Proposed functions

High-level advice on human genetics

5.79 Many submissions emphasised the need for governments and other policy-makers to receive cutting-edge advice about a range of complex issues raised by the rapidly developing field of human genetics, which integrates a broad range of expertise, experiences and perspectives.

5.80 The University of Tasmania’s Centre for Law and Genetics wrote that:

It is important that the final report recognises that the current rate of development of human genetics is accelerating and following new pathways. Just as an individual’s genetic profile produces a future diary (see Lori Andrews’ Future Perfect) future developments should be monitored and reasoned advice given. The proposed HGCA should develop the capacity to preview, monitor and respond to emerging issues in a strategic and planned fashion rather than react to issues. The research phase of human genetics will develop into the application phase. New issues will emerge and the proposed HGCA will have a pivotal responsibility for presenting advice that is coherent, comprehensive and reasoned.

5.81 A number of submissions and consultations pointed to the tension in proposals in DP 66, which primarily spoke of the body having an advisory role, but also appeared to suggest that the body might have some direct, regulatory functions^[74]—such as ‘approving specific genetic tests for use by the insurance industry for risk-rating purposes, or by employers for compelling occupational health and safety reasons’.^[75]

5.82 The Inquiry agrees that this ambiguity needs clarification, and the Recommendations in this chapter have been refined to focus on the establishment of the HGCA as advisory body. To the extent that monitoring or enforcement is required in areas in which the HGCA provides advice, this should be left to other bodies, such as the TGA and the Human Rights and Equal Opportunity Commission, and to the courts and other complaints-handling mechanisms. Similarly, compliance might be achieved by the particular use that other bodies make of the HGCA’s advice or recommendations.^[76]

5.83 In this respect, the standing body envisaged by the Inquiry would have a role along the lines of the UK’s HGC and the Ontario Advisory Committee on Genetics. Accordingly, the Inquiry recommends that the role of the HGCA should be to provide:

• on-going, high-level, technical and strategic advice to Australian governments about current and emerging issues in human genetics;
• similar high-level advice on the ethical, legal and social implications arising from these developments, including consideration of any impact on human rights, and analysis of cost-benefit issues;
• national leadership in managing the process of change, including engagement of the public on these issues;
• relevant expertise and a consultative mechanism for the development of policy statements and national guidelines in this area, where appropriate in association with other governmental agencies or the relevant industries and organisations;
• assistance with the development and coordination of community, school, university and professional education about human genetics;
• advice and a consultative mechanism to assist the relevant bodies in identifying strategic priorities for research in human genetics; and
• a focus for the coordination and integration of various national—and perhaps regional and international—programs and initiatives.

5.84 The NHMRC has a range of statutory functions under the NHMRC Act, including funding health and medical research, issuing advice and guidelines on health issues, and developing ethical guidelines in regard to medical research and other ethical issues related to health. Part D of this Report notes the particular role of AHEC, as one of the NHMRC’s Principal Committees, in supporting and overseeing human research ethics committees and in issuing guidelines that are binding on those committees and on researchers and institutions that receive NHMRC funding. The Inquiry wishes to make clear that there is no intention to develop a role for the HGCA which might conflict with the statutory functions of the NHMRC and its Principal Committees. As emphasised below, there will be a need for the HGCA to be alert to these matters and to consult widely as it develops its work plans.

Developing testing policy, especially in sensitive areas

5.85 Not all genetic tests raise the same ethical, privacy and discrimination concerns. Some genetic tests for diagnostic purposes may simply be more accurate and less invasive alternatives to discovering information that could be obtained by other means. For example, a buccal swab submitted for DNA analysis would be preferable in most respects to a liver biopsy performed to determine whether a person has haemochromatosis, or a ‘sweat test’ conducted on an infant to diagnose whether the child has cystic fibrosis. Many other current and future genetic tests, however, will fall into a ‘grey zone’, without clear indications whether or not they should be characterised as ‘diagnostic’ rather than ‘predictive’ or ‘research-related’ procedures.^[77]

5.86 Chapter 11 of this Report deals with issues relating to the regulation of access to genetic testing. Some of the Inquiry’s recommendations in this area turn on the existence of an independent, expert advisory body that can provide leadership in, among other things, identifying genetic tests that have particular concerns or sensitivities attached to them, and thus may require special treatment.

5.87 The existing framework for regulating therapeutic goods operated by the TGA provides an example of regulation that is carefully tailored to the sensitivities raised by particular products. Among other things, the TGA operates a classification system for medical devices by which the level of regulatory control is proportional to the degree of risk associated with the product. The system takes into account the benefits offered by use of the device, its intended purpose, and the effectiveness of the risk management techniques applied during design, manufacture and use.^[78] By and large, this rating is done on technical, and increasingly internationally harmonised, ‘rules based’ standards. However, it is still open to the TGA to increase the risk classification for public policy reasons. For example, the Inquiry understands that silicon gel breast implants should be in ‘Class 2’ according to the technical rules, but lingering concerns about the safety experience with breast implants in Australia has led to the imposition of ‘Class 3’ status, with a higher level of scrutiny by the regulator.^[79]

5.88 Similarly, following advice from the Inter-Governmental Committee on AIDS, Hepatitis and Related Diseases, medical practitioners and dentists do not have access to new ‘rapid tests’ for HIV/AIDS or Hepatitis C because of the view that, in general, they do not have the expertise to read the test results accurately or to provide the proper counselling. Instead, test kits for HIV/AIDS and Hepatitis C are supplied only to laboratories that participate in the National Reference Laboratory’s Quality Assurance program for those tests.

5.89 It is possible that some genetic tests, including those provided directly to the public, could be seen to require special rules and processes.^[80] The TGA has its own expert committees and advisory panels, but discussions with senior officials has indicated that the TGA would welcome the recommendations of an independent, national advisory body on human genetics to assist it with setting the policy parameters for regulation in this area.

5.90 Official reports in the United States^[81] and Canada^[82] have recognised that the approval process for genetic testing technology should go beyond a simple technical assessment of the product and include a second compulsory stage, as such tests are ‘likely to raise many clinical, ethical or legal issues [that] would require a rigorous and formal evaluation by a multidisciplinary team’.^[83] The Canadian report also notes that special concerns are raised by the possible availability in future of kit and home-based testing through direct-to-consumer marketing and over the Internet. The report suggests that these issues would be appropriate for policy advice, education and oversight by a national coordinating body, such as a human genetics commission.^[84]

5.91 The HGSA stated that an HGCA could play an important role in

identifying genetic tests that have particular concerns or sensitivities attached to them, and may thus require special treatment. In carrying out this responsibility, HGCA would work closely with existing regulatory bodies [such as the TGA and NPAAC] to develop recommendations for clinical and laboratory practice, including mechanisms such as restricted clinical request pathways, to ensure that genetic tests are delivered with appropriate counselling, consent and attention to privacy.^[85]

5.92 The Genetic Support Network of Victoria submitted that an HGCA would be well-placed to fulfil this role if it incorporated the views and experiences of genetic support organisations, through membership and consultation:

We see a role for genetic support organisations in assisting to identify genetic tests that have particular concerns or sensitivities attached to them, as some concerns and sensitivities may not be evident to people who have not had a particular test themselves. While professionals may well identify the various clinical, scientific, economic and psychological issues which could arise, there may be other personal and social issues which are more complex when placed in the combined context of family, health service provision, insurance options, education and other factors.^[86]

5.93 The Centre for Law and Genetics also called for the HGCA to assess genetics tests with specific reference to cost benefit analysis, human rights impact, and strategic priorities in the delivery of genetic services.^[87]The South Australian Department of Human Services also noted that the strategic decision to utilise certain genetic tests should be well informed and ‘not influenced by commercial or other interests’.^[88]

5.94 Senator Natasha Stott Despoja submitted that the HGCA should subject tests used in population genetic screening programs to particular scrutiny, writing that:

Tests used in population genetic screening programs must meet an agreed standard for reliability, sensitivity and utility. All genetic screening tests should comply with strict standards set by one peak body such as the proposed HGCA. Compromise has the potential to undermine the entire legislative package. The potential costs to the health care system, the potential harm caused by diagnosis where necessary counselling is not available, the potential for wrong test results, and the potential for test results to be used negatively for insurance and employment purposes make regulation governing the reliability, sensitivity and use of population genetic screening programs an absolute necessity.^[89]

Advice in other key areas

5.95 The Inquiry sees a key role for the HGCA in providing expert policy advice to governments, industry, service providers and others about the sensible uses of genetic information and testing technology across a range of subject areas, such as insurance and employment, both from the technical standpoint as well as in consideration of the ethical, legal and social implications.

Insurance

5.96 As discussed in Chapter 27 of this Report, in the United Kingdom, the Genetics and Insurance Committee (GAIC) has the role of determining applications for the approval of specific genetic tests for use by the insurance industry, having regard to the scientific reliability and actuarial relevance of the test. GAIC comprises representatives from the insurance industry, actuaries, scientific community, and general community. Under the British insurance industry’s voluntary code, insurers will only take account of genetic tests that have been authorised for this purpose by GAIC.^[90] Such authorisation has been granted for a number of genetic tests.^[91]

5.97 No such body currently exists in Australia, although many submissions stressed the need for this sort of function to be performed here, including those from the Australian Academy of Science; the HGSA; the Australian Medical Association; the Genetic Support Network of Victoria; NSW Legal Aid; and Senator Stott Despoja.^[92]

5.98 The Centre for Law and Genetics submitted that:

The prospects for ensuring that accurate and reliable information is uniformly available to agents and brokers would be greatly enhanced if this responsibility was shared between the insurance industry and government, through the work of an expert committee established for the specific purpose of evaluating the scientific and actuarial relevance of genetic tests proposed for use by the insurance industry in setting insurance premiums, along the lines of the Genetics and Insurance Committee (GAIC) established in the United Kingdom.^[93]

5.99 The Australian Huntington’s Disease Association (NSW) agreed that there is a need for an ‘independent advisory committee appropriate for use/interpretation of genetic tests and information for insurance purposes’.^[94]

5.100 The Anglican Diocese Sydney, submitted that it was

concerned about possible discrimination in use of genetic information, particularly in view of the current understanding of the actuarial significance of some information. We believe that those tests to be used for insurance and the way they are used should be approved by scientists and not the industry, ie by the proposed HGCA.^[95]

5.101 Privacy NSW also suggested that the advisory committee should review the use of genetic test and family history information by insurance companies in light of advances in genetics,^[96]and recommended that:

the use and disclosure of genetic information should be prohibited in general and health insurance until specific tests are approved by an independent review body, such as the proposed Genetics Advisory Committee.^[97]

5.102 As noted above, a number of submissions emphasised that the HGCA should not be both an advisory body and a regulator. In this particular context, the Queensland Government wrote that:

The need to develop detailed policy advice regarding which genetic tests should be approved for use by the insurance industry for risk-rating purposes, or by employers for compelling occupational health and safety reasons is acknowledged. However, the proposal that the HGCA have responsibility for approving such tests appears to be inconsistent with its proposed advisory role. It may be more appropriate for the proposed HGCA to provide advice to policy-makers.^[98]

5.103 The peak association representing life insurers and other financial advisers in Australia, the Investment and Financial Services Association (IFSA), accepted the value of an independent, expert body providing advice about the intelligent use of genetic testing and information in the insurance industry, but rejected the need for the HGCA to play a formal regulatory role. Responding to the reference in DP 66 to the HGCA playing a ‘monitoring role’ with respect to the industry, IFSA submitted that the HGCA instead should be

undertaking a ‘research’ rather than a ‘monitoring’ role to keep abreast of developments in the industry with respect to the use of genetic information; and a role in reviewing and, where appropriate, disallowing existing or approving new genetic tests on appropriate grounds. It is acknowledged that the insurance industry would only seek disclosure of the results of relevant and appropriately approved genetic tests.^[99]

5.104 In Chapter 27 the Inquiry supports the view that the HGCA should assess the use of genetic tests in underwriting and that it should make recommendations regarding their use for that purpose. Rather than ‘approving’ or ‘disapproving’ tests, as DP 66 had suggested, the Inquiry believes that the HGCA’s recommendations can be given effect through industry codes of practice.

Employment

5.105 A number of submissions drew together the need for expert advice in the area of insurance with emerging concerns about the potential for the use and misuse of genetic testing by employers. For example, the Centre for Law and Genetics argued that:

the legitimacy of requiring genetic testing in a given situation should itself be the subject of independent review to ensure that the criteria for justifying genetic have been established. Further, it is essential that the testing undertaken is reliable and accurate and that an objective, scientifically well founded assessment is made of that test result. Responsibility for regulation and oversight of the use of genetic testing should be vested in an independent body with multi-disciplinary expertise specifically set up for this purpose.^[100]

5.106 The Haemophilia Foundation Victoria wrote that it was

particularly pleased that the proposed HGCA would have responsibility for approving specific genetic tests that may be used by the insurance industry and employers. This is an area of particular concern to the Foundation and as such the Foundation is delighted that such a body will oversee the appropriate and responsible use of this information in insurance and employment settings.^[101]

5.107 The Anti-Discrimination Board of NSW submitted that:

In our view the HGCA’s role in relation to policy statements and national guidelines must include development of a national testing policy in broader terms than outlined in proposal 3-3. Such a policy should include employment related testing, pre and post test discussions to enable informed consent to testing and issues in relation to insurance companies access to or use of genetic tests. In addition to testing issues in insurance and employment, we strongly agree that the HGCA should have a policy development role in critical areas such as insurance and employment generally.^[102]

5.108 In Parts G and H of this Report, the Inquiry considers in much greater detail the use of genetic testing and information in the contexts of insurance and employment, and a number of specific recommendations for reform are built around the establishment of an HGCA which can provide this kind of technical and policy advice.

Public and professional education

5.109 There is little doubt that, for the benefit of the entire community, the revolutionary progress in genetic science needs to be matched with a major effort aimed at significantly raising public and professional awareness and understanding of these advances, and their ramifications for policy and practice.

5.110 There has been some criticism of the Human Genome Project for spending billions of dollars on scientific research, and some considerable amount on bioethics,^[103] but very little on public education. The Director of Roche Genetics, Klaus Lindpainter, has argued that public education

is as much a key challenge to researchers as linking genes to function. The lack of public understanding will slow the introduction of breakthroughs on the scientific side and slow the drive to put data and patient protection mechanisms in place as genomic research moves from the lab to the clinic. All of this will rely on all of us engaging in a dialogue with the public.^[104]

5.111 The Ontario Advisory Committee on New Predictive Genetic Technologies recommended developing and promoting a genetics educational program for everyone in that Province, including health professionals and policy makers, to meet public and professional needs. The Committee also recommended developing a specific education program around each new predictive genetic test approved as an ‘insured service.’^[105]

Until recently, much of the practice of genetics involved diagnosing rare inherited disorders, estimating risk for family members, and providing prenatal diagnosis. There was little need for most health care providers to have any more than a rudimentary knowledge of genetics. Now, there is an urgent need for the Ministries of Education and of Colleges and Universities to review the curricula of secondary and post-secondary schools and incorporate core genetic issues.^[106]

5.112 Many submissions to the Inquiry also stressed the need for a concerted effort at greater public and professional education in this area, and a number linked this to the establishment of an HGCA. For example, the Genetics Advisory Committee of the Victorian Department of Human Services wrote that a standing advisory commission should lead ‘a national approach to better information and training for health professionals as well as information to the public’.^[107] Women’s Health Victoria submitted that:

There is definitely a need to educate health professionals better about practical and ethical principles involved in genetic testing and information. This could be one of the functions of the standing body on human genetic information.^[108]

5.113 The Department of Health and Human Services Tasmania also wrote to

note and support the proposals concerning public and professional education on human genetics. We expect that this education will result in increased requirements for services such as genetic testing and counselling. We have seen this in a small way with local education initiatives for professionals in the area of cancer genetics. The informed professionals are more likely to request counselling and testing services for their patients.^[109]

5.114 The Office of the Federal Privacy Commissioner wrote that:

To achieve the necessary social acceptance of genetic and technological advances, it will be essential for our institutions to operate within the following ‘learning framework’, which should encourage them to:

· keep abreast of advances in genetic knowledge, learning from their own experience and the experience of the scientific and medical applications of advances in genetic knowledge;

· in particular, ensure that health professionals and medical researchers learn from the community support groups representing those with genetic disorders in developing policies and strategies;

· incorporate that knowledge and experience in their decision-making processes;

· ensure that their decisions are transparent and accountable;

· provide the community with best possible means of understanding developments in genetic knowledge and of participating fully in the decisions which may dramatically affect their lives;

· be receptive and responsive to community perceptions, concerns and to the promotion of their legitimate interests; and

· regard as paramount an ethical approach to all their activities and outcomes.^[110]

5.115 The Androgen Insensitivity Syndrome Support Group Australia wrote that the HGCA should ‘also be responsible for considering potential avenues of education of the wider community about the uses of genetic information’.^[111] The Neurofibromatosis Association of Australia submitted that:

We see the role of such a body as not just participating in the regulatory framework, but also as being a focus for public education on issues related to human genetics. We see the creation of such a body as being an important outcome of this current inquiry.^[112]

5.116 The Association of Genetic Support of Australasia wrote that it was

pleased to note the importance placed in this proposal and we would like to emphasise how important it is that the HGCA liaise with the public, especially community support groups and umbrella organizations on managing the process of change and in developing policies. This will ensure that directives e.g. policies education etc. match what is needed in practice at the grass roots level. We agree with the development of community, school, university and professional education about human genetics and agree the focus must be first on a national level which in turn is linked internationally.^[113]

5.117 Although the HGCA will be in a good position to promote, advise and assist educational initiatives, this will be more at the ‘big picture’ level: it is not anticipated that this body necessarily will be a direct provider of education. As the submissions noted, there is already substantial activity in genetics education in Australia at many levels. This will be another area of shared responsibility in which the HGCA will need to work closely with other groups and institutions, such as departments of health and education; the HGSA; state and territory school curriculum authorities; university medical schools; the Royal Colleges; the Divisions of General Practice, and so on. Professional education on genetics is dealt with in more detail in Chapter 23.

Strategic priorities for research

5.118 One of the terms of reference for the UK HGC is ‘to advise on strategic priorities for research’. The Centre for Law and Genetics noted that:

The NHMRC is the appropriate body for settings strategic projects for health and medical research. The Australian Research Council does have a strategic function in ELSI research but it may be advisable to include [in] the terms of reference of the HGCA something along the lines of: to advise, after consultation with relevant research funding organisations, on strategic priorities for research in human genetics.^[114]

5.119 The Inquiry agrees with both aspects of the Centre’s submission. It is certainly not envisaged that the HGCA would seek directly to set research priorities—this is quintessentially the role of the NHMRC and Australian Research Council (ARC) (and, of course, the Government, where it provides funds to support research in specified areas of national importance, as it does from time to time).

5.120 However, in the course of its work as a body dedicated to the study of a wide range of issues surrounding human genetics, the HGCA no doubt will be in an excellent position to assess emerging issues in human genetics and observe the state of existing research in Australia in these areas—including the gaps. The Inquiry believes that the transmission of this experience and awareness to the NHMRC and the ARC would be valuable in assisting those bodies to make better informed decisions about research needs and priorities in human genetics.

Own motion inquiries and ministerial references

5.121 As a standing expert body, the HGCA should be available as a national resource to be utilised for inquiry into, or the provision of expert advice on, matters relating to human genetics—whether on its own motion or upon the formal reference of the responsible minister or ministers. In a fast-moving area of scientific development there will no doubt be matters arising over time which will require sensible, expert commentary and advice, both to inform the community and to promote sound public policy-making.

5.122 For example, this Report does not deal with matters relating to ‘behavioural genetics’—an undeveloped and unproven area of research, which suggests that certain behavioural traits, such as sexual orientation, political orientation, alcohol and drug addiction, or propensity to violence, are genetically determined to a significant degree. Of course, any labelling of ‘abnormal’ traits would have to proceed from a clear demarcation of what is regarded as the ‘normal’ range of human behaviour. The Nuffield Council on Bioethics in the United Kingdom aptly has described this as

a complicated area of research in genetics, often controversial, occasionally explosive and with the capacity to ignite dangerous passions.^[115]

5.123 This form of genetic determinism (see Chapter 3) does not presently figure in legal or social policy-making, and the Inquiry was not presented with any related complaints or practical problems. However, it is conceivable that in the future employers might seek to discriminate based upon notions of behavioural genetics (‘we can’t hire people with a propensity towards violence in our industry’), or an accused person might seek to deflect or diminish criminal responsibility because of genetic factors (‘my genes made me do it’), and so on (see Chapter 44). In that event, an independent, authoritative, national body like the HGCA would be perfectly placed to lead community education and debate on the issue.

Monitoring the implementation of this Report

5.124 Although the HGCA will develop its own initiatives and priorities over time, the Inquiry believes that it will be a useful starting point for the HGCA to undertake an active program of monitoring the implementation of the broad strategies and specific recommendations made in this Report. In order to assist this process, the Inquiry has included an ‘Implementation Schedule’ in this Report, indicating the body or bodies responsible for implementing each recommendation.