The Human Genome Organisation's (HUGO’s) Seventh International Human Genome Meeting,
HGM2002, Shanghai, 14 - 17 April 2002.
The Australian joint inquiry into
the Protection of Human Genetic Information
Professor David Weisbrot
President, Australian Law Reform Commission
ABSTRACT
The Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee are currently engaged in an inquiry into the Protection of Human Genetic Information. In particular, the Attorney-General and the Minister for Health and Ageing have asked us to focus, in relation to human genetic information and tissue samples, on how best to ensure world's best practice in relation to:
· privacy protection;
· protection against unlawful discrimination; and
· the maintenance of high ethical standards in medical research and clinical practice.
While initial concerns and controversies mainly have related to aspects of medical research (eg, consent; re-use of samples) and access to private insurance coverage, relevant issues arise in a wide variety of contexts, including: employment; medical practice; tissue banks and genetic databases; health administration; superannuation; access to government services (eg schools, nursing homes); law enforcement; and use by government authorities (eg for immigration purposes) or other bodies (eg by sports associations).
Under our federal system, it is also the case that laws and practices may vary across states and territories. For example, neonatal genetic testing is standard, but storage and retention policies for the resulting 'Guthrie cards' differ markedly. Similarly, some states have developed highly-linked health information systems (eg, incorporating hospitals, doctors' offices and public records) while others discourage such linkages due to concerns about privacy.
The challenge for Australia is to develop policies, standards and practices that promote the intelligent use of genetic information, while providing a level of security with which the community feels comfortable. The inquiry is presently reviewing the adequacy of existing laws and regulatory mechanisms, but recognises that it will be even more important to develop a broad mix of strategies, such as community and professional education, and the development of official standards and industry codes that reflect emerging international best practice in this area.
HUGO HGM 2002
The Australian joint inquiry into
the Protection of Human Genetic Information
Professor David Weisbrot
President, Australian Law Reform Commission
Introduction
In February 2001, the Commonwealth Attorney-General and the Minister for Health and Aged Care established an inquiry into the protection of human genetic information, to be conducted jointly by the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC).[1] The inquiry is now due to report its findings and recommendations by 31 March 2003.
The Government's decision to opt for a joint inquiry reflects the wide array of legal and ethical concerns and contentions surrounding this new field, and mirrors the Human Genome Project's establishment of working groups focusing on the various ethical, legal and social implications (ELSI) of the scientific advances.
The ALRC has long experience in dealing with legal issues that involve important ethical and social dimensions - including work that led to the adoption of Human Tissue Acts in all Australian jurisdictions - and well-tested processes for engaging in effective community consultation.[2] AHEC is a principal committee of the National Health and Medical Research Council (NHMRC). AHEC advises the NHMRC on ethical issues broadly relating to health and medical research, and is also specifically responsible for developing guidelines for the conduct of medical research involving humans, and for supervising the operations of the more than 200 Human Research Ethics Committees (HRECs).[3]
Background to the joint inquiry
Concerns about the use of genetic information are not new. The extent to which genetic information should remain private, and the ability to treat people differently on the basis of their genetic information, are both matters that have been debated in the United States, Canada and across Europe. Thus, this inquiry is in the fortunate position of proceeding from a foundation of discussion and research being generated within Australia as well as overseas.[4]
In common with many OECD countries, Australia has a policy, expressed in its Innovation Report,[5] placing great reliance for its economic future on genetic technology, particularly human genetic technology. Significant steps have been taken to implement this policy:
· The National Statement on Ethical Conduct in Research Involving Humans (hereafter the National Statement)[6] has set down a comprehensive national ethical regulatory framework for the conduct of research in general and genetic research in particular.[7]
· Biotechnology Australia is a whole of government initiative[8] to coordinate efforts to develop biotechnology for the benefit of the Australian community.[9]
· The Ralph Report on taxation reform has recommended reforms to income tax arrangements to ensure that the Australian taxation regime for biotechnology companies is consistent with other OECD nations, as a means of encouraging investment in Australian biotechnology.[10]
· A major review of health and medical research in Australia has been undertaken. The Wills Report[11] refers particularly to the need to take advantage of advances in biotechnology to improve the health of the Australian population, to build the economy and to create valuable jobs.[12] It recognises that this window of opportunity would close given the pace of change unless Australia acts promptly.
· The federal Government's announcement on 29 January 2002 that, as part of a shift towards setting national priority areas for research, one-third (or approximately $170 million) of the Australian Research Council's funding grants for 2003 would be reserved for four designated key areas of scientific research, one of which is genome/phenome research.[13]
· The decision made in April 2002 by the Council of Australian Governments (COAG - which brings together the heads of the 9 federal, state and territory governments), despite strong objections from many religious leaders, to authorise continued embryonic stem cell research on a national basis - through the enactment of uniform federal, state and territory laws - under specified conditions.[14]
These initiatives recognise that the preconditions to economic growth in the genetic technology sector include access to research tools (including human biological material), security of investment and effective and appropriate regulation.
A central tenet of Biotechnology Australia is to ensure that 'consistent with safeguarding human health and ensuring environment protection, that Australia capture the benefits of biotechnology for the Australian community, industry and environment'.[15] The previous federal Minister for Health and Aged Care, the Hon Dr Michael Wooldridge MP, has emphasised 'the driving imperative of identifying and managing any risks associated with the technology before all other matters, only then can we be truly confident about reaping the broader benefits'.[16] The establishment of the genetic technology industry must be accompanied by appropriate legal and ethical regulatory regimes to protect the community and the research participant.[17]
Factors leading to the establishment of the inquiry
A number of inquiries and events over the past decade have raised public consciousness about the breakthroughs in genetic science and technology, as well as the emerging ethical, legal and social issues attaching to those developments.
In Australia, privacy issues relating to genetic technology were identified in the 1992 report of the House of Representatives Standing Committee on Industry, Science and Technology entitled Genetic Manipulation: The Threat or the Glory?[18] This led to the federal Privacy Commissioner's release of an information paper in 1996, entitled The Privacy Implications of Genetic Testing.[19] The Privacy Commissioner recommended a coherent and consultative approach to developing policy on privacy questions raised by genetic testing.
In March 1998, Australian Democrats Senator Natasha Stott Despoja introduced the Genetic Privacy and Non-discrimination Bill into federal Parliament. This Bill was based on the Model Genetic Privacy Act (which has influenced genetic privacy laws introduced in some American states),[20] and the US Genetic Confidentiality and Non-discrimination Act 1997.[21]
The primary objectives of the Stott Despoja Bill were to: establish an enforceable right to privacy of genetic information of an individual; define the circumstances in which genetic information and DNA samples may be collected, stored, analysed, and disclosed; prohibit discrimination based on genetic information;[22] and establish mechanisms to enforce the rights and responsibilities established under the Bill.
The Bill was considered by the Senate Legal and Constitutional Affairs Committee, which received more than 50 submissions from the public. In its March 1999 report on the Bill, the Committee concluded that, as genetic technology is still in an early stage of development, it would be premature to legislate on genetic privacy and non-discrimination, and that further examination of the appropriate regulatory structures was needed.[23] The Committee also considered that creating specific legislation for genetic privacy and discrimination would cut across a number of regulatory systems already in place, or in the process of being established; and suggested that it would be more appropriate to amend existing privacy and discrimination legislation where necessary, to ensure that issues raised by genetic technology are adequately covered under that legislation.[24]
Separate studies were conducted in Australia in 1999 by genetic counsellor Dr Kristine Barlow-Stewart and postgraduate law student David Keays, based on anonymous responses received from survey forms distributed by clinical geneticists and genetic support networks in Australia and New Zealand.[25] Genetic discrimination, defined in these studies as less favourable or adverse treatment because of a positive genetic test result, was reported with respect to genetic tests for a wide range of medical conditions.[26]
Most of the allegations of genetic discrimination touched on insurance, with 45 cases reported in respect of life insurance, income protection insurance, trauma insurance, superannuation, or health insurance.[27] The actions complained of involved loading premiums, denial of requested increases to pre-existing insurance coverage, and blanket refusal to provide insurance.[28] There also were five reported cases of alleged genetic discrimination in employment or application for employment,[29] as well as two cases in which individuals reported that they had been unfairly denied access to health services because of their genetic status.[30]
The studies suggested that in many of these cases the discriminatory decision or action was inappropriate - that is, the action was based on misinformation or a misunderstanding of genetic test information and the nature of genetic disorders. The studies received widespread media publicity upon publication in mid-2000, and were a significant factor in the initiation of the joint inquiry.
In August 1999, the Investment and Financial Services Association (IFSA), whose members account for 98% of the life insurance industry in Australia,[31] lodged applications with the Australian Competition and Consumer Commission (ACCC) in relation to its draft policy on genetic testing. The ACCC was asked to grant authorisation under national competition laws[32] for IFSA's draft policy on genetic testing.
The critical aspect of IFSA's draft policy (contained in clauses 2 and 4) was that member insurers could ask individuals to disclose existing genetic tests for the purpose of risk assessment, but that member insurers could not initiate any genetic test on applicants for insurance (directly, or indirectly - such as through the offer of lower than standard premium rates for individuals with negative test results).
The ACCC's Draft Determination, issued 14 June 2000, proposed not to grant authorisation for such arrangements, on the basis that:
the provisions of the IFSA draft policy were not likely to result in a public benefit, and that significant anti-competitive detriment would arise from a collective agreement to prevent the offer of lower than standard premiums based on genetic test results.[33]
In other words, the ACCC wanted insurance companies to have increased opportunities to discriminate in favour of persons who could show a 'clean' genetic bill of health by offering them discounts on premiums and other favourable terms.
However, after further consideration, the ACCC decided in November 2000 to grant IFSA a two-year authorisation, noting 'the complex issues involved' and deciding to provide a 'breathing space' during which the issues surrounding genetic testing could be debated and government policy developed. A major factor in the ACCC's decision was the government's announcement of the joint inquiry:
The ACCC considers that there are complex issues involved in this matter. The ACCC therefore welcomes the proposed government inquiry into human genetic information privacy and discrimination issues. There is a need for some consideration of all the issues by government. An important part of the debate would also include the issue of whether or not industry self-regulation is appropriate in respect of the issues involved.[34]
Finally, the Human Genome Project (HGP) and Celera Genomics jointly announced the first near-complete draft of the entire DNA sequence of the human genome in June 2000, and publication of material by Public Sequencing Consortium of the HGP followed in US and UK science journals in February 2001. The first draft of the human genome sequence is a major starting point in the research effort to apply this knowledge into mainstream medical practice. It will provide a significant platform for other applied sub-branches of human genetic research and technology, including such topics as gene identification, genetic variation, gene expression monitoring, microarray technology, bio-informatics, systems biology, protein structure and proteomics.
Social reactions to rapid scientific change
This research effort will continue apace in both the public and private sectors. The principal research tool is human biological material, in the forms of human tissue and the human genetic information derived from examination of that tissue. It is a now a rare day when the news media fails to contain some coverage of an exciting development or a worrying controversy (or, often, both) arising out of genetic research and technology.
The pace of scientific advancement in biotechnology and in other related fields creates a high level of social ambivalence about the potential benefits and detriments of change. On the one hand, there is very strong public support for breakthroughs promising better medical diagnosis and treatments for such common and serious diseases as diabetes, Alzheimer's, Huntington's and Parkinson's, and for assisting with law enforcement (including identification of missing persons). On the other, there is certainly also some general social anxiety about uncontrolled or 'mad science', the spectre of eugenics, threats of biological warfare, reports of xenotransplantation and human cloning, and fears about the increased potential for loss of privacy and genetic discrimination.
Recent public opinion surveys commissioned by the UK Human Genetics Commission[35] and the European Community[36] clearly demonstrate this tension, with generally strong support for the controlled use of genetic testing and information for diagnostic purposes, for scientific research leading to advances in treatment, cure and prevention, as well as for law enforcement applications. However, the surveys also register serious concern about such matters as reproductive cloning and the creation of 'designer babies'.[37] A large proportion of those surveyed felt they were poorly informed about developments in biotechnology - but most expressed a willingness to learn.
It is an important lesson for Australians that, because of recent crises in Europe over foot and mouth disease, mad cow disease, Creutzfeldt-Jakob Disease (CJD), genetically modified (GM) foods, human cloning, nuclear fallout from Chernobyl, - and perceived inadequate government and corporate responses to these events - Europeans manifest a high (and growing) degree of scepticism about the ability of public authorities to regulate biotechnology adequately in the public interest.[38]
In 2000, the University of Western Australia's Survey Centre conducted a telephone survey of 1,000 people in that State,[39] 75% of whom reported that they were aware that genetic research was being conducted using human DNA. Eighty-four per cent stated that such research would benefit the community generally, and 70% thought it would benefit themselves or their families, especially by way of elimination of genetically linked disease (50%), cures for general diseases and better quality of life (26%) and fewer children being born with birth defects (7%). Forty per cent of respondents expressed concerns about associated risks and dangers with genetic research, especially in relation to 'inappropriate use of information' and the fear of eugenics.
Biotechnology Australia also has commissioned major quantitative and qualitative studies in this area, the latest conducted by the research firm Millward Brown, in April-May 2001.[40] This survey, which updated a similar study carried out in 1999, found that there was:
· Some level of concern expressed about gene technology by 80% of the community, but these concerns were rated much lower than environmental concerns, such as pollution or 'greenhouse gases'.
· An increased awareness of biotechnology issues in Australia (67%), and a general view that genetic engineering would improve our lives over the next 20 years (51%).
· An increased acceptance of some applications, such as modifying crops to make them more pest resistant (37%), testing embryos for predisposition to disease (25%) and using human genes in medicines and vaccines (29%).
· A decreased acceptance of using animal genes in plants (31%), or of modifying human genetic material with animal genes (44%), and an increase in the perceived risk of using human genes in animals to grow organs for transplantation (75%). Particular concern was expressed about cloning, with 58% stating they believed it would make things worse in the next 20 years.
· Significant concern that screening for genes that may cause incurable diseases could lead to discrimination (59%).
Perhaps most concerning is the evident high level of anxiety about the pace of biotechnological change and society's capacity to regulate it effectively (at least in part pushed along by serious concerns about human cloning):
Most respondents felt that biotechnology is changing at such a rapid pace that developments cannot possibly be anticipated and legislated against. In addition, it was generally felt that Australian society and government are powerless compared to the international financial and political power of the large multinational companies driving biotechnological innovations. A key component of concern was the perception that there are no or inadequate controls over the process, motivations and outcomes of the development and application [of] biotechnology and gene technology in Australia. This was particularly a concern for those applications which were seen to raise complex, and disturbing questions about human life.[41]
However, the 2001 survey also found an increased level of trust in Australian government agencies as both a source of factual information and as regulators - in stark contrast to the experience in the UK and the rest of Europe, as related above.
The scope of the joint inquiry
The terms of reference for the joint inquiry specifically ask the ALRC and AHEC to inquire into and report on:
(a) whether, and to what extent, a regulatory framework is required-
(i) to protect the privacy of human genetic samples and information; and
(ii) to provide protection from inappropriate discriminatory use of human genetic samples and information; and
(iii) to reflect the balance of ethical considerations relevant to the collection and uses of human genetic samples and information in Australia; and
(b) any related matter.[42]
This must be accomplished in a manner that has regard to the range of Australian ethical opinion on application of human genetic information, as well as the benefits and potential benefits of the scientific and medical applications of the new technology. The terms of reference also note the 'global dimensions of issues relating to research, regulation and the protection of interests'.
There are a number of potentially related areas that the ALRC and AHEC have determined fall outside the ambit of the present inquiry, including: genetically modified organisms (GMO foods); access to assisted reproductive technology; human cloning, stem cell research and clinical approaches to gene therapy; parental choices associated with prenatal testing; and intellectual property rights for gene patenting. This is certainly not to minimise the importance of these issues, some of which already are under consideration by other bodies (such as AHEC, COAG, federal Parliamentary committees, and the Standing Committee of Attorneys-General) and others, which may deserve a separate inquiry. For example, the ALRC has written to the Attorney-General suggesting that the gene patenting issue is a matter of considerable importance, which should be the subject of a separate review under fresh terms of reference.[43] In his reply letter to the ALRC of 11 January 2002, the Attorney-General agreed that this matter is beyond the scope of the current joint inquiry, and indicated that the government would give consideration to the establishment of a separate inquiry.
Coming to terms with human genetic information
Information about a person's genetic make-up can be derived from:
· diagnosing a genetic disease or disorder by clinical examination;
· studying a person's family medical history; or
· directly testing and analysing that person's DNA (or other biological substances, such as RNA or proteins).
Genetic information can relate to a condition that is:
· clinically apparent - such as when a genetic test is performed to confirm a diagnosis in someone who has signs or symptoms of a particular disorder. In these circumstances, genetic tests are not distinctly different in nature from other forms of clinical diagnostic testing (such as blood tests, MRI or CAT-scans), but may be more accurate and less invasive. For example, it would be preferable to use a genetic test to diagnose cystic fibrosis in an infant rather than by a (less accurate and more painful) sweat test; similarly, a genetic test for haemochromatosis is far less difficult for the patient than a liver biopsy.[44]
· latent - such as when a genetic test is done on someone who is apparently free of a disorder at present, in order to determine the likelihood that he or she will, or may, develop the disorder in the future, or may be a carrier for the disease or disorder. Such tests obviously raise greater ethical and social concerns that the former category, and require considerably more attention given to privacy concerns and to providing pre- and post-test counselling and support services.
Genetic information is not only pertinent to an individual but may tell us something about close blood relatives - including those in succeeding and preceding generations. Thus, genetic information may be said to flow 'from before the cradle to after the grave'. For example, demonstrating that an individual is a carrier for cystic fibrosis means that one of that person's parents is also a carrier. In some cases, genetic information is pertinent to whole communities. For example, Tay-Sachs disease is primarily (but not exclusively) found in persons of European Jewish descent; sickle cell anaemia primarily affects persons of black African descent; and haemochromatosis is very common in persons of northern European descent.
Information generated by DNA testing can be very precise - indicating that a particular mutation (allele) is or is not present. However, this precision often will prove unhelpful when it comes to predicting the future health of an individual. Genetic information tends to be about possibilities rather than certainties, because only a proportion of those people with a particular disease-related mutation or other variant will develop the disorder. For example, the so-called 'breast cancer gene' (mutations known as BRCA1 and BRCA2) is found in about one per cent of the female population and its presence is said to increase the risk of developing breast cancer by a factor of five. However, only 5-10% of breast and ovarian cancers result from the inheritance of alterations in BRCA1, BRCA2 and other familial gene alterations not yet known. Furthermore, estimates of the number of women with the gene alterations who actually develop breast cancer varies widely (from 36-85%), as do estimates for age of on-set.[45]
For much of the past century, the prevailing orthodoxy was that 'nurture' (environment) is far more important than 'nature' (genes) in influencing human development, at least outside of the basic inherited physical traits. The pace and weight of genetic research in recent times, however, appears to have tipped common wisdom in the other direction - perhaps too far in the direction of genetic exceptionalism and determinism (see below).
In fact, the picture is far more complex. A person is not the sum of a column of traits and behaviours determined by individual genes; instead, it is better to think of a person as comprising:
· the product of his or her genes, including the intricate interplay among those genes; and
· the elaborate interaction between that genetic legacy and numerous environmental factors.
Even a simple reference to 'the environment' understates the dynamic and multifaceted nature of this relationship. At the most simple level, the quality of the 'environment' - a nutritious diet, access to good health care, opportunities for exercise - will allow the full expression of genetically inherited traits, such as height. Over a lifetime, other aspects of the physical environment also will shape human health and development - for example, air and water pollution, endemic disease, workplace safety, drought and war. Choice and chance also play an important role - smoking and skydiving pose dangers to health unrelated to genetic inheritance, and a high speed, head-on car accident will always trump good genes.
The 'environment' is also full of social constructs that affect our well-being and the opportunities to reach our full potential. If a community prohibits women from receiving higher education, or bars from employment (expressly or through discrimination) members of certain racial or ethnic groups or persons with a physical disability, then inherent intellectual ability will count for little. Similarly, if a community is pre-occupied with idealised (and atypical) body images, then this may contribute to severe eating disorders and ill health in otherwise healthy young people.
Is genetic information 'special'?
One of the threshold questions for the inquiry is whether there is something so 'special' about genetic information - as distinct from other forms of health information - that it compels different treatment in the relevant legislation and regulatory systems.
For at least 100 years, doctors, employers, insurers and others have requested information about family medical information - much of which amounts, in effect, to genetic information - in order to provide advice or to make assessments about the future health of an individual.
Medical information already receives special treatment with regard to the new privacy laws and policies.[46] One of the key issues for the inquiry is whether genetic information is so fundamentally different from other forms of health information that it requires a separate or special regime to regulate its collection, use and disclosure.
Some of the characteristics that may differentiate genetic information from other forms of health information include:
· Virtually every cell in a person's body (with the exception of sex cells) contains all of his or her genetic code. Therefore, the testing of any biological sample can reveal the full complement of a person's genetic information. There is also potential for stored genetic samples to be re-tested as new tests and techniques are developed, or our understanding of genetic conditions is advanced.
· As noted above, while each person's genetic information is unique,[47] it also can reveal information about - and therefore have implications for - that person's parents, children, siblings and other relatives (and as mentioned, perhaps even people outside the family, such as members of an ethnic group). Similarly, genetic information is capable of revealing 'family secrets', including information about paternity (or non-paternity), adoption, or the use of artificial reproductive technology.
· The predictive nature of some genetic information means that disclosure may lead to unlawful discrimination or other negative consequences for the individuals to whom it relates.
· The science relating to genetic information is new and developing, increasing the possibility that genetic information may be inaccurate or subject to misinterpretation. Individuals may not always be able to be advised about the long-term implications of this information.
Professors Annas, Glantz and Roche of the Boston University School of Public Health, the authors of the US Model Genetic Privacy Act (which strongly influenced the Stott Despoja Bill in Australia) have argued that genetic information is sufficiently unique and more powerful than other forms of health information so as to require special protection or other exceptional measures:
To the extent that we accord special status to our genes and what they reveal, genetic information is uniquely powerful and uniquely personal, and thus merits unique privacy protection.[48]
Annas, Glantz and Roche offer three justifications for this view. First, that a person's DNA 'can predict an individual's likely medical future for a variety of conditions'; indeed, they argue that one's DNA is a:
Coded probabilistic future diary because it describes an important part of a person's unique future and, as such, can affect and undermine an individual's view of his/her life's possibilities. Unlike ordinary diaries that are created by the writer, the information contained in one's DNA, which is stable and can be stored for long periods of time, is in code and is largely unknown to the person. Most of the code cannot now be broken, but parts are being deciphered almost daily.[49]
Second, that genetic information about an individual also 'divulges personal information about one's parents, siblings, and children'.[50] Third, that there is a legitimate worry about the possibilities of genetic discrimination, since there is a history of genetics being used to stigmatise and victimise. Gostin also suggests that there are 'compelling justifications' for special privacy protection for genetic information, which are grounded in:
the sheer breadth of information discoverable; the potential to unlock secrets that are currently unknown about the person; the unique quality of the information enabling certain identification of the individual; the stability of DNA rendering distant future applications possible; and the generalizability of the data to families, genetically related communities, and ethnic and racial populations.[51]
However, there also are some strong arguments that genetic information is not fundamentally different from other sorts of health and medical information, and therefore does not merit special treatment. On this view, genetic information is neither distinctive nor unique in its ability to predict an individual's future health, but indicates only a rough range of probabilities. Information about family history, lifestyle (smoker or non-smoker, skydiver or race car driver, miner or office worker) and non-genetic test results (eg for hepatitis, HIV, cholesterol, blood sugars) also provide important clues to assessing current and future health.
Similarly, other non-genetic test results or diagnoses will contain very sensitive information, with the potential for causing distress, discrimination and stigma (such as a clinical diagnosis of depression or mental illness, or positive test result for HIV-AIDS, tuberculosis, Hepatitis-B, or a sexually transmitted disease).
An individual's need for health care will depend on a complex mix of factors - both genetic and non-genetic - and most diseases and risks do not fall neatly into either category. Thus, it may be making an artificial distinction to regulate separately, in all cases and contexts, the handling of genetic information, as opposed to all other forms of health and medical information.
The Chair of the ELSI Task Force on Genetic Information and Insurance, Thomas Murray, has suggested that much of the drive behind genetic exceptionalism is based upon an image of genetic information as 'a mysterious, powerful and inexorable force that will dominate and control our futures'.[52] Murray disputes the view that the predictive nature of genetic information compels special treatment, given that many other factors and forms of health information 'afford equally interesting predictions' and 'have implications for future health that are every bit as cogent and sensitive as genetic predispositions.'[53]
Similarly, Murray also dismisses the argument based around the greater potential for discrimination, stating that:
Again, genetics is not alone. Institutions and individuals can and have used all sorts of information, both visible and occult, as the basis for discrimination. In underwriting for health insurance, for example, insurers use evidence of current disease or future disease risk - whether it is genetic or non-genetic doesn't matter - to decide who gets a policy, what the policy covers and how much it costs.
. Perhaps what really frightens and galls us about discrimination on the basis of genetic information is its reliance on information about us over which we have no control and may not even know ourselves. Here again it is the hidden and mysterious nature of genetic information, joined with its aura of power and ubiquity, lurking close beneath the surface of our discomfort.[54]
In abandoning 'genetic exceptionalism', Murray writes that the Task Force ultimately concluded that:
there was no good moral justification for treating genetic information, genetic diseases, or genetic risk factors as categorically different from other medical information, diseases or risk factors. . Our need for health care in most cases will be the product of a complex mix of factors, genetic and non-genetic, both within our the scope of our responsibility and outside of that scope. The distinction between genetic and non-genetic factors is not the crucial one.[55]
Other questions arise from the fact that, until now, individuals and society have not had to deal with predictive information of such quantity and ostensible accuracy, and there is no considered community view about access to and use of predictive genetic information by family members and people or organisations outside the family.
There may be greater pressures to gain access to and incorporate genetic information into decision making by others (such as employers, insurance companies or public authorities) where information about a person's future - even though imprecise or exaggerated - could be of importance. Genetic support groups, for example, have related many instances to the inquiry in which test information or the nature of a particular condition is misunderstood or mistakenly applied - even by health professionals - resulting in adverse consequences for the person concerned.
At the same time,genetic information has the corresponding potential to empower people to make choices about health for themselves and their families to a much greater extent than is the case with most other health information. Genetic testing for PKU, haemochromatosis, glaucoma, some cancers and other medical conditions can alert the individual to begin preventive measures before the disease causes harm.
Precisely because genetic information is familial in nature, much of it will come as no surprise; indeed, it can often provide great relief to those who receive the data - at least where this is accompanied by the appropriate genetic counselling. It is relatively rare that individuals learn of a risk through genetic testing that they did not already anticipate.
Further, there should be no implication that 'genetics' is about bad things. In truth, there is no such thing as an 'HD gene' or a 'breast cancer gene' - these genes are (in most of us) genes for health. Community and professional education and the ready availability of information when needed can minimise misunderstanding of, over-reaction to, and misuse of, genetic information.
Building blocks for advancing the inquiry
Following the central issues stipulated in the terms of reference, the inquiry has developed its research and consultation program around four 'building block' areas. Thus, the Issues Paper provides, in some detail for public edification, material on:
· the role of ethics, specifically the sub-field of bioethics, in influencing medical practice and medical and scientific research on human subjects, and in protecting societal interests;[56]
· the existing framework of Australian law protecting privacy - especially in relation to the privacy of health information, including genetic information, medical records and other health information. These laws include the recent landmark extension of federal privacy laws to the private sector;[57]
· the existing framework of anti-discrimination laws and practices in Australia, with special reference to the possible application of disability discrimination law to the area of genetic information, as well competing or complementary regimes governing such areas as occupational health and safety;[58] as well as
· a basic primer on the emerging genetic science and technology, especially in relation to the availability and use of genetic testing and the construction of genetic information.[59]
Particular contexts in which genetic information may be used
The inquiry has then considered the application of these building blocks across a broad range of contexts in which genetic information is - or may in future be - used. Other than genetic databases, registers and tissue banks, which are discussed in more detail below, these contexts include:
· Medical and other human research. The inquiry is examining ethical, privacy and related legal issues with respect to the use of genetic samples and information in the conduct of medical and other research involving humans. The inquiry is asking questions about how the current system, largely based on review of research proposals by Human Research Ethics Committees, operates in practice and whether the existing regulatory framework adequately protects genetic samples and information.[60]
· Clinical practice. The inquiry is considering the role of doctors and other health professionals (such as genetic counsellors) in the protection of human genetic information. Medical practitioners provide advice on diagnostic and treatment options for genetic conditions, facilitate access to genetic testing, and provide advice and counselling on the implications and results of genetic tests. As health care providers, medical practitioners are important 'gatekeepers' of genetic information: they collect and store genetic information in health and medical records, and help to determine when and how genetic information is used or disclosed, and for what purposes. The inquiry is examining the existing regulatory framework that governs how medical practitioners handle genetic information, including the common law, legislation, guidelines and professional ethics.[61] Evidence before the inquiry to date suggests that there is a great need to provide more specialised general counselling services, as well as to ensure that doctors develop a higher level of knowledge in this area.
· Systemic health administration. The collection, use and disclosure of genetic information and samples raise important systemic health administration issues. These include resource allocation issues raised by the increasing availability and potential use of genetic testing; population screening programs, such as newborn screening ('Guthrie cards'); the extent to which epidemiological use may be made of genetic information, especially broad population databases (eg Guthrie cards); and the development of linked electronic health record systems, including the proposed national health information network.[62]
· Employment. The inquiry is considering the use of genetic information in employment, both in the workplace as well as in the process of applying for work. Generally, employers might seek access to an employee or job applicant's genetic information for the purpose of minimising risk in the workplace or to the public generally; to minimise their own business costs; or for occupational health and safety reasons. Indeed, there are strict common law and statutory obligations imposed on employers to maintain high standards of health and safety for all workers, as well as for customers and others. On the other hand, federal and state laws affirm the rights of individuals to be free from unfair direct or indirect discrimination in the workplace. Individuals also may be concerned about the privacy of their genetic information, and may desire assurance that employers will neither gain access to such information, nor pass it on to third parties, without their consent. There are difficult issues and balances to be struck in this area, particularly where genetic testing may reveal a susceptibility or predisposition to a medical condition, but the person concerned does not presently show any symptoms of that condition, and in fact may never develop the condition.[63]
· Insurance. Given the factors that led to its establishment (see above) - and the continuing strong interest shown in this area during public consultations - the inquiry is exploring in some depth the potential use of genetic testing and information for the purposes of underwriting risk-rated personal insurance policies. Insurance companies, especially life insurers, have collected and used family medical histories for well over a century. In recent times, however, the development of the potential to use information derived from DNA analysis has placed a greater spotlight on the collection and use of personal information by the insurance industry in Australia and overseas. Among the specific issues being canvassed are: how scientific reliability and the actuarial relevance of genetic information should be addressed by the insurance industry and government; the impact that the use of genetic information in insurance may have upon health and medical research; whether genetic information is necessary for underwriting insurance policies; and equity of access issues related to the use of genetic information. Given the strong and comprehensive public health system in Australia, and the use of community-rating for private health insurance (supported by a 30% Government subsidy), health insurance is not a major issue for the inquiry. However, in relation to other forms of risk-rated insurance - such as life insurance, income protection, critical illness protection, etc - the inquiry is very interested in developments in Europe, in which a two-tier system is emerging, with genetic test information excluded from use in the lower value tier of policies.[64]
· Other services, entitlements, etc. Given the potential for widespread use across a vast array of situations, the inquiry is considering a range of areas outside of employment and insurance in which genetic information might be used to determine eligibility for, or the provision of, goods, services or entitlements. For example, should genetic information be used to determine eligibility for certain social security and training programs? Or used by hospitals to determine the allocation of scarce resources (such as organ transplants)? Or used by the Department of Immigration for proof of a family relationship in family reunion cases, or to assess the good health of an intending immigrant? Or used to prove ethnic or Aboriginal or Torres Strait Islander identity? Or used by schools or nursing home authorities as a factor in determining admissions? Or used by sporting associations to determine eligibility to compete?[65]
· Law enforcement. DNA profiling already is a major tool for Australian law enforcement authorities. Contrary to the case with DNA testing in the clinical and research contexts, forensic testing is performed on non-coding or 'junk' DNA, with respect to nine agreed loci, to construct a unique DNA profile for identification purposes, such as for use in criminal investigations (to exclude or to help identify a suspect), in searches for missing persons, and in the identification of unknown deceased persons or body parts. Given its prevalence and widespread community acceptance, the inquiry is not re-thinking the basic policy issues about whether DNA profiling should be permitted. Rather, the inquiry is considering a number of issues of principle and practice in relation to the collection, storage and use of genetic information by law enforcement authorities, including in relation to: harmonisation of disparate regimes across the various jurisdictions; the protection of 'vulnerable persons', such as children; and the development of the National Criminal Investigation DNA Database (NCIDD) operated by the federal agency, CrimTrac.[66]
· Paternity testing and other evidentiary uses . Finally, the inquiry is looking at the presentation and admissibility of DNA evidence in court, both in criminal matters as well as in civil proceedings (such as in relation to establishing paternity in a Family Court matter, or determining causation or the award of damages in a personal injury suit).[67]
Human genetic databases and tissue banks
The inquiry is looking at related issues involved in the collection, storage, use and disclosure of genetic samples and information held in human genetic databases, including in human tissue banks maintained by hospitals and public and private research organisations.[68]
This is an important area in which the interests of researchers - and ultimately the interests of society, since the research is aimed at achieving advances in medical diagnosis and treatment - must be balanced against the interests individuals may have in exercising control over their own genetic information. The privacy concerns raised by human genetic databases include questions about informed consent to the collection of genetic information and the extent of restrictions on the use and disclosure of the information.
The ongoing development of large-scale research databases is a worldwide phenomenon. In this context we have been following developments in a number of countries, including in Iceland and the United Kingdom.
The Iceland health sector database has received much publicity over the last few years. There, as you may be aware, DeCODE Genetics - a private biotechnology company - is aiming ultimately to collect genetic samples from most of the entire population of the country to use the data for linkage analysis and association studies. The database of individual genotype profiles will be integrated with medical records and publicly-available Icelandic genealogies.
In the United Kingdom, a Population Biomedical Collection (BioBank) is planned to study common multifactorial midlife diseases, including diabetes, Alzheimer's disease, and early onset heart disease. Plans exist for the collection of medical and lifestyle information, as well as genetic sample, from about 500,000 people aged between 45-69. The data will be used for studies of the interaction between genetic, environmental and lifestyle factors. The project also will involve linkage of National Health Service (NHS) clinical files, and health, lifestyle and environmental histories recorded by NHS research nurses.
There are many other major research projects of this sort emerging - and much international commentary suggesting that there needs to be a clearer legal framework governing human genetic research databases, as well as systems in place to monitor and enforce adherence to the relevant legal and professional guidelines.
In Iceland, an 'opt out' system of individual consent to inclusion in the database was legislated and has generated some controversy. We understand that, in Iceland, the Data Protection Commissioner (the equivalent of the Australian Privacy Commissioner) is to ensure data security by approving the procedures that DeCODE uses to collect, register and process personal data during the establishment of the database and in its subsequent operation, including the encryption and encoding of data. The Commissioner also is to oversee procedures linking the different databases of medical information, genotypes and genealogies.
In the United Kingdom, the recent House of Lords report Human Genetic Databases recommended that the process of giving consent should be to 'opt in' to the databank, following the receipt and consideration of appropriate information. In March 2002, the House of Lords debate suggested that a special, independent oversight body for BioBank should be formed to establish policy on access to samples and databases, to protect participants and the public interest, and to ensure confidentiality and data security.
No equivalent program is currently in train in Australia. However, the issue surfaced in the media when there were reports that the Australian biotech company Autogen sign agreements in November 2000 with the governments of Tonga, Mauritius, and the state of Tasmania, allowing it to seek volunteers to develop a genetic database and tissue bank, for research into diabetes and other genetic disorders. In exchange, Tonga was promised a research facility; a health database; royalties and profits arising from new therapies developed from this research; and free access to these therapies to Tongans. Concerns were expressed publicly about 'bio-piracy', and the need for particular sensitivity to issues surrounding informed consent with respect to indigenous communities. In the event, Autogen has announced that it would not pursue the Tongan research.[69]
In Australia, an improved framework for protection may depend primarily on harmonised federal, State and Territory privacy legislation and reforms concerning the regulation of medical research generally. However, the inqui