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Community discussion and informed guidelines for medical practitioners are needed
MJA 1996; 165: 301-303
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The human genome has now been completely mapped and by the year 2000, virtually all genes will have been isolated and sequenced . . . The technology exists to allow analysis of all persons for mutations causing single gene disorders, probably very early in pregnancy or using IVF . . . [Next] will be predicting risk of multifactorial, common diseases of later life, including cancer.
(Professor Bob Williamson, Director of the Murdoch Institute of Research into Birth Defects. The new genetics -- for good or ill , Dean of Medicine's Lecture Series, University of Melbourne, 1996.)
These developments have enormous potential for good. About 8000 currently recognised single gene defects 1 afflict at least 1% of the population, more than half with serious consequences. In addition, links have been increasingly recognised between genetic factors and conditions such as cancer and heart disease. Many people are already affected by genetic testing. However, genetic testing raises important legal and ethical issues that must be investigated and resolved expeditiously.
Information and consent: General legal principles dictate that genetic testing should be voluntary and based on appropriate information. The High Court of Australia stated in Rogers v Whitaker that a patient is entitled to be informed of "material risks" of a procedure and that a risk is "material" if "a reasonable person in the patient's position . . . would be likely to attach significance to it". 2,3 A patient having a genetic test should obviously be told the purpose and nature of the test, the implications of a positive result and other diagnostic options. As test results may affect other family members, discussion and counselling need to be wider and to include explanations of the information implicit in the family pedigree, as well as who will be told the results and by whom.
If information from medical records or genetic test results is needed from relatives (living or dead), permission should be sought, even if tissue is already available for testing. Although there may be no legal requirement, this respects their autonomy and right to privacy.
Prenatal screening: Prenatal screening of pregnant women for genetic abnormalities such as Down's syndrome is now routine in Australia. However, there is a chance of both false positives and false negatives and, even if a genetic abnormality exists, there are no tests for severity of impairment. As termination itself is a subject of debate, testing and termination of pregnancy should remain voluntary, and a woman who chooses not to terminate a pregnancy should not be penalised by health or social welfare providers.
Confidentiality and access to information: Genetic information may have serious consequences, not only for patients, but also for their families. Although pretest counselling would encourage most patients to share results with their family, some may refuse permission for disclosure. An amendment to the Australian Medical Association Code of Ethics in February 1996 acknowledged that "Exceptions [to the obligation of confidentiality] may arise where the health of others is at risk . . . ". 4 The law also recognises that it may be lawful to breach confidentiality where there is a serious risk to others (note that the law requires the risk to be "serious"). 5 Thus, it is arguable that a doctor who knows a patient carries a harmful genetic mutation would be justified, both ethically and legally, in advising a relative who could take measures to avoid or minimise disease, or who is about to start a family, to undertake testing for the mutation. Indeed, it may be argued that genetic information is "common" to the family, rather than "belonging to" the individual alone, so that a doctor might be justified in always telling family members that the genetic mutation exists in the family (but not that a particular person has, or does not have, the gene).
Of course, even people who have been tested may not wish to know the result. For example, many people do not want to know that they will develop a late-onset illness for which there is no treatment, such as Huntington's disease. Both ethics and law support this; patient autonomy entitles people not to know, just as much as to know.
Use of genetic information: Life and disability insurers may require that genetic test results be disclosed for risk classification before cover is granted; currently, they do not initiate genetic tests. The Life, Investment and Superannuation Association of Australia states: "Effective underwriting relies upon an assessment of all factors that impact upon the life to be insured." 6 The Association considers that an applicant for insurance who has information that the insurer does not have (such as genetic test results indicating a high risk of premature death) should not be permitted to "anti-select" against the insurer by taking out a very large insurance policy. Denying insurers genetic information could cause a "shift in the risk profile of people taking out insurance". 6
However, others may be concerned that the "genetically handicapped", who are perhaps in most need of disability cover, will find it unobtainable or very expensive. Perhaps, people seeking genetic tests should be warned that they will have to supply results to an insurer if they apply later for insurance; they may be better advised to obtain insurance before rather than after the test.
Employers and government agencies, such as the police, may also seek access to genetic information, so it is essential that it be held securely, with strict controls on its potential applications.
How to resolve these issues: In Australia, various recommendations have been made 7-12 or are being considered. The Cancer Genetic Ethics Committee of the Australian Cancer Network and the Anti-Cancer Council of Victoria, chaired by Professor Emeritus Richard Lovell, is currently preparing guidelines for genetic testing in relation to cancer. The Australian Research Council has given a three-year grant for research and report on legal issues related to the Human Genome Project, and many conferences have been held on related issues (e.g., Community and the New Genetics, convened by the Human Genetics Society of Australasia in 1995).
However, more thought should be given to developing integrated Australia-wide policies and to involving patients and the general community in decision-making. Traditionally, new medical research has been regulated through ethical guidelines prepared by the National Health and Medical Research Council (NHMRC). Although these do not have the force of law, they are generally observed and are flexible, being readily amended in the light of experience and community opinion. The guidelines being prepared by the broadly based Cancer Genetic Ethics Committee, informed by detailed legal and ethical research, could provide the foundation for NHMRC guidelines and community discussion. It is important to get the ethics right first. If legislation is needed on specific topics, it can be developed later.
Loane Skene
Associate Professor and Director of Studies,
Health and Medical Law,
Law School,
University of Melbourne, Melbourne, VIC.
Max Charlesworth
Emeritus Professor of Philosophy,
Deakin University, Geelong, VIC.
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