given to the important subjects for which the ‘genetic revolution’, as it is
p.000047: sometimes called, plays a major role: medical practices, free and informed consent, privacy. We may indeed
p.000047: be faced with a genetic revolution, but this is a change of scale rather than a hitherto unknown set of circumstances.
p.000047: Questions such as “How should the right not to know be respected?” or “What should be done about incidental findings”
p.000047: are by no means new. Medical imaging (for example emergency ab- dominal CT scans leading to a large number of
p.000047: “incidentaloma”111 findings) and biological tests have been raising identical problems for quite some time.
p.000047: Similarly, the question of personal in- formation and whether it concerns other members of the family is not a new one.
p.000047: It already ex- isted when members of the medical professions needed to ask about family history.
p.000047: Nor is the difficulty of making personal genetic data anonymous a new and singular problem, even though
p.000047: it is even more critical. Nevertheless, although the change in scale does not make
p.000047:
p.000047:
p.000047: 111 Kelly ME, et al. Incidental findings detected on emergency abdominal CT scans: a 1-year review. Ab- dom Imaging.
p.000047: 2015; Jan 10.
p.000047:
p.000047:
p.000047:
p.000047: Opinion N° 124
p.000047:
p.000047:
p.000048: 48
p.000048:
p.000048: any previously unheard of contribution to the issue, it does magnify existing problems concern- ing how this should be
p.000048: done and the ethical obligation to find out whether the new techniques are of benefit to the majority without
p.000048: encroaching on the rights of individuals.
p.000048: Before even entering into any discussion of these issues, it should be noted that if the procedure was to be
p.000048: generalised, we could neither carry out the genomic analysis nor provide personal ge- netic counselling for lack of the
p.000048: necessary financial and human resources. Furthermore, the fa- cilities to store the massive amount of data generated
...
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
p.000058: 127 “Closing the gap in a generation. Health equity through action on the social determinants of health.” Fi- nal
p.000058: Report of the Commission on Social Determinants of Health. World Health Organization 2009. ISBN 978 92 4 256370 2.
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Economic / Economic/Poverty
Searching for indicator poverty:
(return to top)
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
p.000058: 127 “Closing the gap in a generation. Health equity through action on the social determinants of health.” Fi- nal
...
Searching for indicator poor:
(return to top)
p.000029: (32.4%), where one smoker out of two will die of a tobacco-related illness and where quite a num- ber of patients do
p.000029: not comply with medical prescription.
p.000029:
p.000029:
p.000029:
p.000029:
p.000029: Opinion N° 124
p.000029:
p.000029:
p.000030: 30
p.000030:
p.000030: DNA sequences (the genotype) and the phenotype, and therefore between an individual genome and the dynamics of its
p.000030: expression so as, in particular, to gain a better understanding of the transition from good health to bad,
p.000030: and so improve the medical management73 of poor health.
p.000030:
p.000030:
p.000030:
p.000030:
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p.000030:
p.000030:
p.000030: 73 Chen R. (2012). Personal Omics profiling reveals dynamic molecular and medical phenotypes. Cell; 148: 1293-1307.
p.000030:
p.000030:
p.000030:
p.000030: Opinion N° 124
p.000030:
p.000030:
p.000031: 31
...
p.000049: erroneous predictions. Reinforcing the validation process of the perti- nence and safety of the use made of knowledge
p.000049: generated by genome analysis is of primary im- portance, not forgetting to integrate developments in medical
p.000049: evidence based mathematical standards (evidence based medicine).
p.000049: Another point is that it must be noted that precision medicine leads to a subdivision of frequent diseases, for example
p.000049: cardiovascular disorders or diabetes, into subgroups of rare diseases bet- ter described in molecular terms, so as to
p.000049: be able to prescribe appropriate treatment. These de- velopments require specific therapeutic strategies of the same
p.000049: kind as those currently existing for rare diseases, or in the case of frequent diseases in patients from poor countries
p.000049: who are un- able to buy these medications113. So, as attempts at ‘personalised’ or ‘precision’ medicine are
p.000049: made, are we not calling into question the current model for the elaboration, production and marketing
p.000049: of medications based on the so-called ‘blockbuster’ drugs? The pharmaceutical in- dustry is currently
p.000049: adapting to a market for targeted, but frequently very costly drugs (for ex- ample Nivolumab for metastatic melanoma et
p.000049: non small cell lung cancer) whose impact on the health care budget and therefore on the French sickness insurance
p.000049: system raises major national solidarity issues114.
p.000049:
p.000049:
p.000049:
p.000049: 112 Claeys A, Vialatte JS, Office parlementaire des choix scientifiques et techniques. Les progrès de la géné- tique :
...
p.000058: limited attention granted to prevention in public health policies? 129
p.000058: Investigating the actual portent of defects in our genes and DNA sequences and how they could affect life expectancy is
p.000058: a legitimate enterprise, as long as we remember that life expectancy de- pends primarily on social, non-genetic
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
...
p.000064: “a person requesting examination of his or her genetic characteristics or those of a third party […] except in the
p.000064: circumstances provided for by law, incurs a fine of €3,750”.
p.000064: 155 Genetic Tests for Health Purposes,
p.000064: Council of Europe, 2012, http://www.coe.int/t/dg3/healthbioethic/Source/fr_geneticTests_hd.pdf
p.000064: 156 F. Ewald, J-P Moreau, Génétique médicale, confidentialité et assurance, Revue Risques, n°18, 1994.
p.000064:
p.000064:
p.000064:
p.000064: Opinion N° 124
p.000064:
p.000064:
p.000065: 65
p.000065:
p.000065: capital. Consequently, concealing information about poor health harms other insured people who are made to bear
p.000065: an unfair share of the burden and, at the same time, not being allowed to communicate information about
p.000065: good health is harmful to the person concerned who is unable to negotiate a more favourable insurance premium.
p.000065: It was decided, firstly in the draft law on bioethics in 2001 and later in draft legislation on patients’ rights and
p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
p.000065: But it must be added that discrimination based on the state of health, “when relating to death prevention and coverage,
...
Searching for indicator economic:
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p.000005: 6- Fields of
p.000005: application.............................................................................................................
p.000005: ................ p. 20
p.000005: a- Medical approach
p.000005: ........................................................................................................................
p.000005: ................. p. 20
p.000005: b- Non medical use
p.000005: ........................................................................................................................
p.000005: ................... p. 23
p.000005: B. The legal
p.000005: context.................................................................................................................
p.000005: ..................... p. 24
p.000005: C. The socio-economic context
p.000005: ................................................................................................................... p.
p.000026: 26
p.000026: 1- New types of demands
p.000026: .......................................................................................................................
p.000026: p. 26
p.000026: 2- Increasing merchandisation of technology
p.000026: ......................................................................................... p. 27
p.000026: 3- Archiving and merchandising individual
p.000026: data..................................................................................... p. 28 4- The link between
p.000026: public research and marketable innovation .......................................................... p. 28 5-
p.000026: Repercussions on medical management
p.000026: ............................................................................................ p. 29
...
p.000008: society’s deep concern. The technique in question, ‘very high throughput se- quencing’, allows for
p.000008: automated parallel nucleotide DNA (genome) sequencing, but also of RNA, and several of its characteristics raise
p.000008: ethical issues: it is fast and therefore less and less costly, it can therefore be global, it generates massive
p.000008: quantities of data whose interpretation, in particu- lar in terms of medical impact, is facilitated by its application
p.000008: to cohorts numbering thousands of individuals. Dauntingly vast computing resources, but also statistical and
p.000008: mathematical re- sources are required for the management, storage and particularly interpretation of such data. The
p.000008: provisioning of such resources is a real challenge in itself and in terms of the power issues, in particular economic
p.000008: ones, which it raises.
p.000008: This type of ‘global’ sequencing could, in the very near future, become more accessible even for the analysis of a
p.000008: particular gene. Considering the evolution of the cost of sequencing since the
p.000008:
p.000008:
p.000008: 5 CCNE, Opinion N° 109 (2010): Society and the Communication of Scientific and Medical Information: Ethi- cal Issues.
p.000008: 6 CCNE, Opinion N°97 (2007): Ethical Issues Arising out of the Delivery of Neonatal Genetic Information af- ter
p.000008: Screening for Genetic Disorders (the Examples of Cystic Fibrosis and Sickle-Cell Disease).
p.000008: 7 “There is one quality more important than know-how […]. This is know-what by which we determine not only how to
...
p.000023: thinking regarding the individual empower- ment without interference from the medical professions and without
p.000023: community support. The main motivation in the United States for those paying for such testing is to know
p.000023: more about their ancestry “Bring your ancestry to life” says the 23andMe website, and trace your “lineage” through
p.000023: genetic links. In the genealogical indication — unlike medical prediction — results are robust, but they use other
p.000023: markers. Advertising for these studies is aimed directly at the con- sumer, and the sale of tests and communication
p.000023: of results is addressed directly to the consumer. Usually, members of the medical professions do not play any
p.000023: role. This does lead to health-
p.000023: related, economic and social risks and
p.000023:
p.000023: raises ethical issues.
p.000023:
p.000023: Another use for DNA is what English- language literature calls forensic DNA phenotyping, i.e. the
p.000023: production of a phenotype based on DNA analysis (DNA profile). Currently, conventional genet- ic fingerprinting
p.000023: for criminological pur- poses are produced using non coding sequences and do not contribute any personal
p.000023: information. It would there- fore be a major change in procedure if genetic variations giving indications
p.000023: on hair or eye colours, stature or other vis- ible characteristics were used50.
p.000023: Predisposed to violence?
p.000023:
...
p.000023: criminal accountability or screening programmes for a potential ‘crime gene’ which apart from having
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
...
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
p.000026: scientific progress. It marks the end of mass medicine and the beginning of almost bespoken medi- cine; the
p.000026: replacement of so-called blockbuster medication catering for a specific pathology regard- less of the heterogeneity of
p.000026: patient-specific pathological characteristics by ‘stratified’ medication, with indication and dosage designed to fit
...
p.000027: DeciBio is for a much smaller amount, about one billion dollars in all, with oncology and non in-
p.000027: 67 The Facebook network, for example, is associated with the largest global database of faces, to which its
p.000027: participants contribute although they are not always fully aware that they are doing so.
p.000027:
p.000027:
p.000027:
p.000027:
p.000027: Opinion N° 124
p.000027:
p.000027:
p.000028: 28
p.000028:
p.000028: vasive prenatal diagnosis as the main resources. There is a large margin of uncertainty.”68
p.000028:
p.000028: 3- Archiving and merchandising individual data
p.000028:
p.000028: The challenge of archiving and bioinformatics posed by the sequencing technologies also has an economic dimension.
p.000028: Bioinformatics burst into biology and medicine and this was yet another very significant mutation. Engineers and
p.000028: information technology experts have had to hone their technical skills since the true challenge is the interpretation,
p.000028: as much as the acquisition, of se- quencing data based on ever more sophisticated and powerful algorithms. It is for
p.000028: this reason that new players in this field, who are specialists in the computerised analysis of large quantities of
p.000028: data — the big data — are people trained for activities which are not those usually required in biology and genetics.
p.000028: The example of the IT giant Google is particularly illuminating in this re- spect as is the fact that it has
p.000028: invested in the creation of one of the more emblematic genetic analysis companies in direct contact with
...
p.000033: necessity (need to solve a clinical problem) and its propor- tionality (balance between advantages and
p.000033: drawbacks for a patient). When full sequencing is authorised, strict protocol must guide deci- sions to be
p.000033: taken regarding unsolicited discover- ies83.
p.000033: The Presidential Commission for the Study of Bi-
p.000033: "Genetics and Medicine: from Prediction to Prevention"
p.000033: CCNE Opinion N° 46 - 30 October 1995
p.000033:
p.000033: Genetic tests give information on the identity of persons and emphasise their diversity which con-
p.000033: tributes to the rich nature of humankind. To use such information for the purpose of selection or of
p.000033: discrimination in social or economic terms, be that in the realm of public health policies, employment, or insurance
p.000033: systems, would be crossing a boundary of the most extreme gravity and would question those principles of
p.000033: equality of rights, dignity and sol- idarity for all human beings upon which society as we know it is based.
p.000033: The CCNE insists on the neces- sity of observing those fundamental principles whatever aims may be
p.000033: pursued by genetic testing. Human Rights are at stake.
p.000033: oethical Issues in the United States and the European Society of Human Genetics emphasised the need to initiate a
p.000033: shared decision process with patients regarding the confines within which ge- netic testing results would be
p.000033: communicated and the procedures to be observed in the event of incidental findings. Physicians must respect a
...
p.000036: and understanding of the genome, this is only possible in a small minority of cases. Dealing with this challenge is an
p.000036: ‘ethical imperative’ and a response to the legitimate expectations of parents called upon to care for a disabled child.
p.000036: For Arnold Munnich, for whom the primary obligation is to name the dis- ease and identify the molecular foundations,
p.000036: “... the true ethical challenge is: how can I assure my patients that all that science is aware of has been
p.000036: investigated in their particular case? That none of them have suffered any ‘loss of opportunity’? This is a taxing
p.000036: technical and economic problem in view of the fact that a severe disorder, such as mental retardation, autism,
p.000036: epilepsy, may be due to the effects of several hundred genes known and classified by science, but still untested in our
p.000036: cur- rent health care system. 91
p.000036: And yet, rather like a person looking for missing keys under a good light rather than where they were actually mislaid,
p.000036: it is easier for us to investigate genomic areas and genes for which we al- ready know the predictive nature of their
p.000036: mutations and to propose that they be systematically
p.000036:
p.000036:
p.000036: 90 Report written at the request of the Agence de Biomédecine (Biomedicine Agency) and the Institut Na- tional du
p.000036: Cancer (National Cancer Institute) 2007
p.000036: 91 « La génétique est-elle inhumaine ?», in Esprit, 2014/7 Juillet, p. 66-74.
p.000036:
p.000036:
...
p.000040: brings us to a situation midway between praise, or even reward, for virtuous behaviour and that of demonising or
p.000040: even penalising risky behaviour. In this way, there could be a blurring of the traditional distinction between a risk
p.000040: in- curred born of a not as yet controllable heredity and a risk chosen by the adoption of a lifestyle.
p.000040:
p.000040:
p.000040: 96 CCNE, Opinion N°46 (1995): Opinion and Recommendations on “Genetics and Medicine: from Predic- tion to
p.000040: Prevention”.
p.000040: 97 Two articles are evidence of the (economic) interest the insurance industry is taking in connected de- vices for a
p.000040: personalised evaluation of health risks (« Notre enjeu est de rendre les assurés acteurs de leur propre santé avec
p.000040: un prérequis : proagir et prévenir » [CNP-assurances]) (“Our challenge is to get policy holders to take
p.000040: charge of their own health, with one proviso: they must be proactive and preventive). And they are already in use:
p.000040: http://www.lemonde.fr/economie/article/2015/06/15/les-objets-connectes-transforment-le-secteur-
p.000040: de-l-assurance_4654485_3234.html#
p.000040: http://www.insurancespeaker-solucom.fr/2014/02/objets-connectes-quels-enjeux-pour-lassurance-de- personnes/
...
p.000058: This role is both the cause and the consequence of using a very powerful technology capable of increasing the knowledge
p.000058: we already have or wish to acquire about our heredity and, more gen- erally, of our physiology, before its
p.000058: biotechnological or medical application. In view of the em- phasis on medical applications, CCNE must stress
p.000058: that it is now well established that major health determinants, and therefore the major determinants of public
p.000058: health prediction are relat- ed to lifestyle, most particularly in the social and economic conditions affecting
p.000058: people’s lives.
p.000058: 127,128
p.000058:
p.000058: To be sure, where individual health is involved and, in a given environmental context, the pre- dictive value of
p.000058: certain genetic determinants based on rigorous scientific facts, can be significant and pave the way for preventive
p.000058: measures, some of which may be effective. Is there not a dan- ger that genetics may take over the already
p.000058: limited attention granted to prevention in public health policies? 129
p.000058: Investigating the actual portent of defects in our genes and DNA sequences and how they could affect life expectancy is
p.000058: a legitimate enterprise, as long as we remember that life expectancy de- pends primarily on social, non-genetic
p.000058: determinants, such as for example the environment. So- cial and economic determinants have a major impact on the
p.000058: health of people living in the poor- est countries (in particular access to safe drinking water, decent sanitation,
p.000058: sufficient food sup- plies, medication, etc.). These social and economic determinants also play a major role in
p.000058: the health of the population of our own country, where three million children are living below the poverty line and
p.000058: where an ever increasing number of people in precarious living conditions of- ten cannot afford to see a doctor except
p.000058: belatedly in the accident and emergency department of a hospital; our country in which we can observe great disparities
p.000058: in life expectancy depending on dietary habits generating obesity or the consumption of tobacco and alcohol, but also
p.000058: dispari-
p.000058:
...
p.000058: post- 2010.
p.000058: 129 It is worth noting that only 2.24% of current health expenditure was spent on prevention in France in 2014.
p.000058: http://www.irdes.fr/enseignement/chiffres-et-graphiques/depenses-de-sante/depense-courante-de- sante.html
p.000058:
p.000058:
p.000058:
p.000058:
p.000058: Opinion N° 124
p.000058:
p.000058:
p.000059: 59
p.000059:
p.000059: ties due to people’s professions or where they live.
p.000059:
p.000059: Should we not also investigate the nature of the scientific, political and mainly economic forces moving relentlessly
p.000059: in the direction of an increasingly technical management of health care? Ge- netic testing is only the tip of the
p.000059: iceberg, currently conspicuous because of the prodigious speed of its development.
p.000059: Human genomic research will only be a major asset for improving human health if it does not supplant clinical medicine
p.000059: and public health policy130, both of which are inseparable from health care.
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: 130 Public health policy can help to modify the social and economic determinants of health whereas clinical medicine
p.000059: is, more often than not, ineffective in this respect.
p.000059:
p.000059:
p.000059:
p.000059:
p.000059: Opinion N° 124
p.000059:
p.000059:
p.000060: 60
p.000060:
p.000060: V / Annexes
p.000060: A. Analysis of the legal context
p.000060:
p.000060: 1- Examination of genetic characteristics
p.000060:
p.000060: The two subjects: genetic testing for medical purposes one the one hand and forbidding discrimina- tory use of the
p.000060: results on the other, will be considered separately.
p.000060: a- Genetic testing for medical purposes
p.000060:
p.000060: This examination consists in analysing a person’s inherited genetic traits or those acquired at an early stage of
...
p.000074: these techniques, but also to the marked discrepancy between diagnostic capability (at a time prior to DNA sequencing)
p.000074: and therapeutic solutions. The report examines some of the issues with regard to predictive medicine.
p.000074: ➢ OPINION N° 9 Opinion on problems arising because of the development of methods using human cells and their
p.000074: derivatives. (February 1987)
p.000074: This Opinion is concerned with donations of products of human origin and the use made of them, in particular as regards
p.000074: not directly medical uses. It excludes purely economic uses made of such samples.
p.000074: ➢ OPINION N° 17 Opinion concerning the dissemination of DNA analysis identification techniques (genetic
p.000074: fingerprinting). (December 1989)
p.000074:
p.000074:
p.000074:
p.000074:
p.000074: Opinion N° 124
p.000074:
p.000074:
p.000075: 75
p.000075:
p.000075: CCNE proposed that strictly limited use should be made of genetic testing to ensure that citizens’ civil identity did
p.000075: not become a marketable object or be used as means of pressure on an individu- al (emphasis on free will and risks of
p.000075: discrimination). CCNE called attention to the dangers of stor- ing results provided by identification techniques using
p.000075: DNA analysis.
...
p.000076: ➢ OPINION N°57 Technical progress, health and societal models: the ethical dimension of collective choices (March
p.000076: 1998)
p.000076: CCNE considered the ethical dimension of collective health policies, identification of priorities and procedures for
p.000076: settling inevitable conflict between certain individual aspirations and collective ne- cessities, in the context of
p.000076: very rapidly evolving medical technology and its now dominant position in medicine. The Opinion analysed the question
p.000076: of health confronted by the concept of economic containment.
p.000076: ➢ OPINION N° 76 Regarding the obligation to disclose genetic information of concern to the family in the event of
p.000076: medical necessity (April 2003)
p.000076: CCNE analysed the ethical issues with regard to informing relatives while strictly observing medi- cal confidentiality.
p.000076: The Committee considered that “It would be counter productive if the very notion of genetic screening were to
p.000076: create a priori reluctance for those who might feel threatened by compulsory disclosure of their biological privacy.”
p.000076: ➢ OPINION N° 77 Ethical issues raised by collections of biological material and associated infor- mation
p.000076: data : " biobanks", " biolibraries." (March 2003)
...
Economic / Welfare Recipient
Searching for indicator welfare:
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p.000005: A. The Scientific
p.000005: context.................................................................................................................
p.000005: .............. p. 11
p.000005: 1- Genetics, between science and practice
p.000005: ............................................................................................. p. 12
p.000005: 2- Biological complexity and genetic determinism
p.000005: ................................................................................ p. 13
p.000005: 3- The limits of genomics: the contribution of epigenetics
p.000005: .................................................................... p. 14
p.000005: 4- From genotype to phenotype with regard to health and welfare .....................................................
p.000005: p. 15
p.000005: 5- What data and what
p.000005: risks?..................................................................................................................
p.000005: p. 17
p.000005: a- A change of scale in time and in quantity.
p.000005: .................................................................................................. p. 17
p.000005: b- The uncertainties of sequencing: the challenges of quality and
p.000005: interpretation............................................ p. 18
p.000005: c- The challenge of data management.
p.000005: ............................................................................................................ p. 19
p.000005: 6- Fields of
p.000005: application.............................................................................................................
p.000005: ................ p. 20
...
p.000015: of acquired characteristics over several generations25.
p.000015: As yet, however, we are unable to perform a global analysis of the epigenome26, except for spe- cific indications
p.000015: (cancers, some childhood pathologies). But possibly in the future such analysis could help to define — more precisely
p.000015: than with only a genetic sequence — susceptibility via, for example, indicators of an environmental risk of
p.000015: exposure (nutrition, climate, toxic substances, etc.) and therefore identify with greater certainty high-risk
p.000015: individuals who might benefit from preventive measures.
p.000015: 4- From genotype to phenotype with regard to health and welfare
p.000015: Apart from monogenic disorders, genome
p.000015:
p.000015: sequencing alone is not very helpful to pre- dict a risk since, in complex diseases, the genetic contribution is
p.000015: small and above all, difficult to evaluate. It now appears that genomic analysis alone, without the benefit of
p.000015: high quality phenotypic analysis, is not very useful to understand the development of a disease affecting an
p.000015: individual. Infor- mation acquired through ‘phenotype’ anal- ysis is at least as important as the genomic
p.000015: contribution and it is the cross-matching of both types of data — genomic and pheno- typic — which best
p.000015: describes the physio-
p.000015: Epigenetics, the epigenome
p.000015: Epigenomes regroup the regulatory mechanisms with which the genotype (genome sequence) leads to phe- notypic diversity
...
General/Other / Cultural Differences
Searching for indicator cultural:
(return to top)
p.000023: doubtful pertinence and limited efficacy, would represent a major risk of stigmatisation and exclu- sion.
p.000023:
p.000023: In an Opinion on Ethical Issues Raised by Prediction Based on Detection of Early Behavioural
p.000023: Disorders in Children (Opinion N° 95, January 2007), CCNE was concerned about the danger of a postulate giving
p.000023: prominence “to the innate (genetic factors, cerebral predisposition, etc.) at the expense of the acquired (economic,
p.000023: social, cultural, educational and family-related environmental factors, etc. It suggests a line- ar and reductive
p.000023: approach of human behaviours and thus raises several epistemological and ethical problems.”
p.000023:
p.000023:
p.000023: 49 “The market for these analyses is dominated by four players, all in the United States: 23andMe, focusing on medical
p.000023: aspects, claims it has four hundred thousand clients; the Genographic Project, launched by the National Geographic
p.000023: magazine is concerned with population genetics and client ancestor profiles, of which there over six hundred thousand
p.000023: to date; the remaining two players, Ancestry.com and Family Tree DNA, identify themselves mainly as assistance for
...
p.000036: expectant mothers, couples, and more generally to society as a whole that there is any encouragement or instruction
p.000036: contained in public health policies or in the wishes of the community to the effect that only children who are ex- empt
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
p.000036: In neonatology, geneticists are mainly concerned with diagnosis. It is contained in the singular dialogue between
p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
p.000036: is important to be able to identify the causal genetic defect — or defects. Despite massive progress in the analysis
...
Searching for indicator culture:
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p.000078: CCNE was also concerned about allowing these antenatal tests to be marketed, particularly on the Internet, since they
p.000078: would become difficult to control and could lead to “predictive medical tour- ism" becoming the norm with helpless and
p.000078: distraught couples attempting to cope with unvalidat- ed test procedures”.
p.000078: ➢ OPINION N° 109 Society and the communication of scientific and medical information: ethical is- sues. (February
p.000078: 2010)
p.000078: This Opinion was not dealing specifically with genetic data, particularly not with personal data. But it
p.000078: emphasised the need for everyone to appropriate some part of scientific culture and the ef- forts that society was
p.000078: entitled to require from scientists and technicians whose work has an ever swifter and stronger impact on the lives of
p.000078: citizens. The right to information, therefore, is part and parcel of duty to inform.
p.000078: ➢ OPINION N°117 Use of stem cells derived from umbilical cord blood, the umbilical cord itself and the placenta; their
p.000078: storage in biobanks. Ethical issues. (February 2012)
p.000078: This Opinion was concerned with biobanks and the use made of them and with the identification of stored samples.
p.000078:
p.000078:
p.000078:
p.000078:
p.000078:
p.000078: Opinion N° 124
p.000078:
p.000078:
p.000079: 79
p.000079:
...
General/Other / Dependent
Searching for indicator dependent:
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p.000040: Predictive medicine starts with the calculation of the ‘risk surplus’ of contracting a disease com- pared to the
p.000040: population at large and is therefore based on a probabilistic type of analysis. It therefore situates a
p.000040: person beyond the individual level, within society. Is the individual ac- countable to society?
p.000040: Be they common ailments, relatively treatable such as diabetes, hypertension and cardiovascu- lar diseases, or
p.000040: progressive and so far inevitable such as Alzheimer’s and Parkinson’s, the cost for society of such conditions which
p.000040: could become ‘predictable’ in the near future is considera- ble. But as regards the first group, there are preventive
p.000040: measures considered by some (increas- ingly numerous) to be dependent on lifestyle and which could have a considerable
p.000040: impact on na- tional health care expenditure, in particular if DNA sequencing came to be in general use and
p.000040: therefore made it possible to start ‘prevention’ at a young age, or even at birth. Monitoring
p.000040: compliance with ‘healthy lifestyle’ rules is likely, furthermore, to become ever easier thanks to connected medical
p.000040: care and devices97.
p.000040: “Although France is strongly attached to principles of non discrimination and mutualisation of risks, the
p.000040: emergence of predictive medicine could be disruptive. Having detailed knowledge of indi- vidual risks, if that turned
p.000040: out to be possible, could lead to a breakdown, or at least to dilution of solidarity and of the mutualised
...
General/Other / Diminished Autonomy
Searching for indicator age:
(return to top)
p.000034: of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity". Universal
p.000034: Declaration on the Human Genome and Human Rights (1997), Article 1.
p.000034: 85 Gymrek M. et al. (2013). Identifying Personal Genomes by Surname Inference. Science; 339: 321-324.
p.000034:
p.000034:
p.000034:
p.000034: Opinion N° 124
p.000034:
p.000034:
p.000035: 35
p.000035:
p.000035: greatest. Scientists and physicians working on research are well able to anonymise health data and therefore of
p.000035: managing associations between personal data (sex, age, geographic location, etc.) and medical data. Creating a
p.000035: link between such information and that derived from genomic analysis, which is not in essence anonymous, is obviously a
p.000035: risk to the integrity of anonymity. It would not even be unthinkable to suppose that a link between such information
p.000035: and the exist- ence of a biological sample stored in a biobank86, whose DNA could be sequenced at any time87, is also a
p.000035: threat to anonymity88.
p.000035: Currently, the dispersion of data files, despite their constantly growing numbers, seems to pro- tect against this
p.000035: threat. They are, however, increasingly easy to interconnect, in particular with the help of the computerised
...
p.000038: for prospective mothers so as to find a genetically compatible gam- ete (sperm) donor for them thus preventing
p.000038: their future child from being affected by one of the serious genetic conditions on a list drawn up by GenePeeks
p.000038: themselves.
p.000038: Why, some people ask, reject what technolo-
p.000038: gy can do to ‘improve’ our condition?
p.000038: ple so that they could be subjected to discrimination or stigmatisation. This situation would raise ethical issues
p.000038: which are included in the general context of those raised by access to complete ge- nome sequencing, at whatever age.”
p.000038: This is already being done in some countries: the Genzyme Genetics company is providing a test for 98 of the most
p.000038: frequent mutations of the CFTR gene, some of which predispose for cystic fi- brosis (one at-risk couple in 1,400).
p.000038: This preconception screening procedure for heterozygous people has been systematic for a long time in populations where
p.000038: there is a marked prevalence for certain inherited conditions. In 2004, Saudi Arabia made the test mandatory to
p.000038: detect the transmission of sickle-cell anaemia and thalassemia. In Cyprus and Sardinia, preconception
p.000038: screening for β thalassemia has had the effect of dramatically reducing the number of cases. In Israel, systematic
p.000038: screening is recommended for eight diseases for which heterozygous frequen- cy is greater than 1/60 and it
...
p.000040: Be they common ailments, relatively treatable such as diabetes, hypertension and cardiovascu- lar diseases, or
p.000040: progressive and so far inevitable such as Alzheimer’s and Parkinson’s, the cost for society of such conditions which
p.000040: could become ‘predictable’ in the near future is considera- ble. But as regards the first group, there are preventive
p.000040: measures considered by some (increas- ingly numerous) to be dependent on lifestyle and which could have a considerable
p.000040: impact on na- tional health care expenditure, in particular if DNA sequencing came to be in general use and
p.000040: therefore made it possible to start ‘prevention’ at a young age, or even at birth. Monitoring
p.000040: compliance with ‘healthy lifestyle’ rules is likely, furthermore, to become ever easier thanks to connected medical
p.000040: care and devices97.
p.000040: “Although France is strongly attached to principles of non discrimination and mutualisation of risks, the
p.000040: emergence of predictive medicine could be disruptive. Having detailed knowledge of indi- vidual risks, if that turned
p.000040: out to be possible, could lead to a breakdown, or at least to dilution of solidarity and of the mutualised
p.000040: coverage of the health risk”98. The example from the United States, not as yet reaching France, of
...
p.000045: disease, surely the right not to know is questionable?
p.000045: 107 Weil-Dubuc PL. (2013). Les servitudes du droit de savoir. Autour du diagnostic présymptomatique. Pu- blié dans
p.000045: laviedesidees.fr.
p.000045:
p.000045:
p.000045:
p.000045: Opinion N° 124
p.000045:
p.000045:
p.000046: 46
p.000046:
p.000046: In 2013, the American College of Medical Genetics and Genomics (ACMG) published recommen- dations for reporting of
p.000046: incidental findings in the event of full genome analysis108. Some fifty ge- netic anomalies were listed which
p.000046: warranted, according to this recommendation, an obligation to inform those concerned or the patients, regardless of
p.000046: whether they had or had not requested that information and irrespective of their age. This step goes a long way in
p.000046: the direction of an obligation to know, to giving up the right to ignorance. The arguments following the
p.000046: report’s publication led to the recommendations being withdrawn109. Being made aware of incidental findings is
p.000046: therefore no longer an obligation; it is still an option.
p.000046: In France, since the adoption of the law dated July 7, 2011 (article L. 1131-1-2 of the French Code of
p.000046: Public Health, it is mandatory to inform the next of kin if a serious genetic (hereditary) disease is diagnosed. This
p.000046: obligation does not solve the ethical problem of disclosing the risk of disease to blood relations who had not
...
p.000080: of the National DNA Database (November 2009)
p.000080: - A Common Framework of Principles for Direct-to-Consumer Genetic Testing Services (August 2010)
p.000080: - Intellectual Property and DNA Diagnostics: A Report of a Seminar on the Impact of DNA Patents on
p.000080: Diagnostic Innovation (October 2010)
p.000080: - Increasing Options, Informing Choice: A Report on Preconception Genetic Testing and Screening (April
p.000080: 2011)
p.000080: - The Concept of Genetic Discrimination: A Seminar Report and Reflections and Recommendations (April
p.000080: 2011)
p.000080: - Incidental Findings Arising from Clinical Genetic Testing: An Expert Workshop (April 2012)
p.000080: 189 Medical profiling and online medicine. The ethics of “personalised healthcare” in a consumer age. Nuffield Council
p.000080: on Bioethics, October 2010.
p.000080:
p.000080:
p.000080:
p.000080: Opinion N° 124
p.000080:
p.000080:
p.000081: 81
p.000081:
p.000081: lines the need to refrain from reducing the definition of ‘quality of life’ to a collection of medical or genetic
p.000081: data190.
p.000081:
p.000081: In view of certain opinions reflecting a degree of fascination for technical and scientific
p.000081: advances in modern human genomics (see one example in the box on this page191) there are
p.000081: recurrent issues concerning the integration of global genome sequencing into clinical medicine as
p.000081: well as on the conservation of access to, and the use made of, sequencing data for research purposes. With
...
General/Other / Impaired Autonomy
Searching for indicator autonomy:
(return to top)
p.000026: The theory of uncertainty and
p.000026: risk...................................................................................................... p. 31 2- How
p.000026: can medical practice be constructed in the presence of, or even based on,
p.000026: scientific uncertainty?
p.000026: ........................................................................................................................
p.000026: .....p. 32
p.000026: B. The genome: where personal privacy, the heritage and common property converge ......................... p. 34 1-
p.000026: Can sequencing data be made anonymous?
p.000026: ...................................................................................... p. 34 2- Do the technical
p.000026: advances in genetics leave enough scope for freedom and/or autonomy? .......... p. 35 3- From diagnosis to screening,
p.000026: from the individual to the community ................................................ p. 36 4- Preconception screening,
p.000026: between individual liberty and social constraint ..................................... p. 37 5- Will predictive
p.000026: genomics generate behavioural responsibility? ....................................................... p. 39
p.000026: C. The genome at the boundary between information and consent
p.000026: ......................................................... p. 41
p.000026: 1- The ethical challenges of genetic data
p.000026: ................................................................................................ p. 41
...
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
p.000026: highest technological quality and the most accurate information. The demand “ is supported by personalised
p.000026: patient information discovered thanks to formidable
p.000026: scientific progress. It marks the end of mass medicine and the beginning of almost bespoken medi- cine; the
p.000026: replacement of so-called blockbuster medication catering for a specific pathology regard- less of the heterogeneity of
p.000026: patient-specific pathological characteristics by ‘stratified’ medication, with indication and dosage designed to fit
p.000026: specific patient metabolism or to be more precise, to fit a sub-group of patients.” 66 .
p.000026: It should not, however, be referred to as ‘personalised’ medicine if that is supposed to mean “a medicine which is
p.000026: closer to the patient, more intimate”; on the contrary, it “disincarnates the in- dividual as it codes for individual
p.000026: particularities” and enters the patient into a narrative that is not limited to that individual’s own person, but
p.000026: includes his or her ancestors and descendants. In this respect, a person’s autonomy may be destabilised insofar as the
p.000026: sharing of personal in- formation may become an obligation and new items of information may need to be taken into
p.000026:
p.000026: 65 Charter of Fundamental Rights of the European Union, http://www.europarl.europa.eu/charter/pdf/text_fr.pdf
p.000026: 66 « La médecine personnalisée : un facteur de refonte des lois bioéthiques ? », Sophie Paricard
p.000026: Université Toulouse 1- Capitole Institut de droit privé CUFR J - F Champollion, Albi.
p.000026:
p.000026:
p.000026:
p.000026: Opinion N° 124
p.000026:
p.000026:
p.000027: 27
p.000027:
p.000027: consideration to make future personal decisions regarding behaviour and lifestyle, despite doubts about the
p.000027: information and the difficulty of its interpretation.
...
p.000035: technology being developed and now capable of managing massive quantities of data (‘big data’), so that genetic
p.000035: ‘correlations’ are increasingly easy to establish.
p.000035: In view of these difficulties some scientists and some legal experts believe that, rather than try- ing to prevent
p.000035: information from circulating, we should concentrate on educating DNA donors (sick or in good health)
p.000035: included or not in a cohort, who are willing to have their DNA se- quenced, and work on legislation
p.000035: protecting sequencing data from inappropriate use, as well as on the supervision of such uses.
p.000035: 2- Do the technical advances in genetics leave enough scope for freedom and/or autonomy?
p.000035:
p.000035: Back in 1995, CCNE pointed out the special role played by genetic analysis in its relationship with
p.000035: individuals and their private lives: “...a genetic test implies entry into the intimacy of an indi- vidual, of his
p.000035: body, and the significance he attaches to it in relation to his psychic identity. Fur- thermore, almost
p.000035: constitutional frailties may be revealed, of an innate and non accidental nature, the interpretation of which for the
p.000035: representation of self and the consequences for present and fu- ture life may be of major importance” 89. The
p.000035: Committee’s presentation of the rules and refer- ences was the following: “In medical genetics, some of the ordinary
p.000035: rules of medical ethics also ap- ply. But in view of the specific nature of this domain, it is immediately clear that
p.000035: there are particu- lar demands in its application, for instance as regards conventional rules of beneficial behaviour,
p.000035: autonomy of the patient (consent and confidentiality), and justice (fair distribution of risks and
p.000035: benefits, costs and advantages).”
p.000035:
p.000035:
p.000035: 86 CCNE, Opinion N° 77: Ethical Issues Raised by Collections of Biological Material and Associated Infor- mation Data:
p.000035: “Biobanks, “Biolibraries” (2003)
p.000035: 87 This raises the issue of the nature and scope of further consent and the choice which it should make available,
p.000035: of requesting or not the destruction of DNA once the test prescribed is done.
p.000035: 88 This matter is at the heart of ethical concerns regarding the merchandising of data files and biological samples,
...
p.000036: from any genetic abnormality […]can be allowed to see the light of day.” These considera- tions were examined in a
p.000036: report on: Prenatal Diagnosis, Medical Termination of Pregnancy, Pre- implantation Diagnosis and Hereditary Forms of
p.000036: Cancer90. It is through an analysis of the social and cultural conditions underlying the implementation of the new
p.000036: genetic analysis technologies that can be discovered the scars left by direct and indirect pressure applied to a
p.000036: couple’s deci- sion, and therefore the disrespect of their autonomy.
p.000036: 3- From diagnosis to screening, from the individual to the community
p.000036:
p.000036: In neonatology, geneticists are mainly concerned with diagnosis. It is contained in the singular dialogue between
p.000036: physicians (in fact the pluridisciplinary medical team) and ‘their’ patient, rep- resented by the parents. When
p.000036: measuring up to the clinical manifestations of a developmental problem which was not anticipated during pregnancy, it
p.000036: is important to be able to identify the causal genetic defect — or defects. Despite massive progress in the analysis
p.000036: and understanding of the genome, this is only possible in a small minority of cases. Dealing with this challenge is an
...
p.000039: mutilation or risk of incurable dis-
p.000039:
p.000039:
p.000039:
p.000039:
p.000039: 94 For some, this is even referred to as an ‘ethical imperative’.
p.000039: 95 Dondorp W. et al. (2014). ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical
p.000039: issues. Hum Reprod; 29:1353-1359.
p.000039:
p.000039:
p.000039:
p.000039: Opinion N° 124
p.000039:
p.000039:
p.000040: 40
p.000040:
p.000040: ease, is open to question” 96. At the time, predictive medicine was relatively powerless so that the comment seemed to
p.000040: apply mainly to personal autonomy and freedom.
p.000040: Predictive medicine starts with the calculation of the ‘risk surplus’ of contracting a disease com- pared to the
p.000040: population at large and is therefore based on a probabilistic type of analysis. It therefore situates a
p.000040: person beyond the individual level, within society. Is the individual ac- countable to society?
p.000040: Be they common ailments, relatively treatable such as diabetes, hypertension and cardiovascu- lar diseases, or
p.000040: progressive and so far inevitable such as Alzheimer’s and Parkinson’s, the cost for society of such conditions which
p.000040: could become ‘predictable’ in the near future is considera- ble. But as regards the first group, there are preventive
...
p.000044: programmes such as those mentioned above, they are required to give general and unlimited consent which, in itself,
p.000044: raises a time limit issue, but seems to be the only course of action if research is to be made possible. Reflection
p.000044: and debate are ongoing on the subject of broad or restricted consent, which will probably lead to rethinking the whole
p.000044: question of free and informed consent (see in- fra). Moreover, should consent be seen as within the competence of
p.000044: strictly personal autonomy? What of the consent of the next of kin?
p.000044: Do we own the information contained in our genome?
p.000044:
p.000044: In the case of more targeted research projects, as may be the case in an oncological context, complete
p.000044: genome sequencing techniques may simply be faciliatory, or be a necessity if the object is to compare the tumoral and
p.000044: the constitutional genomes. What type of consent can be given in such a case? Article L.1122-1 of the French Code of
p.000044: Public Health provides an exhaustive list of the information that must be given to the person participating in
p.000044: research, including inter alia the objectives, the length of time spent on the research, the impossibility of
...
p.000046: report’s publication led to the recommendations being withdrawn109. Being made aware of incidental findings is
p.000046: therefore no longer an obligation; it is still an option.
p.000046: In France, since the adoption of the law dated July 7, 2011 (article L. 1131-1-2 of the French Code of
p.000046: Public Health, it is mandatory to inform the next of kin if a serious genetic (hereditary) disease is diagnosed. This
p.000046: obligation does not solve the ethical problem of disclosing the risk of disease to blood relations who had not
p.000046: requested the information110. This is an example of how difficult it is to find the right balance between
p.000046: personal autonomy, respect for that autonomy and the duty of solidarity which is also expressed in the warning
p.000046: given and the prevention of a genetic risk or danger.
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046:
p.000046: 108 Green RC, et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome
p.000046: sequencing. Genet Med.; 15: 565–574.
p.000046: 109 Burke W, et al. (2013). Recommendations for returning genomic incidental findings? We need to talk!
p.000046: Genet Med.; 15:854-859.
p.000046: 110 These questions highlight the fact that our genetic heritage, the DNA sequence that identifies us as in-
...
p.000047: and augmenting our grasp of the living world and for improving the help we are able to give to those who are victims of
p.000047: its dysfunctions.
p.000047: As a result, what seemed to be no more than a technical process, i.e. full genome analysis, could challenge
p.000047: well-established practices or concepts, both medical and social, or could enter into conflict with
p.000047: national or international rules and regulations based on accepted values, thus opening a vast area of ethical
p.000047: debate.
p.000047: Some of these developments aim primarily at improving people’s health and will probably achieve their goal.
p.000047: They also meet a legitimate need for autonomy; attempts to curb their pro- gress to protect people are doomed to
p.000047: failure. And yet, certain relatively foreseeable social de- velopments and risks arising out of genomic analysis
p.000047: should be the subject of the community’s consideration without further delay in order to avoid or minimise them, or
p.000047: take compensatory measures.
p.000047: CCNE would like such consideration to be given to the important subjects for which the ‘genetic revolution’, as it is
p.000047: sometimes called, plays a major role: medical practices, free and informed consent, privacy. We may indeed
p.000047: be faced with a genetic revolution, but this is a change of scale rather than a hitherto unknown set of circumstances.
...
p.000055:
p.000055: Consent is obviously required for the storage of, and access to, genetic data. It cannot, however, have the same
p.000055: impact as in cases where data is collected for a specific purpose since it is as- sumed that
p.000055: interpretation of the genome is work in progress and could reveal, at a later time, in- formation that the researchers
p.000055: had not expected at the time the data was collected.
p.000055: The requirement for free and informed consent — to use the traditional wording which is some- times criticised because
p.000055: it would be more in keeping with the principle of autonomy to use the word ‘choice’ — is the cornerstone of medical and
p.000055: bioethical law. The arrival on the scene of full genome analysis, its ties with research and the evolutionary nature
p.000055: of the knowledge to which it provides access, calls into question the effectiveness, not to say the very existence, of
p.000055: the infor- mation/consent relationship.
p.000055: To which must be added that the existence of unexpected data could render the ‘right not to know’
p.000055: meaningless although good practices seek to perpetuate it, in particular for severe late- onset pathologies.
p.000055: Getting one’s DNA sequenced may be tantamount to imposing the unex- pected on others, blood relatives in
...
General/Other / Incapacitated
Searching for indicator incapacity:
(return to top)
p.000065: good health is harmful to the person concerned who is unable to negotiate a more favourable insurance premium.
p.000065: It was decided, firstly in the draft law on bioethics in 2001 and later in draft legislation on patients’ rights and
p.000065: the quality of the health system, to extend the discrimination157 infraction to genetic characteristics.
p.000065: But it must be added that discrimination based on the state of health, “when relating to death prevention and coverage,
p.000065: risk of disabling personal injury or of work incapacity or disability” 158 are not punishable so that insurers can
p.000065: legally refuse would-be policy holders by reason of their state of health. This exception is due to the fact that an
p.000065: insurance policy is a ‘contract in good faith’ so that a person seeking insurance is bound to “respond truthfully to
p.000065: questions asked by insurers […] regarding the circumstances enabling the company to evaluate the risks it is
p.000065: underwriting” 159.
p.000065: However, information requested by an insurance company only applies to what is known with certainty at the
p.000065: time the statement is made. For this reason two further rules were adopted: on the one hand, insurers cannot make use
...
General/Other / Relationship to Authority
Searching for indicator authority:
(return to top)
p.000024: Medicine: Convention on Human Rights and
p.000024: Biomedicine http://coe.int/Treaty/fr/Treaties/Html/164.htm
p.000024: 57 Ratified by France in 2012 (Article 1 of law n° 2011-814 dated July 7, 2011 on bioethics: “is authorised the
p.000024: ratification of the Council of Europe Convention for the Protection of Human Rights and the dignity of the human being
p.000024: with regard to the applications of biology and medicine: Convention on Human Rights and Biomedicine, signed in Oviedo
p.000024: on April 4, 1997 “ and Decree n° 2012-855 of July 5, 2012) and, therefore ap- plicable in French law, by virtue of
p.000024: article 55 of the Constitution of October 4, 1958: “duly ratified or ap- proved treaties or agreements once published
p.000024: have authority superior to that of laws ...”.
p.000024:
p.000024:
p.000024:
p.000024: Opinion N° 124
p.000024:
p.000024:
p.000025: 25
p.000025:
p.000025: standards for the protection of the dignity of the human person in relation to biomedical scienc- es”58.
p.000025: To understand their significance, the mutual influence on each other of these two categories of rules must be kept in
p.000025: mind. On the one hand, the adoption in 1994 of the laws on bioethics stat- ing “the general principles underpinning
p.000025: the legal status of the human body in order to ensure the dignity of human beings and the protection of the
...
p.000026: laws of the Mem- ber States”. Under the heading of “Protection of personal data, Article 8 states that “1. Everyone
p.000026: has the right to the protection of personal data concerning him or her. 2. Such data must be pro- cessed fairly for
p.000026: specified purposes and on the basis of the consent of the person concerned or some other legitimate basis laid down by
p.000026: law. Everyone has the right of access to data which has been collected concerning him or her, and the right to have
p.000026: it rectified. 3. Compliance with these rules shall be subject to control by an independent authority”.
p.000026: And, under the heading of Non- discrimination, Article 21 prohibits “any discrimination based on any
p.000026: ground such as sex, race, colour, ethnic or social origin, genetic features, ” 65.
p.000026:
p.000026: C- The socio-economic context
p.000026:
p.000026: 1- New types of demands
p.000026:
p.000026: Theoretically, precision medicine based on genomics is in no way antinomic to individual claims for autonomy, insofar
p.000026: as people all wish for themselves or their loved ones the benefit of the best medicine, based on the
...
p.000071: obliged to bypass the ‘safe harbour’ rules of protection and give access to personal data. In consequence, regulations
p.000071: allowing the US authorities generalised access to electronic communications must be viewed as encroaching on the
p.000071: essential content of the funda- mental right to protection of privacy. The Court was also of the opinion that the
p.000071: European Commis- sion approval of the decision in 2000 did not prevent the protection authority of a member
p.000071: State from examining an individual’s request with regard to the protection of personal rights and liberties which had
p.000071: been transferred from a member State to a third country when the individual concerned claimed that the laws and
p.000071: practices in force in that third country did not ensure a level of protection of fundamental rights equivalent to that
p.000071: guaranteed within the European Union.
p.000071: Although some of these rules are still being debated and others are invalidated, the data emerging from clinical
p.000071: medical practices and genetic research is currently regulated by the French law on In- formation Technology, Data Files
...
Orphaned Trigger Words
p.000016: immune system, for instance). It is thought to be involved in some human pathologies such as obesity,
p.000016: diabetes, Crohn’s disease, and also in be- havioural eating disorders, or even depression. Cer- tain studies
p.000016: indicate that there could be a ‘bacterial signature’ associated with a number of diseases, liver conditions in
p.000016: particular ranging from cirrhosis to cancer. The composition and complexity of the microbiota is being
p.000016: approached by large scale se- quencing of the ‘metagenome’ (the collection of genomic sequences contained
p.000016: in a given biotope, regardless of species) since a number of bacteria entering into its composition cannot be
p.000016: isolated and cultured in vitro.
p.000016: phenotypic data (transcriptome, proteome, metabolome) at a given time could make it possible
p.000016: — in line with risk evaluation — to monitor the emergence of a disorder, its progression and its treatment taking into
p.000016: account the complexities of individual environments.
p.000016: While these large scale genotype/phenotype correlations are already technically feasible, they still belong to the
p.000016: realm of research. They are expected to open up the possibility of identifying the cause of pathologies with a genetic
p.000016: component and, as a first step, to identify the biomarkers with which they correlate. It is also expected that they
p.000016: will be able to define the environmental, epigenetic portion so as to pave the way for therapeutic approaches
p.000016: targeting dysfunctions
p.000016:
p.000016:
p.000016:
p.000016:
p.000016: 27 The term transcriptome is used to designate the full set of RNA in a cell or a sample (RNA is transcribed by DNA).
...
p.000018: the individual’s genome. You could compare this phase with putting together a puzzle. The work is done by computers.
p.000018: Annotation/interpretation: This phase consists in seeking out the pertinent information in the se- quence.
p.000018: There are usually two steps in this part of the procedure: automatic annotation (bioinformatics) and manual annotation
p.000018: (tedious verifications). For clinical purposes, the procedure calls for locating the differences between the sequence
p.000018: obtained and a reference sequence and determining the significance of such differences.
p.000018: 33 This is currently under discussion since in some quarters it is felt that sequencing data should not be kept beyond
p.000018: the time frame of the specific analysis or study for which it was acquired. “Use it or lose it” as an alternative
p.000018: approach to protect genetic privacy in personalized medicine. Wagner JK, Mozersky JT, My- eritz RE. 2014. Urol. Oncol.;
p.000018: 32: 98-101.
p.000018: 34 Genetic variants of unknown/uncertain significance (VUS) may be associated with certain genetic dis- eases. The
p.000018: possibility of classifying them as ‘neutral mutations’ or pathogenic ones depends on the num- ber of genetic
p.000018: analyses that have been performed on the gene concerned (size of patient cohorts) and therefore on how
p.000018: much knowledge exists on their significant association with a disease.
p.000018: 35 The expression ‘incidental data’ which continues to be the subject of scientific debate, should only be used for
p.000018: truly fortuitous discoveries, while the expression ‘secondary findings’ should be used for deliber- ate research for
...
p.000028: to a biotechnology company called Genentech for several dozen million dollars.
p.000028: 4- The link between public research and marketable innovation
p.000028:
p.000028: Since the beginning of the new century, there has been a transfer of public research to private research via the
p.000028: proliferation of biotechnology or ‘genomic’ companies, specialising in the dis- covery of human genes and de facto in
p.000028: fundamental research, so that they are selling scientific knowledge rather than products. As a result, the
p.000028: very status of scientific knowledge has changed. Granting property rights to scientific knowledge produced
p.000028: by fundamental research may not only slow down its dissemination, as is the case for patents law which applies to the
p.000028: in- vention of new applications69. There may well be a risk that the actual tempo of the acquisition of knowledge
p.000028: relating to the genome, and consequently of the flow of innovation arising out of its applications, is slowed down
p.000028: as well.70 In fact, be the research public or private, the im- portant point is whether or not it
p.000028: respects the criteria for investment in the production of knowledge in the best general interest and in
p.000028: large-scale dissemination of exploitable research
p.000028:
p.000028: 68 Jordan B. In médecine/sciences, Chroniques génomiques May 2014
p.000028: 69 Grossman G, Helpman E. 1991. Innovation and growth in the global economy, Cambridge (Mass.), MIT
p.000028: Press.
p.000028: 70 Orsi F et Moatti JP. « D'un droit de propriété intellectuelle sur le vivant aux firmes de génomique : vers une
...
p.000044: prepare for and anticipate the test results and thus minimise their traumatic effect which is particularly aggravated
p.000044: by a state of emotional unpreparedness. Such counselling provides the patient with the tools for appropriating the
p.000044: contents of this new knowledge and in particular the various kinds of uncertainty it contains. “Healthy anticipation
p.000044: is conditioned by ac- ceptance of the unpredictable! Moderate and adaptive anticipation is in no way an exact (fanci-
p.000044: ful!) prediction of the future. On the contrary, it is related to a process of symbolisation of the di- versity and
p.000044: complexity of possible scenarios” 104.
p.000044: 4- What forms of consent? For what purposes?
p.000044:
p.000044: Since the adoption of the Nuremberg Code, free and informed consent is the foundation for med- ical and biomedical
p.000044: ethics. Full awareness, true and sincere information are its prerequisites. But as we have seen, the
p.000044: evolutionary nature of the interpretation and comprehension of the ge- nome sequence makes it necessary to consider
p.000044: that it is only when information is anchored in a time frame can it be deemed true, sincere and welcome and that,
p.000044: therefore, free and informed consent also has only a limited lease of life. When people participate in research
p.000044: programmes such as those mentioned above, they are required to give general and unlimited consent which, in itself,
...
p.000048:
p.000048:
p.000049: 49
p.000049:
p.000049: 2- Precision medicine112
p.000049:
p.000049: Progress in genomics is contributing to make medicine move towards a more precise definition of certain therapeutic
p.000049: options and introducing, within certain limits, closer clinical adjustment to a person’s genetic characteristics. For
p.000049: the time being, this approach is still limited and sporadic, but it is full of promise. One step at a time,
p.000049: correlations established between certain pathologies, or subgroups of pathologies and their genetic counterparts are
p.000049: making it possible to diagnose or predict the onset of certain diseases and, in some cases, to treat them. The
p.000049: abundance of infor- mation generated by the full genome analysis is such that knowledge of the existence of genetic
p.000049: variants necessarily precedes knowledge of their import.
p.000049: In view of the risk that information that has not as yet been validated or whose meaning is still unknown is
p.000049: delivered nonetheless, the first duty of geneticists (practitioners and researchers alike) is to avoid making
p.000049: erroneous predictions. Reinforcing the validation process of the perti- nence and safety of the use made of knowledge
p.000049: generated by genome analysis is of primary im- portance, not forgetting to integrate developments in medical
p.000049: evidence based mathematical standards (evidence based medicine).
p.000049: Another point is that it must be noted that precision medicine leads to a subdivision of frequent diseases, for example
p.000049: cardiovascular disorders or diabetes, into subgroups of rare diseases bet- ter described in molecular terms, so as to
p.000049: be able to prescribe appropriate treatment. These de- velopments require specific therapeutic strategies of the same
...
p.000050: objectivity. And yet this does not contradict an understanding of disease as “life at a different pace” even though it
p.000050: seems to call into question the primacy of clinical practice, referred to by G. Canguilhem in the following terms:
p.000050: “...clinical practice is not, and never will be, a science (...) Life standards are not dictated by science”.
p.000050: Can genetics ‘define’ symptom free disease, before the onset of symptoms?
p.000050:
p.000050: There is a real risk that clinical practice, of which precision medicine is now becoming a key el- ement, could inspire
p.000050: practitioners at some time in the future to be content with managing a per- son’s genetic profile. This would be a
p.000050: form of depersonalisation of the doctor to patient rela- tionship. This risk would have to be compensated by medical
p.000050: training which included a holistic conceptualisation of the individual, aiming to care for the human being and not just
p.000050: for a pathol- ogy, and certainly not simply for a genome.
p.000050: 4 -A different relationship with the prevention of disease
p.000050:
p.000050: The new technologies could also accelerate developments in the practice of preventive medicine. But here again, this is
p.000050: not a new departure. The results of measuring arterial blood pressure or blood lipids, cholesterols in particular, do
p.000050: not reveal a disease but rather the risk of disease on- set, such as cerebrovascular accidents or myocardial
p.000050: infarction. A generalisation of predictive genetic tests is helping to increase the distance between a predisposition
...
p.000072: data sharing, and be in a position to provide assurances to citizens that confi- dentiality and privacy are
p.000072: appropriately protected when data are collected, stored, processed, and exchanged"183, in the list of "Ethical
p.000072: and Legal Codes and Policies Guiding Data Sharing Behavior" giv- en in the annex to this document, none of the European
p.000072: legal rules on the protection of personal da- ta are anywhere to be found, while those concerning biomedical research
p.000072: are itemized.
p.000072: One issue that is even more difficult to deal with, however, is the association of ‘big data’ with bio- medical
p.000072: research: this is data from various genetic studies and medical diagnoses, therefore sensitive data which is protected
p.000072: by law as mentioned above, but also data obtained in various contexts and used without being absolutely sure that the
p.000072: individuals involved are aware of this, the data involved
p.000072:
p.000072: 179 Article 25 I. 2° of law n° 78-17 of 6 January 1978, modified.
p.000072: 180 Article 56 para. 2 of law n° 78-17 of 6 January 1978, modified: “in the event of research requiring the use of
p.000072: identifying biological samples, informed and express consent from individuals concerned must be ob- tained
p.000072: previously to data processing.” Law n° 2012-300 of 5 March 2012, related to research involving the human person,
p.000072: which is as yet not in force, provides that “by derogation to Article 16-10 of the Code Civil, first paragraph of
p.000072: Article L. 1131-1, the examination of a person’s genetic characteristics for the purpose of scientific
p.000072: research may be performed using that person’s body components sampled for other purposes, on the condition
p.000072: that the person, having been informed of the research project, has made no ob- jection”.
p.000072: 181 https://genomicsandhealth.org/about-global-alliance and Partage mondial des données génomiques et cliniques:
p.000072: une première étape pour la Global Alliance, Inca, 5 March 2013, http://www.e-
...
Appendix
Indicator List
| Indicator | Vulnerability |
|---|
| access | Access to Social Goods |
| age | Diminished Autonomy |
| authority | Relationship to Authority |
| autonomy | Impaired Autonomy |
| capacity | Fetus/Neonate |
| child | Child |
| children | Child |
| cognitive | Cognitive Impairment |
| crime | Illegal Activity |
| cultural | Cultural Differences |
| culture | Cultural Differences |
| dependence | Drug Dependence |
| dependent | Dependent |
| disability | Mentally Disabled |
| disabled | Child |
| economic | Economic/Poverty |
| education | Educational |
| educational | Educational |
| emergency | Youth/Minors |
| ethnic | Ethnicity |
| faith | Religion |
| family | Motherhood/Family |
| gender | Gender |
| health | Health |
| ill | Physically Ill |
| illegal | Illegal Activity |
| illness | Physically Ill |
| impaired | Cognitive Impairment |
| incapable | Mentally Incapacitated |
| incapacity | Incapacitated |
| influence | Drug Usage |
| justice | Breastfeeding Children |
| language | Linguistic Proficiency |
| liberty | Incarcerated |
| minority | Racial Minority |
| mothers | Mothers |
| neonate | Homeless Persons |
| opinion | Philosophical Differences/Difference of Opinion |
| orientation | Access to Social Goods |
| party | Political |
| police | Police Officer |
| political | Political |
| poor | Economic/Poverty |
| poverty | Economic/Poverty |
| pregnant | Pregnant |
| race | Racial Minority |
| religion | Religion |
| religious | Religion |
| restricted | Incarcerated |
| sex | Gender |
| sick | Physically Ill |
| single | Marital Status |
| social | Social |
| special | Religion |
| substance | Drug Usage |
| threat | Threat of Stigma |
| union | Trade Union Membership |
| victim | Victim of Abuse |
| violence | Threat of Violence |
| volunteers | Healthy People |
| welfare | Welfare Recipient |
| women | Women |
Indicator Peers (Indicators in Same Vulnerability)
| Indicator | Peers |
|---|
| access | ['orientation'] |
| child | ['disabled', 'children'] |
| children | ['child', 'disabled'] |
| cognitive | ['impaired'] |
| crime | ['illegal'] |
| cultural | ['culture'] |
| culture | ['cultural'] |
| disabled | ['child', 'children'] |
| economic | ['poverty', 'poor'] |
| education | ['educational'] |
| educational | ['education'] |
| faith | ['special', 'religion', 'religious'] |
| gender | ['sex'] |
| ill | ['illness', 'sick'] |
| illegal | ['crime'] |
| illness | ['ill', 'sick'] |
| impaired | ['cognitive'] |
| influence | ['substance'] |
| liberty | ['restricted'] |
| minority | ['race'] |
| orientation | ['access'] |
| party | ['political'] |
| political | ['party'] |
| poor | ['poverty', 'economic'] |
| poverty | ['poor', 'economic'] |
| race | ['minority'] |
| religion | ['faith', 'special', 'religious'] |
| religious | ['faith', 'special', 'religion'] |
| restricted | ['liberty'] |
| sex | ['gender'] |
| sick | ['ill', 'illness'] |
| special | ['faith', 'religion', 'religious'] |
| substance | ['influence'] |
Trigger Words
consent
developing
ethics
protect
protection
risk
self-determination
sensitive
Applicable Type / Vulnerability / Indicator Overlay for this Input