Hum. Reprod. Advance Access originally published online on September 23, 2004
Human Reproduction 2004 19(12):2695-2701; doi:10.1093/humrep/deh505
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Regulatory approaches to reproductive genetic testing
1 Centre de Recherche en Droit Public (CRDP), Faculté de Droit, Université de Montréal, CP 6128 succ., Centre-ville, Montreal, Quebec, Canada H3C3J7
2 To whom correspondence should be addressed. Email: knoppers{at}droit.umontreal.ca
This report analyses the ethical and legal aspects of reproductive genetic testing in 11 countries (Australia, Austria, Canada, France, Germany, India, Israel, Japan, The Netherlands, Switzerland and the UK). The legal status of reproductive genetic testing in the countries under analysis is difficult to generalize due to the different regulatory systems adopted. These approaches are a reflection of the legal traditions and cultural and socio-religious beliefs which inform and shape public policy on assisted reproductive technologies and genetic testing. We divide approaches into two groups: public ordering (legislative, top-down approach) and private ordering (non-legislative, bottom-up approach). Even limiting our analysis to a number of countries that span the range from restrictive to pragmatic approaches, there is remarkable symmetry in both the (i) substantive requirements (i.e. gravity, health indications generally) and (ii) procedural safeguards (i.e. informed consent, counselling, confidentiality, civil status, oversight and accreditation) surrounding reproductive genetic testing. Indeed, irrespective of whether a country adopts a prohibitive or a permissive approach through legislation or self-regulation or a mix of both, the ultimate decision is—and should continue to be—a medical one. Nowhere is this more evident than in the substantive requirements.
Key words: genetic testing/legal and ethical aspects/policy/preimplantation genetic diagnosis/prenatal testing
1Australia, Austria, Canada, France, Germany, India, Israel, Japan, The Netherlands, Switzerland and the UK.
2See in general, http://www.humgen.umontreal.ca/ for a comprehensive international database on legal, social and ethical policy statements related to human genetics.
3See, Israel, ‘Genetic Information Law No. 5761’ (2000), ‘Surrogacy Agreements Law No. 5756’ (1996), ‘National Health Regulations on IVF’ (1987), ‘Rules as to the Administration of a Sperm Bank’ (1992) and Guidelines for Performing Artificial Insemination (1992).
4Indian Council for Medical Research (ICMR), ‘Statement of Specific Principles on Human Genetics Research’ (2000) and India, the Pre-natal Diagnostic Techniques, Regulation and Prevention of Misuse, of 1998 (amended 2003).
5Australian Medical Association, ‘Human Genetics Issues’ (2000): ‘Genetic Testing of pre-implantation embryos or of a foetus should be restricted to fatal or seriously and permanently disabling disease’.
6See, United Kingdom, Human Fertilisation and Embryology Authority and Advisory Committee on Genetic Testing, ‘Consultation Document on PGD’ (2000) and South Australia Reproductive Act, ‘An Act to regulate the use of reproductive technology and research involving experimentation with human reproductive material’ (1988).
7In Japan, professional guidelines recommend PGD in cases where both parents are carriers of ‘severe’ autosomal dominant or recessive, X-linked disease. Japan Society of Human Genetics, Guidelines for Genetic Testing (2001).
8France, Law No. 94-654, governing the donation and use of elements and products of the human body, medically assisted reproduction, and prenatal diagnosis (29 July 1994): ‘A physician practicing in a plurisdisciplinary Antenatal Diagnosis Centre (...) must certify that, because of the couples family circumstances, there is a strong probability that the unborn child will be affected by a particular severe disorder, known to be incurable at the time of diagnosis’; article L2131-4 (author's translation).
9France's Code of Public Health allows late abortion when there is a ‘high probability for the child to be affected by a particularly serious disease considered incurable at the time of the diagnosis’, art. L 2213-1.
10Swiss Academy of Medical Sciences, Medical–Ethical Guidelines for Genetic Investigations in Humans (1993): ‘Medical indications for genetic investigations (genetic tests) are ethically justified if they serve the following purposes (....) determination of a predisposition for an hereditary disease or handicap, with a view to appropriate planning for the life of the individual, and family planning', Section 2.
11Government of India, Department of Biotechnology, ‘Ethical Policies on the Human Genome, Genetic Research and Services’ (2001): ‘When genetic testing of an individual reveals that he/she has a predisposition to suffer disease or disability in the future, then the tested individual shall have the right exercised by freedom of choice whether to be informed of the result of the testing’, Section 2.
12Japan Society of Human Genetics, ‘Guidelines for genetic testing’, (2001): ‘Pre-implantation testing/diagnosis is one of the genetic tests. When (a) either parent is a carrier of chromosomal abnormality, or (b) a carrier of severe autosomal dominant disease, or (c) both parents are carriers of severe autosomal recessive disease, or (d) the mother is a carrier of a severe X-linked disease, and, in addition, (e) does not wish for a genetic abortion.’
13For example in Israel under the ‘Genetic Information Law’ No. 5761 (2000), genetic testing of a minor, ward or incompetent persons can be carried out only to ‘clarify the existence of a carrier gene of a disease or handicap which, according to reasonable medical assessment, can be prevented, or the spread of which can be delayed, or the state of the minor, ward or incompetent persons can be improved or advanced’, art. 24 (2).
14See, Japan Society for Human Genetics. Guidelines for Genetic Counselling and Prenatal Diagnosis (1996): ‘Invasive prenatal test/diagnosis procedures, such as chorionic villus sampling and amniocentesis, should be considered when the mother wishes to have a test/diagnosis in the following situations: (a) if either one of the parents is a carrier of chromosomal abnormality, (d) if the pregnant woman is heterozygous for a serious X-linked disease, (e) if both of the parents are heterozygous for a serious autosomal recessive disease, (f) if either of the parents is heterozygous for a serious autosomal dominant disease.’
15Australia, National Health and Medical Research Council (NHMRC), ‘Ethical Aspects of Human Genetic Testing: An Information Paper’ (2000): Article 2.8 on Equity of access to genetic testing states that ‘access to genetic services which have been shown to have potential to provide significant health benefits should not be dependent on where a person lives or on their socio-economic status.’
16The European Convention on Human Rights and Biomedicine (1997) states that ‘tests which are predictive of genetic disease or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counseling’, article 12.
17The UK's Human Genetics Commission (HGC) in its ‘Response to the Human Fertilisation and Embryology Authority on the Consultation on preimplantation genetic diagnosis’ (2001), attempts to define the notion of ‘seriousness of inherited conditions’ as follows: ‘Decisions about the seriousness of a condition should be made by the parents in collaboration with clinicians. In this process: disabled people and parents of disabled children should be involved in putting together information for prospective parents about the reality of living with a disability. Information should be clear and accessible. Relevant patient organisations, many coming under the Genetic Interest Group (GIG) umbrella, provide a source of written information and practical support for couples making reproductive decisions.Decisions on the use of PGD should depend on many things, including:
- the clinical burden which is a composite of:
- the parents' view of the condition,
- the likely degree of suffering associated with the condition, the availability of effective therapy or treatment,
- the speed of degeneration in progressive disorders,
- the extent of any intellectual impairment;
- the sensitivity and specificity of the tests in general and in the hands of the local team;
- the individual circumstances of the family or woman, including other siblings.'
18Government of India, Department of Biotechnology, ‘Ethical Policies on the Human Genome, Genetic Research and Services’ (2001): ‘When genetic testing of an individual reveals that he/she has a predisposition to suffer disease or disability in the future, then the tested individual shall have the right exercised by freedom of choice whether to be informed of the result of the testing’, Section 2.
19See, Canadian College of Medical Geneticists, the Canadian Association of Genetic Counsellors, the Canadian Nurses Association, the College of Family Physicians of Canada and the Genetic Committee of the Society of Obstetricians and Gynaecologists of Canada, ‘Practice Guidelines for Health Care Providers involved in Prenatal Screening and Diagnosis’ (1998) and Canadian Fertility and Andrology Society and Society of Obstetricians and Gynaecologists of Canada. ‘Joint Policy Statement, Ethical Issues in Assisted Reproduction.’ (1999).
20Australia, Austria, Canada, France, Germany (only married couples), India, Israel, The Netherlands, Switzerland and the UK.
21Legislation in Australia, Canada, Germany, India, The Netherlands and UK.
22See Knoppers BM (2000) Reflections: The Challenge of Biotechnology and Public Policy. 45 McGill L. 559, and Knoppers BM and Le Bris S (1994) Genetic choices: a paradigm for prospective international ethics? Pol Life Sci 13, 228–230.