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Genetics and health: the legal issues

Diane Longley
LLB(Hons) MA in Socio-Legal Studies
Senior Lecturer
Department of Law
University of Sheffield

It is possible that genetics may revolutionise the provision of healthcare in the future.(*) Advances in both the potential and application of genetics to a number of fields of clinical practice in recent years have already raised expectations and much public debate. Such developments have often caught the law and those who formulate it unprepared. Possibly because of the uncertainty of some of the ethical dimensions of genetics, responses from the associated legal perspective have been slow.

*The inherent potency of genetics led the government to establish the Human Genetics Commission in 2000 as an umbrella organisation to consider the social, ethical and legal issues of new developments in human genetics and the impact on people and healthcare. See

Yet the response of law to the issues surrounding genetics and health and the form it takes is a crucial factor. It is law that will be called upon to protect individuals from the risks and potential abuse of developments in genetic knowledge, and provide the means of recompense where these are apparent. At the same time, law must not present so high a hurdle that the development of health benefits is delayed or never realised. Such a balancing act is likely to be problematic.(1)
The advent of genetic medicine clearly presents a challenge for law, a challenge that encompasses the extent to which genetic medicine and genetic information may be used, and more specifically, the degree to which the law's approach to two of the cornerstones of medical activity - consent and confidentiality - require reappraisal.

Uses of genetic medicine
Although in theory gene therapy holds the promise of remedying genetic disease, none of the techniques of gene therapy is as yet unproblematic, and the regular application of corrective gene therapy is far from imminent. All gene therapy is currently regarded as research and is treated as such for the purposes of regulation. Gene therapy protocols are assessed on a case-by-case basis and must gain the prior approval of the Gene Therapy Advisory Committee (GTAC), which will at present consider only somatic and not germline gene therapy.(2) Protocols must in addition pass through the other usual approval channels for medical research.(*)

*This may involve, for example, local and multicentre research ethics committees, the Medicines Control Agency,
and other relevant bodies, depending on the context of the research

Much the same is true for xenotransplantation, in which animal tissue may be genetically modified to reduce rejection when grafted into humans. The regulatory scheme imposes a number of safeguards on xenoexperimentation. Prior approval must be given by the Secretary of State before treatment can be commissioned or offered. Further, the UK Xenotransplant Interim Regulatory Authority (UKXIRA) and other relevant bodies must give their approval before any trial or treatment may begin.(†)

†This largely follows the recommendations of the Advisory Group on the Ethics of Xenotransplantation in Animal Tissue in Humans 1996, which established the UKXIRA. The government also produced Guidance on Making Proposals to Conduct Xenotransplantation in Human Subjects in 1998

A fundamental issue in both the above procedures is that of consent of the patient. Contrary to belief, informed consent as a legal principle is an elusive concept that has been given little consideration in English cases. It is far from certain how much information health professionals would be required to give patients for gene therapy and xenotransplantation purposes. Bearing in mind the complexity, novel and far-reaching aspects of both procedures, it is likely that the courts would apply a higher than previously exercised standard.(*) How researchers manage the issues of consent in a situation where voluntariness may be doubtful, where there may be a risk of transmission of disease to the patient and others, and where there may be a need for long-term monitoring, postmortem and possible extensive publicity should be a paramount concern.(3)

* The Clothier Committee recommended patients should be able to take full account of the risks and benefits and be able to seek the advice of someone unconnected with the research or therapeutic team

Further, the lack of a statutory basis for the regulation of gene therapy and for xenotransplants, and the need for parallel applications, may be criticised for being confusing and overbureaucratic compared with that for embryo research.
Embryo research is one of most controversial yet closely regulated areas of genetics. Genetic testing and research on embryos is permitted under certain conditions by the Human Fertilisation and Embryology Act 1990, and is overseen by the Human Fertilisation and Embryology Authority (HFEA).
Preimplantation genetic diagnosis (PGD), the genetic testing of IVF embryos, is presently used to detect serious genetic defects that will give rise to an inherited disorder where there is known risk. PGD is also permitted for  determining the sex of an embryo where the family is at risk of passing on a serious sex-linked disorder.(†)

† Sex selection for social reasons has been rejected by the HFEA

As the range of possibilities for PGD grows, so does the issue of the extent of its limits. What degree of disability or disorder should trigger access to PGD? The HFEA and the former Advisory Committee on Genetic Testing issued a consultation document to explore whether and how PGD should be used. The results of the exercise were then considered by a joint working party of the HFEA and the Human Genetics Commission (HGC), which has recommended that PGD should be limited to specific and serious conditions, and that careful consideration be given to the information given to parents.(4)
However, uncertainty remains regarding the definition of "serious". At present, centres licensed for PGD apply the same criteria for seriousness as those used for the termination of pregnancy for fetal abnormality, but it has not been defined in abortion legislation, nor has it been interpreted by the courts.(*) Further, the analogy between PGD and prenatal testing may not necessarily be appropriate. The different context may result in regulatory uncertainty.

*The HGC lists some factors to be taken into account and suggests that advances in PGD are kept under review so that guidance may be updated

Besides PGD, embryo research is permitted for a number of purposes, including the furtherance of knowledge of gene and chromosome abnormalities. Recently regulations extended permissible embryo research for the purpose of increasing knowledge about serious disease generally. The aim of the latter is to gain a better understanding of cell physiology and the development of cell lines and tissue from embryonic stem cells (the most potent stem cells). This might ultimately assist regeneration of diseased tissue and organs. All such research must be licensed by the HFEA,(†) and embryos may be used only up to the appearance of the "primitive streak", at about 14 days development.(ƒ)

† HFE Act 1990. Section 11
ƒ HFE Act 1990. Section 3

One means of obtaining embryonic stem cells is from spare IVF embryos.(§) Another source would be to create embryos specifically for the purpose by cell nuclear transfer of ova, a method of cloning.

§ With the specific consent of those who provided the gametes. HFE Act 1990. Schedule 3, paragraph 6(3)

For some time there has been considerable doubt about whether the 1990 Act actually prohibits use of this method.(5,6)  If it does not then cell nuclear transfer of ova would be unregulated and outside the remit of the HFEA.(¶) Recently, in November 2001, the court held that the ambiguity of the definition of embryo in the 1990 Act meant cloning by cell nuclear transfer in ova, for either reproductive or therapeutic reasons, was indeed left unregulated.(7) The government has acted quickly to close the loophole, at least in part, and has introduced the Human Reproductive Cloning Act 2001, which will specifically prohibit the placing of an embryo, produced by means other than fertilisation, into the uterus of a woman. The case itself has gone to appeal, and only time will tell whether the regulatory framework will need further modification.(*)

¶ A view not accepted by either the HFEA or the government
* In the meantime researchers would be unwise to proceed with such procedures without an HFEA licence

Use of genetic information
Testing and screening for an increasing number of genetic diseases is already well established in clinical practice.(†) But the uses to which the genetic information obtained is put raise some interesting issues in relation to consent and confidentiality, as well as the purposes for which genetic testing should be allowed. Arguably, genetic information is useful only if it can assist in avoiding deterioration of health or improve it, whether individually or generally, enabling informed therapeutic, reproductive or health policy decisions to be made. Otherwise, it might merely add to the inherent uncertainties of predicting ill-health and could lead to discrimination.(ƒ)

†Testing involves the individual patient; screening involves populations
ƒSee "Whose Hands on Your Genes?" HGC 2000 at

The impact of genetic testing is so important that it is crucial that those tested fully understand the implications of choosing to take the tests.(§) Tests provide information not only about individuals, but also about their families, and have the potential to affect identity, privacy and relationships. Should consent therefore be obtained from all those affected by the test or just the person directly involved, and to whom might genetic information be legitimately imparted?

§ Guidance on testing procedures is at the moment left largely to professional bodies. All of these recommend testing for diagnostic and therapeutic rather than predictive purposes and state that counselling should beavailable for those considering testing so that the implications are understood

The latter is governed by the law of confidentiality, but the basic prohibition on nondisclosure is not absolute as there are statutory exceptions and a defence to disclosure exists in common law. Under what circumstances might the disclosure of genetic information without the permission of the individual be justified? Could the defence of public interest apply to disclosure of genetic information in exceptional circumstances, where a patient is not persuaded to give consent?(8)(*)

*British Medical Association advises that it could

The courts have not yet had to decide the matter of whether it would be in the public interest for a health professional to disclose genetic information to a third party to prevent or ameliorate the effects of genetic disease directly. In any court consideration, the potential degree of harm to the third party would be a fundamental factor, as would the possibility of the third party being able to avoid or lessen the harm. The difficulty for the court in trying to assess these factors would be the unpredictability of the nature of genetic disease, its onset and severity, and the likelihood of readily available therapy. Currently, much of this is unlikely to be ascertainable. Consequently the only acceptable rationale for disclosure would be to prevent harm by enabling a third party to make an informed decision about reproduction.(9)
Much of the potential of genetic medicine is essentially at the research stage. It is a field of inherent uncertainty. Only time will tell if genetics is to become the new panacea of healthcare. In the meantime it is crucial that the issues are fully addressed at a number of levels and in different settings. Only then can the proper mechanisms necessary for negotiation between protection from the risks of genetic medicine and gathering of information on the one hand, and promotion of health benefits on the other, be put in place. Finally, for those cynical of law's role, the assurance that controversial medical developments and practices are properly sanctioned and monitored by a potent regulatory framework not only assists public acceptance of "cutting edge" clinical practices: it also protects clinical practitioners from unwarranted litigation.


  1. Brownsword R, Cornish WR, Llewelyn M, editors. Law and human genetics: regulating a revolution. Oxford: Hart Publishing; 1998.
  2. The Committee on the Ethics of Gene Therapy (The Clothier Committee) (Cm 1788); 1992.
  3. Caulfield TA, Robertson GB. Xenotransplantation: consent, public health and Charter issues. Med Law Int 2001;5(2):81-99.
  4. HGC. HGC first annual report. November 2001; Annex F.
  5. Kennedy I, Grubb A. Medical law. 3rd edition. Oxford: Butterworths; 2000. p. 1247-67.
  6. Lee R, Morgan D. Human fertilisation and embryology: regulating the reproductive revolution. Oxford: Blackstone Press; 2001. p. 91-6.
  7. R v Secretary of State for Health ex parte the Pro Life Alliance 2001.
  8. BMA. Human genetics: choice and responsibility. London: BMA; 1998. p. 70-2.
  9. Ngwena C, Chadwick R. Genetic diagnostic information and the duty of confidentiality: ethics and law. Med Law Int 1993;1:73-95.

Department of Health Genetics Section
Human Genetics Commission
UK Forum for Genetics and Insurance