Comments—Issues paper on Protection of Human Genetic Information

On 31 January 2002, the Australian Academy of Science made the following comments to the Australian Law Reform Commission and Australian Health Ethics Committee to the issues paper on Protection of Human Genetic Information.

This document (Protection of Human Genetic Information, Issues Paper 26, October 2001, access via ALRC home page at raises important issues for those engaged in scientific and medical research in Australia, and for the wider community. Although the Academy makes a number of suggestions for changes in approach, we compliment the ALRC/AHEC on its general vision and the comprehensive nature of the Issues Paper.

Research using the data generated by the human genome project will allow the identification of many genes that are involved in health. This research requires access to medical data and gene samples from those who are well and those who are ill. There are concerns in the community that these data should not be used to the detriment of individuals. The Academy wishes to emphasise (and to see the final report emphasise) that there is no contradiction or division between the interests of the wider Australian community and the interests of scientists and doctors involved in research in human genetics. Australia has always been very proud of its contribution to world health research. Our unique and excellent health care system and our unique populations will enable us to play a very important role in the study of the interactions between genes and environment in the context of human health. The potential of this research for improving health in our community is great, and must be our major concern for the future. All recommendations should be examined in the context of whether they facilitate improving human health for our community and our world. If problems with regard to privacy or ownership arise, these should be solved in a way that does not impede the progress of research that improves community help and facilitates the international profile of Australian science.

The Academy is aware that associated bodies such as the Human Genetics Society of Australasia and the Australian Society for Medical Research will be preparing detailed commentaries. As the summit body representing Australian science as a whole, the Academy will not comment in detail on all issues in the report, but will confine our comments to specific issues.

Chapter 2: The Uniqueness of Genetic Information. The Academy does not subscribe to the view that genetic information is, for the most part, inherently different from any other form of biological or medical information. It is, and has always been, a central part of clinical practice to “take a family history”, which is another way of asking for genetic information. If genetic information is obtained in the course of treating a person with an illness, this information should be accorded no different status from any other clinical information. To give two examples, if an infant is diagnosed as having cystic fibrosis by a gene analysis rather than by a (less accurate and more painful) sweat test, this gene result must not be treated any differently than any other clinical result. If a biopsy from a tumour is analysed using DNA probes to determine the primary cell type and mutation involved, whether for immediate information to help with choosing the best therapy or to provide long term information on the best way to achieve a good outcome, this requires no special consideration. In both cases, we are looking at good clinical practice.

It is particularly important that clinical pathology and epidemiology are not hindered by new restrictions on the use of clinical data and samples. To describe the use of data from patients to determine the best possible treatment outcomes as “research” is only of value if this facilitates the use of the data, rather than restricting its use. Australia has a world reputation for its pathology and epidemiology, and the use of these databases and tissue samples must be encouraged. It would be particularly unwelcome to the future of health care in our community, even harmful, if pathology samples from those who have died of, for example, cancer were to be “off limits” for functional genomics research.

Occasionally, revealing a genetic result could lead to discrimination (such as a finding that a young person carries a mutation that may cause Huntington disease, or Alzheimer disease, or breast cancer). These are very rare situations, and each of these rare diseases carries its own problems. The issues are best dealt with by specific protection against inappropriate discrimination, and not by blanket “over the top” rules covering the great majority of health research using the new genomic techniques.

A National and Uniform Approach. The Academy is aware that any national uniform approach in the area of health raises constitutional issues, as regulation of health care is a State responsibility. However, it is in no one’s interest to have a situation where regulation of biomedical research differs from one State to another, nor where rights are protected differently in different States. The Academy believes that regulation should be national. The Academy also notes that this area of research is moving very quickly, and that laws can be difficult to amend if they no longer reflect the state of scientific knowledge and medical practice. Therefore, we urge the creation of an Australian Standing Advisory Body with both public and professional representatives to regulate issues in this area, similar to the UK Human Genetics Commission (section 2.151ff in the document). It is important that discussions of matters of principle by this body should be conducted in public, so that the public is aware of the issues and the way in which differences of opinion are resolved.

Chapter 4: The Relative Importance of Privacy. The Academy reiterates its view that privacy is not the only, nor even the most important, issue when it comes to medical information, if the information is relevant to improving the health of the community. For instance, no one argues that a person has a right to maintain silence over developing Legionnaire’s disease, or that a hospital can maintain secrecy about an outbreak of methicillin resistant staphyloccus aurea infection, nor that there is a “right not to know” in these circumstances. Australia has a compulsory notification system for cancer incidence, and death, that is regarded as an international model. Pathologists are encouraged to study tissue samples from patients to determine the causes of disease and death; this has always been an accepted and acceptable interface between clinical care and research. It would be detrimental to the health of our community if the balance is shifted such that specific consent is required for these essential components of health care.

Health care professionals are used to dealing with issues of confidentiality with discretion. In view of the many and diverse individual issues, we believe that health samples and records should be seen as part of our community resource for health, rather than as a form of personal property of the individual receiving care or treatment, in all but a limited set of circumstances. Far from increasing privacy protection of genetic information, the Privacy Act must make clear the overriding right of the community to have access, through its medical and scientific practitioners, to data that is necessary for audit and research into health care. The ALRC/AHEC should consider the possible implications of an “opt-out” system where individuals who do not feel at ease with an altruistic approach to availability of health information have the right to withdraw from making their data available.

Chapter 5 (and Chapters 10, 11 and 12): Anti-Discrimination Legislation. The Academy believes that strong and enforceable anti-discrimination legislation is the key to appropriate protection of persons who may be at risk of discrimination for reasons of health or illness, whether genetic or acquired. Encouraging excessive secrecy around genetic (or any medical) data because of unrealistic concerns about privacy is less appropriate than ensuring legally that those at risk are not discriminated against. This is particularly true with respect to employment and insurance (Chapters 10 and 11).

Insurance. On insurance (Chapter 11), the Academy notes that the Investment and Financial Services Association has recently issued revised recommendations about dealing with genetic tests, and has also recommended specific guidelines for gene tests for haemochromatosis. These address many of the concerns expressed by the Human Genetics Society of Australasia and patient support groups, in that they make clear that any loading must be based on actuarial data, that individuals will be advised of their rights, and that alternative policies will be developed to meet special needs. In view of this, the Academy suggests that insurance is a good example of an area that will be best addressed by a Standing Advisory Body with regulatory powers, rather than legislation.

Chapters 6, 7, 8 and 9:
The comments above on Chapter 2 are relevant to these chapters. The way in which Chapter 7 discusses the issue of the use of pathology samples (in particular 7-3) causes great concern to the Academy, as we believe it to be based on a misconception of the role of the pathologist. A pathologist (studying the underlying diagnosis and understanding of the causes of human diseases) is simultaneously a practitioner owing duty of care to a patient, and a researcher. While issues of consent are important in a few cases, in many situations consent is not relevant once a person has accepted medical diagnosis and treatment. If someone has cystic fibrosis, or tuberculosis, or colon cancer, privacy and consent take second place to the need to provide effective health care for the individual, the family and the community. There is no dividing line between clinical care and research and the clinician/scientist has a duty to his/her patient to conduct every possible test to find the cause and best treatment for a disease. This is most clear for diseases such as cancer, where attempts to restrict the use of tissue samples archived as sections or small blocks would interfere with research in a major way. The Academy also believes it is unethical to argue for anonymous treatment of pathology samples, since this restricts the ability of health care workers to provide information to family members in the event that gene data predisposing to health or disease is uncovered. We reiterate that it is ethically imperative to make best use of archived human tissue samples (such as sections of cancers on slides) by facilitating research to improve health care and treatment of disease. Research using these samples should be encouraged and not inhibited, in the interests of the community.

Ethics Committees. In general, the Academy believes that Human Research Ethics Committees carry out their role vigorously and intelligently. They are the key element in protecting individuals from any abuse in the course of research. However, there are many HRECs that are facing new challenges in areas such as genetics. Each HREC has the responsibility to consider each proposal on its merits, but we recommend that there should be a system in place where HRECs can ask for advice from a central body. If a Standing Advisory Group on Human Genetics is established, either it, or the Australian Health Ethics Committee, or the two together, could fill this role.

Professional Training in Ethics. The Academy recommends that all medical, science and allied health training programs at undergraduate and post-graduate level should include professional training in ethics. Universities should be required to state how each course offers training in ethics, and how this is examined.

Commercial Involvement in Research. It might be imagined from the document that the issues of commercial involvement in research differ in the case of genetics and genomics from the issues for any other form of commercial research involving medical samples. Although some studies at present involve families rather than individuals, this has always been the case in some fields (such as cardiology), and is not the case today for many projects using the techniques of functional genomics (such as Alzheimer disease). Indeed, the use of genetic and genomic technology reduces the number of individuals that need to be studied and should lead to more efficient drug development. No significant political or academic group argues against the underlying principle of commercial involvement in research, because ending this involvement would require a corresponding injection of several hundred million dollars per annum into biomedical research by the Australian government. It is necessary to rely on a combination of the use of HRECs, patent law and common law to provide comprehensive protection to the community against any abuse of research by commercial interests.

However, we note that there is no requirement in Australia that commercially funded research involving humans, or human samples, must go before a properly constituted HREC, particularly if it does not involve recruitment of hospital patients. We would argue that all research with human subjects, not only that conducted with NHMRC support or in public hospitals and universities, should be legally required to go before an HREC for approval. All applications to HRECs should be required to include details of any commercial support obtained or envisaged. There should be a more comprehensive national reporting system for applications that come before HRECs and their outcomes. These changes would allay some concerns over pressures on the system due to commercial arrangements.

© 2017 Australian Academy of Science