March 21, 2003

Test Cases: Sam Samaratunga Looks At Current Legal And Regulatory Issues In Genetic Testing

Solicitors Journal,

The DNA revolution has been driven forward at an increasingly rapid pace by the sequencing and mapping of the human genome by a consortium of 16 institutions (including the Wellcome Trust and The Sanger Institute in the UK) and rapid advances in technology in the field of genetics. These developments have brought with them legal, ethical, moral, philosophical and clinical dilemmas to those involved, as well as the public. Advances in genetics are likely to have an increasing impact on society whether it is in the form of genetic testing, patenting, pharmacogenetics, pharmacogenomics, gene therapy or proteomics.

The number and types of genetic tests available are expanding daily and already include tests for a single gene defect, pre-symptomatic screening tests, 'lifestyle tests', pre-implantation genetic diagnosis, pre-natal diagnosis, and paternity testing or forensic testing, to name but a few.

Any such test will generally result in the production of genetic information (by means of the analysis performed on the sample). This result could have implications not only for the individual, but for the family, blood relatives and other family members as well as insurers, employers and the healthcare system. It will be for the courts to decide who should have access to such information, whether there is a 'right to know', as well as 'not to know', when there are duties to disclose and not to disclose, and where the balance between individual privacy and public interest lies.

Existing applicable law

One of the critical problems attached to DNA and genetic information is whether the applicable law should be that relating to property, intellectual property or information.

The assertion of intellectual property rights over DNA sequences is leading to increasing debate and dispute as shown byKirin-Amgen Inc v Hoechst Marion Roussel Ltd [2002] EWCA Civ 1096 and the ICOS decision OJ EPO 6/2002 203 at the European Patent Office. Some member states have also delayed in transposing the EC Directive 98/44 on the legal protection of biotechnological inventions into national law (the UK has transposed the Directive already). This, however, relates generally to the 'gene sequence' of DNA and is an area worthy of detailed discussion in a separate paper.

In the UK, the law relating to genetic information has traditionally been the common law of confidentiality, which attempts to prevent the misuse of information. Remember not all genetic data is sensitive (eg eye colour) and not all non-genetic data is non-sensitive (eg HIV status). It is likely the Data Protection Act 1998 (which sets out special rules applicable to 'sensitive personal data'), the Human Rights Act 1998 (HRA) and the European Convention on Human Rights (ECHR) (in particular by development of the embryonic law of privacy and reference to Art 8, the right to a private life) will play an increasing role in determining the outcome of legal disputes relating to genetic information.

In the forensic field, the Criminal Justice and Public Order Act 1984 amended the Police and Criminal Evidence Act 1984 (PACE) enabling the setting up of the National DNA Database. It defined the nature of intimate and non-intimate samples, the circumstances in which such samples could be taken, when consent is required, whether force could be used, the circumstances in which the samples had to be destroyed and the purposes for which information derived from such analysis could be used. There have been further amendments under the Criminal Evidence (Amendment) Act 1997 and, controversially, s 64 of the Criminal Justice and Police Act 2001 amended s 82 of PACE to remove the obligation to destroy samples taken on suspicion of involvement in an offence when the person was not subsequently prosecuted or was acquitted.

This amendment has already been challenged. In R v (1) Chief Constable of South Yorkshire (2) SoS for the Home Department, ex p S; R v (1) Chief Constable of South Yorkshire (2) SoS for the Home Department, ex p Marper [2002] EWCA Civ 1275 the claimants, who had been arrested and charged but not convicted, sought judicial review of the decision of the Chief Constable of South Yorkshire to refuse their request for the destruction of DNA samples taken from them. The Chief Constable relied on s 64 of PACE and the claimants sought judicial review, citing s 6 HRA and stating that s 64 PACE could not be interpreted in a way that was compatible with Arts 8 and 14 ECHR. The Divisional Court dismissed the applications. On appeal, the Court of Appeal upheld the ruling of the Divisional Court and held that police powers to retain fingerprints and DNA data and samples of those who have been investigated but not convicted of an offence comply with the HRA.

It remains to be seen how other legislation which could be relevant will be applied. This includes the Public Health (Control of Disease) Act 1984, the National Health Service (Venereal Diseases) Regulations 1974, the Road Traffic Act 1988, s 60 of the Health and Social Care Act 2001 and the Freedom of Information Act 2000 (which will be in fully in force by 2003).

Existing regulatory framework

This legislation is supported by a number of bodies and agencies involved in the regulation of genetics, including the Human Fertilisation and Embryology Authority (HFEA), the National Institute for Biological Standards and the Medical Device Agency (MDA).

The Human Genetics Commission (HGC) is an advisory, not regulatory, body set up in 1999 to advise on legal, social and ethical aspects of human genetics. It consists of scientific (clinical, research and genetics) and 'lay' (law, ethics, consumer, sociology and disability rights) members as well as representatives from the HFEA, the Chief Medical Officers, the Department of Health and the Office of Science and Technology. Its work on personal genetic information included a report 'Whose hands on your genes' (November 2000), followed by a large-scale consultation exercise involving responses from individuals and organisations. This culminated in the HGC's report, 'Inside Information: Balancing interests in the use of personal genetic data' (May 2002), which considered the general principles relating to confidentiality and consent and analysed the existing provisions within the Data Protection Act 1998 and the various professional codes of conduct, in relation to genetic information.

The report made recommendations on wider nonmedical uses (insurance, forensic uses and paternity testing), that consideration be given to a new offence of wrongfully obtaining DNA information and the implementation of legislative measures to protect against genetic discrimination.

Current developments

Biobank UK

In September 2002, the UK government-funded Medical Research Council launched the UK national stem cell bank (Biobank UK), intended to provide researchers with stem cells for research into serious diseases. It is envisaged that the bank will carry both embryonic and adult stem cell lines. To obtain this material it will need to obtain blood samples and analyse the genetic material of 500,000 volunteers, as well as their NHS medical records. One of the concerns raised by many - including the HGC - is obtaining volunteers' consent, in particular whether informed consent can properly be given for a population database such as this. The HGC is in discussion with those planning the research database to address these issues and the consent forms being devised by the HFEA for the Biobank project should be available soon.

Over the counter genetic testing

In September 1997, the Advisory Committee on Genetic Testing (ACGT), now part of the HGC, produced a code of practice for genetic tests supplied direct to the public (Advisory Committee on Genetic Testing: Code of practice and Guidance, Human Genetic Testing Services Supplied Direct to the Public, September 1997) but this code was designed mainly for tests to detect the carrier status of single gene disorders such as cystic fibrosis. The internet has created a global marketplace and some companies offering genetic tests for sale online. Genetic tests are also being offered for sale through the post and even in high street shops. Although most of these tests require the involvement of a doctor or other healthcare professional, a number have been sold direct-to-consumer, bypassing such involvement.

These new 'lifestyle tests' generally test for 'health status' and have raised concerns ranging from the quality of the laboratory used for testing, the accuracy of the testing methods, the appropriateness of marketing and advertising strategies, to the provision of counselling when relaying the results of such tests. In response the Government has asked the HGC to urgently review genetic testing services supplied direct to the public and produce a report by the end of 2002. A consultation document (Human Genetics Commission: The supply of genetic tests direct o the public - a consultation document, July 2002) was widely circulated which set out the scope of the review and posed a number of questions about the existing controls, possible future developments and the position in other countries or in comparable areas of health and consumer protection. The deadline for responses closed on 4 October 2002 and the final report is eagerly awaited.

The public concern over such tests is highlighted by Health Which?, December 2002, which says some tests are misleading and unreliable and should be withdrawn from sale. It expressed concern that people would be presented with a potentially shattering result without explanation, support or counselling from a health care professional.

Genetic sex-selection

Finally, the HFEA have launched a three-month consultation (Sex Selection: choice and responsibility in human reproduction, HFEA, October 2002) asking if it is right that people should be able to use assisted reproductive techniques to choose the sex of their child and if so, why. Sex selection can be performed at three stages: preconception (where sperm are sorted to create male and female embryos), pre-implantation (where an embryo created by IVF is tested to select the sex) and post-implantation (where the foetus can be tested to determine the sex). While pre-implantation testing of embryos is closely regulated in the UK, sperm sorting, unless it involves the use of sperm donor or IVF, is not regulated and would require an extension of the existing legislation. It is interesting to note that Art 14 of the Oviedo Convention (Council of Europe Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine 1997) (to which much of Europe has signed up, although not the UK) does not permit sex selection, except where serious hereditary sex-related disease is to be avoided. As with most topics concerning genetics, this raises a number of ethical, legal and regulatory issues and highlights another area involving genetic testing which requires the attention of the public. +


The debate over current issues involving genetics will continue unabated and is something that should be encouraged among those involved in this area, whether politicians, scientists, lawyers, philosophers, ethicists or members of the public, including those affected by diseases with a genetic link. The technology in the field of genetics has advanced so far that the current legislation and regulatory provisions are struggling to cope with the issues that are thrown up at frequent intervals. This area of science, however, will continue to experience rapid change and future developments in technology will no doubt open up other topics of debate not covered by regulation or legislation.

The reports from consultations, the publication of the green paper on genetics and the NHS and a UNESCO instrument on genetic data, are promised and should be welcome additions to the debate. The challenge for those charged with the responsibility of regulation will be to find the best method to allow the balancing of the interests of the individual and the public, while at the same time being flexible enough not to stand in the way of scientific innovation and progress.

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