Public meeting: DNA shampoo? Diet and exercise regimes tailored to your own genetic makeup? Cosmetics blended to address your particular ‘wrinkle genes’? A DNA test to determine which sport best suits your child? DNA tests available on the internet to calculate your genetic risk for breast cancer, diabetes or Alzheimer’s disease?
This is no longer the stuff of science fiction—rapid advances in genetic science and technology are greatly expanding the range of DNA tests available, and dramatically reducing the costs. While genetic testing has been the preserve of medical specialists and major teaching hospitals, private laboratories are now advertising their services directly to consumers via the Internet, with costs ranging from $250 for ‘dermagenetics’ to $300,000 for a fully sequenced personal genome with 3.2 billion bits of genetic information.
The Australian Law Reform Commission (ALRC) and the National Health and Medical Research Council (NHMRC) joined forces to explore these issues at a free Public Meeting in Sydney on 7 August 2008: ‘Direct-to-consumer DNA testing: marketing hype or medical breakthrough?’
These developments were foreshadowed by the ALRC in its landmark 2003 report, Essentially Yours: The Protection of Human Genetic Information in Australia. According to ALRC President Professor David Weisbrot, this area is moving even faster than expected: “Just five years ago, no one was advertising medical DNA testing over the internet. However, there are now over 30 labs offering about 40 tests directly to consumers in the US, and there are 4-5 labs doing this here.
“To the extent that the soft end of this just involves new fashions and fads, then maybe community education, consumer law and ‘buyer beware’ will be sufficient. Are these so-called ‘lifestyle DNA tests’ the 21st century version of the ‘mood ring’?
But more importantly, many of the DNA tests being offered have serious implications, since people will rely on them to make critical decisions about their health and well-being. So, do we need tougher laws and more stringent regulation by government authorities?”
Professor Ron Trent of Sydney University, Chair of the NHMRC’s Human Genetics Advisory Committee, stated: “We have serious concerns about DNA tests being offered to individuals without the advice of a health professional. And are these cleverly marketed tests actually based on real medical research? Do these private overseas labs meet our high ethical and technical standards? And who will interpret the complex results of a DNA test, or provide the necessary counselling?”
Prof Weisbrot added, “We want community participation in developing sound policies for regulating this area in the public interest. We will be using the feedback we receive at this Public Meeting to provide advice to Government which will help shape these policies into the future.”
This free Public Meeting was hosted by Bernie Hobbs of ABC-TV’s New Inventors. Speakers will include Professor Weisbrot, Professor Trent, and consumer law expert Vijaya Nagarajan (Macquarie University), with lots of opportunity for public discussion.
Friday, 9 December 2005: Australia will be well placed to meet the challenges posed by rapid advances in genetic science and technology, with the Australian Government accepting most of the recommendations of a landmark report on genetic privacy and discrimination.
Australian Law Reform Commission (ALRC) President Professor David Weisbrot said he was “delighted with the Government’s positive and comprehensive response to the ALRC/Australian Health Ethics Committee report, Essentially Yours: The Protection of Human Genetic Information in Australia”.
“The Essentially Yours report was the product of a two-year joint inquiry by the ALRC and the AHEC, and is still the most comprehensive inquiry ever undertaken into these issues—here or overseas,” Prof Weisbrot said.
“Since its release in 2003, Essentially Yours has been hailed as the ‘bible’ of human genetic protection by experts around the world. For example, Dr Francis Collins, who led the Human Genome Project—the greatest cooperative scientific achievement in history—described the report as ‘truly phenomenal…putting Australia ahead of the rest of the word’,” Prof Weisbrot said today.
The two-volume, 1200 page report made 144 recommendations about how Australia should deal with the ethical, legal and social implications of new genetic technologies.
Prof Weisbrot said the Australian Government’s response, released today, strongly endorses the ALRC’s basic philosophical approach to these new and difficult issues.
“The Government has also accepted the great bulk of our 144 detailed recommendations, including key ones such as the establishment of a Human Genetics Commission of Australia (HGCA), and measures to regulate the collection and use of genetic information in such critical areas as employment; insurance; the delivery of clinical services; ethical oversight of medical and scientific research; sports; human genetic databases; immigration and law enforcement.
“Of course, this is not the end of these matters, and there is still work to be done—especially by the new HGCA and the National Health and Medical Research Council—but I am now very confident that we will have the right policy platform to ensure that Australia is a world leader in the protection of human genetic information as well as in genetic research and medicine,” Prof Weisbrot said.
Presentation by Professor David Weisbrot, President of the Australian Law Reform Commission, to the Symposium on ‘The Legal Implications of Biobanking: An Initial Review of the Legal Infrastructure Development of Taiwan’s Pilot Project’, 8 August 2005.
Following the sequencing success of the Human Genome Project, research into population genetics is likely to bring the next generation of breakthroughs. A number of national and regional ‘biobanking’ projects have been established or planned to facilitate this work, including Iceland’s deCODE, the United Kingdom’s BioBank, Quebec’s CartaGene and now the proposed Taiwan Biobank. Experience with the early efforts (such as deCODE) points to the need for openness and transparency, and ample public education and debate, in order to ensure community acceptance and legitimacy. Once lost, credibility is very difficult to restore.
Extensive public consultation undertaken by the Australian Law Reform Commission (ALRC) as part of its major inquiry into the Protection of Human Genetic Information found strong community support for human genetic research promising breakthroughs in the diagnosis, treatment and prevention of serious disorders. At the same time, rapid advances in genetic science and technology have caused social anxiety about the pace of change, and have led to concerns about the capacity of public authorities to regulate this area effectively in the public interest, especially with regard to: the strength of privacy protections for sensitive personal information; discrimination on the basis of genetic status; the security of databases (eg, from hacking); the effectiveness of ethical safeguards and oversight, especially in relation to informed consent; ownership and intellectual property issues; commercialisation and conflicts of interest; and clarity regarding information flows and outcomes. The ALRC report Essentially Yours also strongly highlighted the need for increased genetic counselling services, to enable patients, volunteers and their families to make informed choices, and to make sense of complex genetic information—typically reported in terms of predispositions and probabilities.
In February 2001, the Australian Government initiated a major inquiry into the Protection of Human Genetic Information, led by the Australian Law Reform Commission (ALRC), in association with the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council (NHMRC). The project culminated in the launch of the report Essentially Yours: The Protection of Human Genetic Information in Australia in the Australian Parliament, on 29 May 2003, by the Attorney-General and the Minister for Health and Ageing.
The Terms of Reference for the joint inquiry (‘the Inquiry’) directed the ALRC and AHEC to consider, with respect to human genetic information—and the tissue samples from which such information may be derived—how best to:
- protect privacy;
- protect against unfair discrimination; and
- ensure maintenance of high ethical standards.
These three central concerns were then explored across a wide array of actual and potential contexts, including (among others):
- the oversight of scientific and medical research;
- public health planning and administration;
- the delivery of clinical genetic services;
- law enforcement uses for forensic purposes;
- insurance underwriting;
- parentage and kinship testing;
- the construction of Aboriginal identity;
- the use of DNA in criminal and civil courts;
- and the management of genetic registers, tissue banks and human genetic research databases (‘HGRDs’).
The breadth of the undertaking accounts for the ‘super-sized’, two-volume, 1,200 pp final report, which makes 144 recommendations for reform, aimed at 31 different ‘actors’, including: federal, state and territory governments; health and medical policymakers (such as the NHMRC); human rights, anti-discrimination and privacy officials; regulatory authorities (such as the Therapeutic Goods Administration); insurers; employers and trade unions; medical practitioners; universities and professional education providers.
In order to monitor and pull together all of this activity, and having regard to the fast pace of change in the science and technology, the Inquiry’s central recommendation was the establishment by statute of an independent Human Genetics Commission of Australia (HGCA).
The HGCA was envisaged as a broad-based body capable of providing cutting edge advice to governments, the health sector, industry and the general community about the scientific and technological advances in human genetics (including those ‘over the horizon’) as well as about the ethical, legal and social implication of these advances. In May, as part of the annual budget process, the Australian Government announced that it had accepted this key recommendation and would provide new funding of $7.6 million over four years, from FY2005–06, to establish an independent, expert Human Genetics Committee, a new principal committee of the NHMRC. A ‘Whole-of-Government’ response to all of the findings and recommendations in Essentially Yours is expected later this year.
It is very gratifying that the report has gained significant attention (and praise) internationally. For example, in his keynote address opening the XIXth International Congress on Genetics in Melbourne in July 2003, Dr Francis Collins—the Director of the US National Human Genome Research Institute and head of the Human Genome Project—described Essentially Yours as ‘a truly phenomenal job, placing Australia ahead of what the rest of the world is doing’.
During the past two years, the ALRC has been involved in detailed discussions about the report’s findings and recommendations with leading government and non-government policymakers in the United States, Canada, the United Kingdom, New Zealand, China, South Korea, Japan, and the Pacific Islands, as well as the OECD, the Human Genome Organisation—and now Taiwan.
2. Public consultation
The major challenge for the Inquiry was to find a sensible path meeting twin goals: to foster innovations in genetic research and practice that serve humanitarian ends, and to provide sufficient reassurance to the community that such innovations will be subject to proper ethical scrutiny and legal (and other) controls.
From the beginning, the Inquiry recognised the critical need for public engagement and widespread consultation, involving the general community as well as experts and interest groups. To this end, an Issues Paper and a Discussion Paper were produced to promote public education and debate; 15 public forums were conducted in the capital cities and major regional centres; about 250 ‘targeted’ meetings were conducted with key stakeholders and community organisations in Australia and overseas; and about 350 written submissions were received.
Our experience in dealing with the Australian public confirms the local and overseas literature in respect of social attitudes to the rise of the ‘New Genetics’; that is, there are strong, but conflicting, feelings in the community about biotechnology. On the one hand, there is considerable optimism about the potential for genetic research to produce important medical breakthroughs in the diagnosis, treatment and prevention of some terrible debilitating diseases, such as diabetes, Alzheimer’s and Parkinson’s, as well as leading to the development of whole new fields of medicine, such as gene therapy, regenerative medicine, and pharmacogenomics. There is also strong support in the general community for the use of DNA technology, analysis and databases by law enforcement authorities.
At the same time, there is an underlying general anxiety in the community about the pace of change—concerns about the loss of control; fears about the beginnings of ‘genetic determinism’ or perhaps even more radical eugenics; and doubts about the capacity of public authorities to regulate this area effectively in the public interest. The specific concerns that emerged, and the suggested responses, are considered below.
3. HGRDs / Biobanks
Following the success of the Human Genome Project in sequencing the complete human genome, researchers are endeavouring to compile large collections of genetic samples and related genetic and other health information in order to aid studies into the causes of disease, drug reactions and environmental interaction with genetic status.
HGRDs will gain increased importance as the multidisciplinary field of bioinformatics develops, with computer science, biology and mathematics combining to produce tools that enable the storage and analysis—at very high speeds by supercomputers—of large quantities of biological, particularly genetic, information.
The successor to the Human Genome Project, the International Haplotype Mapping (‘HapMap’) Project, is also operating an the basis of an international consortium committed to making all of its results available on a public access database—subject to an instant ‘clickwrap’ licence to protect against ‘parasitic’ patenting of this material.
Australia does not currently have—nor are there imminent plans to construct—a population-wide or comprehensive HGRD or ‘Biobank’, such as has been established in Iceland (deCODE), Estonia (the Estonian Genome Project), the United Kingdom (BioBank) and Quebec (CartaGene), and is now being proposed in Taiwan.
However, there was one highly publicised but unsuccessful attempt to establish an Australian-controlled biobank, which is useful to examine. In November 2000, the biotechnology company Autogen informed the Australian Stock Exchange that it had signed an agreement with the Polynesian Kingdom of Tonga, ‘using the unique population resources in the Kingdom of Tonga’ to establish a major health database to identify genes that cause common diseases. It was noted that the ‘unique family structure and isolation of this population together with the high prevalence of a variety of diseases represents a major resource for geneticists’. Media reports also talked of Autogen looking to expand this initiative to include one or more other countries overseas, as well as the Australian state of Tasmania.
Although Autogen’s statement on ethics emphasised the prior informed consent of individual Tongan volunteers, and the company promised to provide needed healthcare facilities, the project soon ran into an international storm of protest, however, and did not proceed. Among other things, there were serious concerns raised within Tonga and outside about: the secrecy of the negotiations, with a poor and vulnerable island state that is the region’s only remaining full monarchy; the potential for ‘bio-piracy’, with the islanders’ genetic resources exploited without fair value; and the possibility of obtaining truly informed consent from individuals, given the powerful and hierarchical communal social structure.
Nevertheless, a large number of smaller or unsystematised HGRDs do exist in Australia, maintained by: universities, research centres and biotechnology companies; public and private hospitals (eg tissue banks, blood banks, pathology samples, paraffin blocks); pathology labs; and familial cancer registers.
Perhaps of most potential importance, there exists a major inchoate national HGRD in Australia, in the form of vast numbers of newborn screening blood spot cards (aka ‘Guthrie cards’), stored in children’s hospitals around the country (with varying degrees of care)—representing a complete, if unorganised, DNA collection of virtually everyone born in Australia in the last 45 years.
Guthrie cards are regarded as ‘health records’, and thus issues relating to storage, access and disclosure are generally governed by privacy legislation. The Australian National Pathology Advisory Committee Guidelines recommend retention of the cards for 25 years, but there is no active program of removing or destroying older cards, while the policy in one state (Western Australia) is to destroy the cards after two years.
Most of the organised HGRDs have been established by research organisations for use in their own studies (although other researchers also may be granted access). For example, the Menzies Centre for Population Health Research maintains a research database comprising extensive genealogical data, genetic samples, and health information supplied by donors, to search for genetic causes of disease. All material is donated by volunteers specifically for the Centre’s research projects.
The Peter MacCallum Cancer Institute in Melbourne established a tissue bank in 1998 to facilitate a number of molecular genetic studies in cancer. Cancerous tissue is obtained from patients via surgical and pathology staff, who liaise with the tissue bank. Patients give broad consent to the storage and use of their tissue in research, and the tissue remains identified to allow continued collection of clinical information that will be used in conjunction with the tissue sample as part of ongoing research. The Queensland Institute for Medical Research (QIMR) has developed a major database of genetic samples taken from twins, which is used for a range of medical research purposes.
Although not yet a significant feature of Australian research culture, donor tissue banks are being constructed on a commercial basis in the United States. Such banks collect tissue from hospitals and process them ready for research. The banks themselves do not conduct research, but sell processed tissue to researchers at other institutions. One example is ‘Gene Logic’, a US tissue repository containing more than 10,000 tissue samples that are made available to researchers and pharmaceutical companies.
4. The regulatory framework
The current methods of regulation and conflict resolution in this field in Australia involve a patchwork of federal, state and territory laws; official guidelines; personal and professional ethics; institutional restraints; peer review and pressure; oversight by public funding authorities and professional associations; supervision by public regulatory and complaints-handling authorities; occasional media scrutiny and exposés; private interests; and market pressures.
The complexity of Australia’s federal system adds substantially to the difficulties in describing, much less reforming, law and practice in this field. For example, the federal government and every state and territory have enacted statutes—sometimes more than one—which touch on privacy interests in human genetic materials and information. Similarly, there are nine different legislative regimes governing forensic procedures involving the collection, analysis and databasing of genetic information—as well as many protocols and agreements aimed at facilitating the sharing of such information.
The ALRC’s brief was to scrutinise the existing regimes, and then tailor them—where necessary and to the extent possible—to the particular needs and demands of genetic testing and information. In some instances, the ALRC recommended new forms of regulation to address existing gaps. Successfully fulfilling this brief has involved not only providing adequate protections against the unlawful use of genetic information, but also putting into place measures and strategies aimed at ensuring a higher order goal: that where such information may be used lawfully, it will be used properly, fairly and intelligently.
5. Ethical oversight
5.1 The National Statement
The NHMRC is the authority that promulgates the principles and procedures applicable to medical research and ethical matters relating to health in Australia, in accordance with the National Health and Medical Research Council Act 1992 (Cth) (NHMRC Act). In 1999, the NHMRC issued the National Statement on Ethical Conduct in Research Involving Humans (the ‘National Statement’)—the ‘Bible’ on ethical research in Australia—which was developed by AHEC after substantial public consultation.
The National Statement has been endorsed by all of the major stakeholders, including all Australian university presidents, the Australian Research Council (which, besides the NHMRC, is the major research grants body), the Australian Academy of the Humanities, Academy of Science, and Academy of the Social Sciences.
Briefly, the National Statement:
- contains ethical principles relevant to all research involving humans;
- requires that particular matters are to be addressed when research involves vulnerable persons—children and young people, persons with an intellectual or mental impairment, persons highly dependent on medical care, those in dependent or unequal relationships, collectivities, and Aboriginal and Torres Strait Islander people;
- requires that specific matters be addressed in the consideration and approval of research involving radiation, assisted reproductive technology, clinical trials, epidemiology, human tissue samples, or genetics; and
- sets out the formation, membership and functions of Human Research Ethics Committees (‘HRECs’).
5.2 Adequacy of informed consent procedures
The theory and practices surrounding ‘informed consent’ to medical procedures have long been vexed questions in bioethics, law and medicine. All researchers understand—and all HRECs now require as a condition of approval—that special care must be taken to ensure that participants in a research project have provided informed consent.
As a matter of practice, this usually involves a signed consent form, following perusal of a document that set out the nature of the research project, any medical risks involved, potential benefits and outcomes, and other material relevant for an individual making a full, free and informed decision to participate. The documentation has significantly improved (and lengthened) in recent years.
When human genetic research reveals information important to the future health of an identified or potentially identifiable participant or his or her offspring, the research protocol must provide for the same consent, counselling and confidentiality protection as would apply in a clinical setting.
In the particularly dynamic context of genetic research, it has become common practice for researchers to seek consent from donors for their tissue to be used in a particular experiment and then stored for possible later inclusion in other experiments, the details and potential implications of which are unspecified. This practice has been criticised in some quarters as inappropriate because, as a matter of principle, valid consent cannot be provided in the absence of full and complete disclosure of the uses to which the tissue is to be put.
However, there is also broad consensus within the medical research community about the need for procedures under which prospective research participants may provide consent for unspecified future research—provided that such research is approved by an HREC (which might, in some circumstances require researchers to obtain renewed consent from the donors).
Suggestions for appropriate procedures often focussed on the idea of ‘tick a box’ consent options; that is, prospective research participants could select from a graduated set of consent options so that in addition to participants being asked to consent to participation in the specified research study, they also could opt to have their tissue or information stored for ‘related’ or ‘unrelated’ future research, and determine whether future use would, or would not, require fresh consent.
Similarly, it was suggested that the language of consent should, in some contexts, be augmented by the concept of ‘donation’ or ‘gifting’: it should be recognised that altruistic individuals may wish to ‘gift’ samples for research purposes—for example by ‘leaving their body to science’ or donating blood to the Red Cross.
The Inquiry recommended that that the NHMRC should further develop its National Statement to provide express ethical guidance on the establishment, governance and operation of HGRDs—and, given the particular nature and patterns of genetic research, to offer ethical and practical guidance on obtaining consent to unspecified future research.
It should be noted that the Inquiry heard concerns—from members of the community and from experts—about the effectiveness of simple ‘de-identification’ practices (such as the use of pseudonyms) as a tool for protecting privacy, especially in relation to HGRDs and Biobanks, since these often contain a large amount of information (birth date, marital status, postal code, hospital admissions, etc) that can be cross-matched and linked back to an individual.
The Inquiry also recommended that the National Statement provide guidance on the use and relative efficacy of such strategies as:
- anonymisation, de-identification and encryption to protect the privacy and confidentiality of volunteers; and
- ‘gene trustee’ or ‘genetic ombudsman’ mechanisms, designed to insure there is an independent element in the process to increase privacy protection and oversee the integrity of consent agreements (see below, in relation to governance).
5.3 Human Research Ethics Committees
The primary function of an HREC is to protect the welfare and rights of participants in research. An often-overlooked secondary purpose of the National Statement, and thus of HRECs, is to ‘facilitate research that is or will be of benefit to the researcher’s community or to humankind’.
Responding to earlier criticisms about the perceived lack of independence of the predecesesor mechanism (‘Institutional Ethics Committees’), HRECs must now comprise a chair; two laypersons; amember with knowledge and experience in the relevant research area; a member with knowledge and experience in care and counselling; a minister of religion or a person who plays an equivalent role in the community (such as an Aboriginal Elder); and a lawyer. About half the membership of an HREC must now be external to the institution (and that figure can be higher).
The National Statement provides that research proposals involving human participants must be reviewed and approved by an HREC. The National Statement sets out requirements that must be followed by institutions or organisations in establishing HRECs, by researchers in submitting research proposals to HRECs, and by HRECs in considering and reaching decisions regarding those proposals and in monitoring the conduct of approved research.
Although AHEC has overall responsibility for monitoring the effectiveness of the system, there is no overarching approval framework and in essence, this is a decentralised, collegial system—with the expected strengths and weaknesses. There are about 220 HRECs in Australia (far higher than in Germany, say, with its larger population) and there is a flat structure—unlike Japan, for example, there is no central body that reviews approvals or hears appeals from refusals.
On the positive side, the Australian system is low cost, largely voluntary, and flexible, tapping local expertise and knowledge of the institution. (And low cost is a particular virtue in a system which generally does not allocate research funds to cover compliance with regulatory requirements.)
5.4 Concerns about HREC performance
There is now a reasonable measure of independence, and sufficient incentives (especially in relation to public funding) to ensure a high degree of compliance. On the other hand, the Inquiry identified a number of significant deficiencies, including that:
- many HRECs are overloaded and under-resourced;
- there is a need for induction and training programs for members;
- there is a need for more accountability and transparency of processes;
- more meaningful monitoring needs to be done;
- multi-centre research, increasingly common, is handled in a very inefficient manner; and
- there is insufficient independence from the institution in some cases.
5.5 Recommendations to strenghten HRECs
The Inquiry made many recommendations directed to the NHMRC and aimed at strengthening the mechanisms through which compliance with the National Statement is enforced, including: taking steps to better support the work of HRECs, and induction programs for new members and opportunities for‘upskilling’ of continuing members.
In order to promote transparency and consistency, and permit effective monitoring by AHEC, the Inquiry recommended that new guidelines be developed and obligations imposed on HRECs to report on waivers granted (in accordance with provisions in the National Statement) to researchers for the use of genetic samples and information in medical research without the consent of the individual(s) who provided the original sample. The Inquiry also called for the NHMRC to develop a quality improvement framework for HRECs, and to consider the introduction of a formal accreditation system for HRECs.
5.6 Coverage of private sector activity?
The Inquiry also noted that a significant ‘loophole’ exists in theory, insofar as compliance with the National Statement is only compulsory for ‘public’ research—with no equivalent requirement for ‘purely private’ research. However, virtually all human genetic research in Australia is either publicly funded or carried out at least partially in publicly funded institutions (universities, public hospitals etc), so there is little or no non-compliance in practice. Further, researchers seeking publication of their results, and companies seeking formal recognition of their clinical trials by regulatory authorities, are unlikely to jeopardise this by avoiding the requirements of the National Statements.
5.7 Other standards for ethical reasearch
In addition to the role of the NHMRC, HRECs and the National Statement, the ethical framework for conducting research in Australia includes the following:
- the Human Genetics Society of Australasia’s Guidelines for Human DNA Banking (the HGSA Guidelines);
- standards for the scientific validity of research, notably the Statement and Guidelines on Research Practice issued by the NHMRC and the Australian Vice-Chancellor’s Committee; and
- NHMRC guidelines applying to specific types of research, such as gene therapy.
5.8 Governance arrangements
In addition to the general registration regime discussed above, the Inquiry recommended in Essentially Yours that there should be requirements in relation to:
- the nomination of a database keeper/custodian who will have clear responsibility for the day-to-day operation of the database; 
- compliance with standards for the collection, use, storage, disclosure and transfer of genetic samples and genetic information held by the database;
- annual reporting to the institutional HREC and AHEC on database operations; and
- provision for audit of the database and its operations, on request by the institutional HREC and/or AHEC.
In addition, guidance could be provided on a range of other matters relating to the operation of human genetic research databases including:
- governance structures, including guidance on the appropriate relationships between the institution, database custodian and the institutional HREC;
- ethical approval processes where external researchers seek access to samples and information stored on the database; and
- guidance on the appropriate use of independent intermediaries to hold codes linking genetic samples or information with identifiers (see also below).
By way of analogy, the Inquiry also made a number of recommendations aimed at strengthening the independent oversight and accountability of DNA databases used for law enforcement purposes. For example, the Inquiry recommended that the Commonwealth Ombudsman and the Federal Privacy Commissioner become members of the board that oversees the operation of the National Criminal Investigation DNA Database (NCIDD).
5.9 Registration of HGRDs?
As part of the package of changes to the National Statement, the ALRC recommended that the NHMRC establish and administer a public register of human genetic research databases, develop conditions of registration, and include provisions so that no genetic research under the National Statement can be conducted using information from a database unless it is duly registered.
The Inquiry concluded that a system for the registration of human genetic research databases would be capable of providing greater transparency and accountability in the operation and use of such databases, without subjecting institutions to onerous compliance costs. Registration would oblige institutions to identify and regularise the research collections that they currently maintain and ensure that the operation of these collections is subject to appropriate governance structures and proper institutional and HREC scrutiny.
Registration would mean that, for the first time, comprehensive information would be available to AHEC, and possibly to the public, about the number and type of research databases, and the kinds of research being conducted using the samples and information they contain. Such transparency may become increasingly important in allaying public concerns about the privacy, ethical and other implications of the continuing development of research databases. Registration also would provide AHEC with the information necessary to enable it to properly advise the NHMRC, and provide guidance to HRECs, on ethical issues relating to the operation of HGRDs.
6. Formal legal protections
The collection, storage, use and disclosure of genetic samples and information held in HGRDs are regulated by a mixture of legislation, guidelines and standards. These include (among other things):
- the legislative framework for the protection of information and health privacy based on the federalPrivacy Act 1988 (Cth) and similar state and territory legislation;
- guidelines made in accordance with the Privacy Act;
- the state and territory Human Tissue Acts, which govern consent for the donation of human tissues for research, and subseuqent use;
- the federal, state and territory laws prohibiting unlawful discrimination that (arguably) may extend to conduct based on a person’s genetic status—such as the federal Disability Discrimination Act 1992 (Cth); and
- the common law duty to exercise reasonable care, which is owed by researchers, research organisations and HRECs to participants in research.
7. Privacy protection
7.1 Privacy protection
The Privacy Act is intended to protect the personal information of individuals and to give them control over how that information is collected, used and disclosed. The legislation sets out certain safeguards that government, private sector organisations and individuals must observe, and also gives individuals rights to access and correct their own personal information.
Under section 6(1), ‘personal information’ is defined as ‘information or an opinion (including information or an opinion forming part of a database), whether true or not, and whether recorded in a material form or not, about an individual whose identity is apparent, or can reasonably be ascertained, from the information or opinion’.
For the purposes of private sector coverage (see below), the Privacy Act also creates a special category of ‘sensitive information’ and gives this a higher level of protection. Sensitive information is defined in section 6 as ‘information or an opinion about an individual’s racial or ethnic origin; political opinion; political association membership; religious beliefs, affiliations or philosophical beliefs; professional or trade association membership; union membership; sexual preferences; criminal record; or is health information about an individual’.
‘Health information’ is separately defined in section 6 as:
(a) information or an opinion about (i) the health or a disability (at any time) of an individual; or (ii) an individual’s expressed wishes about the future provision of health services to him or her; or (iii) a health service provided, or to be provided, to an individual, that is also personal information; or (b) other personal information collected to provide, or in providing, a health service; or (c) other personal information about an individual collected in connection with the donation, or intended donation, by the individual of his or her body parts, organs or body substances.
In keeping with the pattern of legislation in most of the Western world, the Privacy Act contains privacy safeguards set out in a number of Information Privacy Principles (IPPs) and National Privacy Principles (NPPs).
The IPPs cover collection, storage and security, use, disclosure and access to ‘personal information’, which is found in a ‘record’. The ‘golden rule’ operating in this area is that personal information only may be collected and stored with the consent of the individual concerned, and only may be used for the purpose for which it was collected.
An alleged breach of the IPPs may give rise to an investigation by the federal Privacy Commissioner, who has powers under the Privacy Act to make determinations—which only may be enforced by the Federal Court after a new hearing. The Commissioner also can initiate investigations without a complaint and has powers to seek injunctions. In addition, the Commissioner has the power to audit the handling of personal information by Commonwealth agencies.
7.2 Extension to the private sector
Initially, the privacy protection afforded by the IPPs extended only (with limited exceptions) to the personal information handling practices of a federal government ‘agency’, but the Act was extended to the private sector in December 2001—including such entities as private hospitals, doctors and other health practitioners, and insurance companies.
Private sector organisations must comply with the NPPs, which set out how to collect, use and disclose personal information, maintain data quality, keep personal information secure, maintain openness, allow for access and correction of personal information, use identifiers, allow anonymity, conduct trans-border data flows and collect sensitive information. Some of these principles are similar to the IPPs; however, among other differences, the NPPs contain special provisions for ‘sensitive information’, a subset of which is ‘health information’.
Under the Privacy Act, organisations and industries can develop their own privacy codes (for approval by the Privacy Commissioner), which must provide privacy protection of at least equivalent standard to the NPPs; where they do not do so, the NPPs apply as the default position.
Small business operators—defined by section 6D as those with an annual turnover of less than $3 million—have extensive exemptions from the Privacy Act. However, all organisations or individuals that provide health services and hold any health information (except in an employee record) are subject to the private sector provisions, regardless of their size and income. Due to the broad definitions used in the Privacy Act, health service providers are not limited to hospitals, medical practitioners and others traditionally considered to be part of the health care system. Such organisations and individuals may include gyms and weight loss clinics. Alternative medicine practitioners, pharmacists, mental health professionals, optometrists, and social welfare and counselling service providers also would be considered to be health service providers, whether the service is provided face-to-face, over the phone, via mail order or the internet. However, small business organisations that provide no health services, but merely collect and store health information on behalf of others, probably would not be caught by the Privacy Act.
Under Australia’s federal arrangements, most state, territory and local government bodies are not covered by the Privacy Act—including public hospitals and other health service providers. Similarly, private sector health service providers working under contract for a state, territory or local government agency are not covered by the Privacy Act. In all such cases, the applicable practices and protections must be found in the relevant state or territory privacy legislation, although in many cases these apply similar principles to those in the federal law.
7.3 ‘Ownership’ of bio-samples or extended privacy protection?
The Inquiry was concerned about genetic samples and information held in tissue collections maintained chiefly by hospitals or pathology laboratories, which were not collected primarily for use in research (eg archived collections of preserved human tissue, or collections of Guthrie cards), but nevertheless may be valuable research resources for studies into the genetic causes of disease. Genetic testing of stored tissue samples also has potential uses in other contexts, including for parentage or other kinship testing, police forensic investigations, and as evidence in court proceedings.
These secondary uses raise important issues of ethics, privacy and consent. The Inquiry also recommended that the Australian Health Ministers’ Advisory Council (AHMAC) develop nationally consistent rules governing any disclosure or further use (including for law enforcement purposes), of genetic samples and information held in human genetic research databases and other human tissue collections. These rules should be based on the principle that any such disclosure is permissible only with the consent of the person sampled (or a person authorised to consent on his or her behalf), a waiver of consent granted by an HREC, or pursuant to a court order.
The Inquiry considered whether privacy interests in genetic information might be protected more effectively by recognising increased property (or intellectual property) rights over genetic samples. Each Australian state and territory has enacted legislation that regulates the donation of human tissues and organs for transplantation and research (the Human Tissue Acts).
The Inquiry concluded there should be no change to the current position whereby hospitals and pathology laboratories have a proprietary right to preserved samples, but full property rights in genetic samples are not recognised.
Instead, the Inquiry recommended that better articulated privacy laws and consent regimes be used to protect the legitimate interests of tissue donors. One of the more controversial recommendations in Essentially Yours was that the federal Privacy Act and other privacy and health information laws should be extended to cover identifiable genetic samples.
Although this would shift privacy laws from the traditional information/data protection paradigm, there is a clear parallel between data electronically encrypted through computer technology in hard drives, disks or other devices—which is currently afforded protection under privacy laws—and genetic information that is ‘encrypted’ in tissue samples, but readily analysed through biotechnology.
More importantly, coverage through privacy legislation would meet many of the concerns and anxieties expressed to the Inquiry by members of the general public about the privacy and security of their genetic information held by HGRDs. For example, under ordinary privacy principles, genetic samples would not be able to be sent outside of Australia unless reasonable steps were taken to ensure that the privacy interests in the samples are adequately protected by the recipient in the overseas jurisdiction.
7.4 Consent, collection and use of genetic information
Most genetic information about identifiable individuals is obtained from the taking of family medical history or from medical genetic testing, whether diagnostic or predictive, carrier or prenatal. Therefore, such genetic information would likely fit within the definition of health information. Diagnostic testing most clearly counts as health information, since it is information about the health of the individual. Family history and predictive testing would generally also qualify, since it is ‘information or an opinion about the health or disability (at any time) of an individual’ in terms of section 6 of the Privacy Act, even where it deals only with probabilities.
The Federal Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector (2001) state that health information includes ‘genetic information, when this is collected or used in connection with delivering a health service, or genetic information when this is predictive of an individual’s health’. For the same reason, genetic information provided to insurers or employers also may constitute ‘health information’, even though it is not taken for clinical or therapeutic purposes.
The position becomes less clear with respect to other forms of genetic testing. There are circumstances in which genetic information may not be health information as defined in the Privacy Act. For example, carrier testing might fall outside the definition of health information, since it is not information about the health or a disability of ‘an individual’. That is, the health of the test subject is not at issue—the information is about the health of future children. In Victoria, the Health Records Act 2001 (Vic) section 3(1) addresses this by defining health information to include ‘personal information that is genetic information about an individual in a form which is or could be predictive of the health (at any time) of the individual or any of his or her descendants’ (emphasis supplied). Other forms of genetic information that may not fall within the definition of health information include genetic information collected and used to establish parentage or for the purposes of forensic investigation.
NPP 1 provides that an organisation must not collect personal information unless the information is necessary for its functions and must collect personal information only by lawful and fair means and not in an unreasonably intrusive way. Individuals must be informed about various matters such as their access rights, the purposes of collection and to whom the organisation usually discloses information of that kind. In general, an organisation must collect personal information about an individual only from that individual, rather than from any third party.
The Federal Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector state that there are three key elements involved in seeking consent to use health information in particular ways: (1) consent must be provided voluntarily; (2) the individual must be adequately informed; and (3) the individual must have capacity to understand, provide and communicate his or her consent.
Consent is of particular importance in the collection of genetic information, as compared with most other forms of health information, given the special characteristics of genetic information and the ethical considerations involved in decision-making about genetic testing. For consent to be truly voluntary, there must be no undue pressure or coercion. On one view, an individual’s consent may not be voluntary and valid if the individual is denied some benefit or is disadvantaged in some way because they refused consent. These dimensions of consent may become relevant when considering the application of the NPPs to genetic testing by an employer, prospective employer or for insurance purposes.
NPP 10 contains provisions dealing specifically with collection of health information for the purposes of providing health services. Under NPP 10, a health provider generally must not collect sensitive information (including genetic and other health information) unless the individual has consented. However, NPP 10 then sets out a number of specific circumstances in which an organisation may collect sensitive information without consent, including: where collection is required by law; in specified circumstances relating to the provision of health services; and in circumstances related to public interest, such as for research relevant to health and safety—providing that collection is carried out according to certain professional rules of confidentiality.
As noted, some collection of information necessary for research or statistical purposes may be done without an individual’s consent—but only where obtaining consent is impracticable, de-identified information would not be suitable, and the collection is carried out in accordance with guidelines issued by the National Health and Medical Research Council (NHMRC) and approved by the Privacy Commissioner under section 95A of the Privacy Act.
NPP 2 provides generally that an organisation must not use or disclose personal information about an individual for a purpose other than the primary purpose of collection (that is, for a secondary purpose). NPP 2 then sets out a range of circumstances in which an organisation may use or disclose personal information for a secondary purpose, including: where the secondary purpose is related (or directly related in the case of health and other sensitive information) to the primary purpose and the person would reasonably expect such use or disclosure; where the individual has consented to the use or disclosure; and in circumstances related to public interest, such as for research relevant to health and safety and for law enforcement purposes.
The Privacy Commissioner’s Guidelines on Privacy in the Private Health Sector provide a range of examples of secondary purposes for which the use or disclosure of personal information would usually be permissible without consent, provided it is within the reasonable expectations of the individual concerned. These include sharing information with other health service providers within a multi-disciplinary health care approach. Other directly related secondary purposes may include activities or processes necessary to the functioning of the health sector, including use or disclosure in connection with: providing an individual with further information about treatment options; billing or debt-recovery; management, funding, service-monitoring, complaint-handling, planning, evaluation and accreditation activities; addressing liability indemnity arrangements (eg in reporting an adverse incident to an insurer); or disclosure to a clinical supervisor by a psychiatrist, psychologist or social worker.
7.5 Individual or communal rights?
The Human Genetic Project confirmed the very strong familial dimension of ‘personal’ genetic information—we share 99.9% of our genetic sequence with all other human beings, and an even higher percentage with members of our own families and communities.
Most of our laws, ethical principles and regulatory models in Western societies (especially in the English-speaking world) are built around our powerful preference for individual rights and autonomy, and in the medical context, on the primacy of the individual doctor-patient relationship. Yet, as already mentioned, genetic information is by definition shared information.
The Inquiry heard often from doctors and, especially, familial cancer registries that they ‘lived in dread’ of the day they would receive a telephone call from a person dying of cancer, who would say, for example: ‘You treated my sister, whose test showed a predisposition to a familial cancer (such as BRCA1, or colon cancer, or FAP), but we are estranged and she never told me anything about it. However, you are a health professional and all you had to do was make one phone call—and I would have sought my own medical advice, and I probably would not now be in the terminal stages of cancer’. Concern was expressed about both the legal ramifications of this scenario as well as the ethical and moral dimensions.
The late Professor Dorothy Wertz of the University of Massachusetts conducted a number of fascinating cross-cultural empirical surveys, which revealed a marked divergence in approach. For example, in response to questions about whether it would be proper to reveal to genetic relatives the fact that a patient tested positive for Huntington’s disease or for a familial cancer mutation, health professionals in Northern Europe, Western Europe and most especially the English-speaking countries (including Australia, the US, the UK, Canada and New Zealand) placed their focus squarely on the individual doctor-patient relationship and were reluctant to breach this confidence, whatever the consequences for other family members. By way of contrast, health professionals in African, Asian, Latin American, Middle Eastern, Eastern European and Southern European societies were much more likely to value familial and communal interests over individual autonomy.
In a similar vein, there is an urgent need to promote public debate about how we wish to proceed with work on population genetics—especially in relation to the use of collected genetic material. The use of such material—in the case of Guthrie cards, as mentioned, virtually a complete national collection—for epidemiological purposes would have beneficial society-wide effects in terms of research, planning and public health administration. Of course, this would mean some trade-offs against privacy protection for individuals—but is that a price that an informed citizenry would be prepared to pay?
Confidentiality has been a traditional cornerstone of the doctor-patient relationship, and should not be departed from lightly. Nevertheless, the Inquiry felt sufficiently strongly about this to recommend that there may be circumstances in which doctors should be permitted to disclose confidential genetic information to genetic relatives without the patient’s consent. The Privacy Act should be amended to permit such disclosures only where this is necessary to lessen or prevent a serious threat to an individual’s life, health or safety, even where the genetic risk is not ‘imminent’ (as is required under the current language in the Act).
It was also recommended that the Privacy Act be amended to provide that an individual has a limited right of access to genetic information about first-degree genetic relatives, where this is necessary to lessen or prevent a serious threat to his or her life, health or safety, even where the threat is not imminent.
8.1 Biobanking and non-discrimination
The fear of emerging genetic discrimination—especially in insurance, employment and access to government services—was central to the establishment of the ALRC-AHEC Inquiry.
In the context of HGRDs and Biobanks, researchers, doctors and community groups raised concerns that unless adequate legal protections were developed, people would become reluctant to volunteer for research studies or even to undergo needed clinical genetic tests, for fear of suffering adverse incidental consequences. For example, people might fear that a positive genetic test for a disease marker (such as Huntington’s disease, or heritable breast or colorectal cancer) could be used to deny them risk-rated insurance coverage (or to elevate premiums beyond reach) or employment opportunities.
Anti-discrimination laws exist at the federal, state and territory levels in Australia. At the federal level, the major pieces of legislation include the Sex Discrimination Act 1984 (Cth) (SDA), the Racial Discrimination Act 1975 (Cth) (RDA), the Disability Discrimination Act 1992 (Cth) (DDA) and the Age Discrimination Act 2004 (Cth) (ADA). In addition, the Workplace Relations Act 1996 (Cth) contains provisions that prohibit discrimination on a range of grounds in respect of the termination of employment. None of these Acts specifically address discrimination on the basis of genetic status.
8.2 International context
In recent years the international community has been turning its attention to this matter in some detail. The UNESCO Universal Declaration on the Human Genome and Human Rights 1997 recognises that:
research on the human genome and the resulting applications open up vast prospects for progress in improving the health of individuals and of humankind as a whole, but … that such research should fully respect human dignity, freedom and human rights, as well as the prohibition of all forms of discrimination based on genetic characteristics.
While the Declaration is not a binding legal instrument, it is evidence of growing international concern and an indication of the general approach of the international community in this area. Article 2 of the Declaration states that:
Everyone has a right to respect for their dignity and for their rights regardless of their genetic characteristics. That dignity makes it imperative not to reduce individuals to their genetic characteristics and to respect their uniqueness and diversity.
Article 6 goes on to declare that:
No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity.
The Council of Europe’s Convention on Human Rights and Biomedicine, which is a legally binding instrument and has been signed and ratified by 15 countries to date, gives a clear indication of the approach adopted in Europe in relation to this issue. Article 11 states that:
Any form of discrimination against a person on grounds of his or her genetic heritage is prohibited.
It is against this background that the Inquiry was asked to consider whether the protection offered by existing legislation in Australia is adequate.
8.3 Basic structure of Australian anti-discrimination law
Although there are some differences in detail, all of anti-discrimination legislation in Australia embodies the same basic paradigm for identifying unlawful discrimination. For discrimination to be unlawful, an act or omission must:
- be based on one of the grounds or attributes set out in the legislation, such as sex, race, age or disability;
- fall within an area of activity set out in the legislation, such as employment or the provision of goods and services;
- result in some harm or less favourable treatment, whether by direct or indirect discrimination; and
- not fall within an exception, exemption or defence.
The requirement that unlawful discrimination must be based on one of the grounds or attributes specified in the legislation means that the statutory definitions become crucial to the operation of the law. These grounds vary from jurisdiction to jurisdiction, and include race, sex, sexuality, pregnancy, marital status, parental status, age, disability, religion, political belief or activity, and trade union activity. If a person is discriminated against on the basis of an attribute that is not listed in the legislation—for example, intense personal dislike—the victim has no remedy under anti-discrimination law.
The exceptions, exemptions and defences to anti-discrimination provisions mean that, in some circumstances, it is not unlawful to treat some people differentially and disadvantageously, even on the basis of specified attributes. For example, it is not unlawful under the SDA or the ADA for an insurer to discriminate on the basis of sex or age, so long as any distinction drawn is based on reasonable actuarial and statistical data—so that women, with longer average lifespans, and younger people, may be offered lower premiums than men, and older people.
In the same way, the DDA does not simply require that employers and others disregard a person’s disability. Employers and others are expressly required to make reasonable efforts to accommodate disabled individuals so that they are, for example, able to perform the job, despite their disability—but they are not required to take extraordinary steps.
Australian law recognises that discrimination may be direct or indirect. Indirect discrimination—or ‘adverse impact’ discrimination, as it is sometimes called—is less obvious and more difficult to identify, because it focuses on the unreasonable consequences of the discriminator’s action rather than on the particular attributes of the individual concerned. For example, many metroplitan police forces have abandoned minimum height requirements in recent years, because this had an adverse impact on women and on persons from certain ethnic backgrounds.
Although it is conceivable that a complaint of discrimination on the basis of genetic status could be based on race (say, by a carrier of Tay-Sachs disease or sickle cell anaemia, which run predominately in people of Jewish or African ancestry, respectively) or gender (say, by a woman with a genetic mutation for breast cancer or male with ‘fragile X’ syndrome), most such actions are likely to arise under the DDA.
Under the DDA, disability discrimination is prohibited in employment, education, access to premises used by the public, provision of goods, services and facilities, accommodation, buying land, activities of clubs and associations, sport and the administration of Commonwealth government laws and programs.
A product of its time, the DDA was designed to apply to unlawful discrimination based on a person’s physical disability, mental illness, intellectual disability or HIV-AIDS positive status (‘the presence in the body of organisms capable of causing disease or illness’)—but there is no express reference to genetic status.
8.4 Guarding against genetic discrimination
The Inquiry recommended that, in order to provide a consistent approach to addressing genetic discrimination, the DDA and related laws and regulations should be amended to make clear that they expressly apply to discrimination based on genetic status.
Consistent with its general approach in eschewing genetic exceptionalism, the Inquiry rejected suggestions, and precedents from some other jurisdictions, calling for a dedicated new ‘Genetic Non-Discrimination Act’. As with privacy laws, the ALRC concluded that it would make for better policy and practice to deal with the issues by adapting the existing regulatory framework.
Importantly, the ALRC also took a strongly interventionist approach to the use of genetic testing and information in the employment area—recommending that, as a general rule, employers should not be permitted to collect or use genetic information in relation to job applicants and employees. Exceptions to this should be permitted only in rare and compelling circumstances—for example, where such action is necessary to protect the health and safety of workers or third parties, and the action complies with stringent standards developed for this purpose by the proposed Human Genetics Commission of Australia (HGCA), in consultation with the National Occupational Health and Safety Commission (NOHSC).
9. Genetic counselling services
The Inquiry heard consistent complaints from members of affected communities (patients, genetic support groups, etc) about most doctors’ lack of knowledge of genetics—and this included not only GPs but also (or perhaps especially) leading specialists (in fields other than medical genetics).
The literature about how to communicate risk to patients contains many fascinating studies about how members of the community understand and apply concepts of risk and probability. The short answer is, they don’t—even the well educated do poorly, yet this skill is essential for coming to grips with the predictive power of genetics. This literature emerges partly from the health and medical context, and partly from researchers in logic and mathematics—however, the conclusions are mutually reinforcing since most people seem to be unable to distinguish between good and bad risks in the doctor’s office or at the casino.
This situation points very strongly to the need for increasing the availability of qualified genetic counsellors in Australia. The Inquiry heard story after story, from individuals and families, about learning through a diagnosis, test or family history that they were affected by a genetic disorder. In the initial stages, this rarely involved much accompanying information, since so many doctors do not possess the necessary level of knowledge about clinical genetics, nor do they have the communications skills to explain to lay people concepts like penetrance, predisposition, and probability.
In the normal way of the modern world, people would go home, type the name of the genetic condition into ‘Google’—and then scare themselves witless. It is only after they had been able to meet with a genetic counsellor that affected individuals and their families got some real sense of their position, prospects and options. Often they are put in touch with genetic support groups, which also play an extremely important role—providing support, information, practical advice, advocacy services and a sense of community. In the case of rare genetic conditions, virtual communities emerge and engage through the internet. The Inquiry was told very often about how reassuring it was for affected families to meet others who are experiencing the same feelings and coping with the same problems.
I have said on a number of occasions that if a ‘hero’ emerged during the course of the ALRC-AHEC inquiry, it would have to be the genetic counsellor.
10. Access and equity concerns
Another commonly expressed concern at public meetings was about access and equity—the fear that yet another major modern technology with the potential to make life better might, in practice, tend to drive up the costs of healthcare and increase the divide between the ‘haves’ and the ‘have nots’.
A number of people at the meetings also surmised that while ‘smart drugs’ based on modern pharmacogenomics is ostensibly a good thing, the resulting markets for individualised and customised drugs would be smaller and more fragmented—resulting in more effective drug therapies, but at much higher prices. Concerns were expressed, by Aboriginal people among others, that this would tend to shape the research programs for drug companies, prompting them to focus more on ‘white, middle class, lifestyle diseases’ than on diseases associated with poverty or those primarily affecting the poor and disadvantaged.
These issues also featured in the ALRC’s subsequent inquiry into the intellectual property aspects of genetic materials and technologies, also known as the inquiry into ‘Gene Patenting and Human Health’. This project explored the balance between encouraging investment and innovation in biotechnology and ensuring that further research and the delivery of cost effective clinical genetic services are not compromised.
It was very striking that at virtually every public meeting held by the Inquiry, the same concern was expressed in almost identical terms: ‘We can see the value of medical research into genetics, and we generally would be happy to participate by giving information, blood or tissue to facilitate this research. However, we are not comfortable with the heavy degree of commercialisation of this research, and we definitely do not want our altruism to lead to billion dollar profits for multinational pharmaceutical companies’ (usually expressed as ‘American pharmaceutical companies’!). Perhaps it is no surprise, then, that when novelist John Le Carre needed a new entity to replace the fallen Soviet Union as the ‘Evil Empire’ in The Constant Gardener (2001), he chose ‘Big Pharma’ for this purpose.
Another concern that clearly emerged at the public forums is the atavistic or primal fear among members of the community about their genetic material being sent ‘overseas’ (again, often expressed as being ‘sent to the US’). At almost every event, someone in the audience expressed concern about volunteering for an experiment at an Australian university research lab or teaching hospital, then finding that the research group had ‘spun off’ into a private biotech company, which then merged with or was taken over by American interests—and ‘the next thing you know, your DNA is overseas!’
Interestingly, it was not the profit motive or commercialisation per se that worried most members of the community, but rather the lack of transparency—there was considerable anger expressed by research participants who subsequently found out that their doctors or the research scientists had undisclosed financial interests in the project. Any hint of a monopoly or exclusive commercial arrangements—such as those associated with Iceland’s deCODE Genetics and pharmaceutical company Hoffmann La Roche—is likely to arouse great antipathy.
Empirical evidence about public attitudes to research in the United Kingdom is instructive. A survey conducted by the UK Human Genetics Commission has found that levels of public trust in the responsible use of human genetic information vary markedly, depending on the nature of the individuals or bodies holding it. In particular, respondents trusted academic scientists more than health and pharmaceutical companies.
Another report on qualitative research connected with the development of the UK BioBank initiative concluded that the fact that sample collection would be a ‘publicly funded initiative and not set up as a profit-making exercise was reassuring and important in communicating its credibility’. The report indicated that:
[t]here are likely to be questions from the general public and in the media about commercial access to, and use of, the samples and information. Assuming samples are donated freely by donors, there needs to be careful explanation of the financial implications of this.
Leading Australian academics have expressed the view that, from an ethical perspective, ‘the potential for commercial exploitation’ of genetic samples and other biological materials is a very relevant consideration when individuals decide whether to consent to participate in research, given that participation is typically altruistic in nature.
The Inquiry accepted that there is a clear need for open and transparent disclosure, to prospective research participants, of the potential commercialisation of research outcomes and the commercial interests of the researchers involved. It was suggested that such disclosure may protect the interests of both prospective research participants and researchers themselves:
In order to avoid feelings of exploitation, and possibly even deception, it is of crucial importance that they be given the opportunity to consent to participation in the knowledge that there is a possibility of commercial gain being made from their donated biological material. To do otherwise risks damaging the perception of research and may thereby reduce the willingness of people in the community to participate.
The National Statement contains a number of provisions relating to the disclosure of funding and financial interests. However, there is no general requirement to disclose this information, or other information about the actual or anticipated commercial arrangements connected with the research, to research participants. The National Statement provides that a researcher must disclose to the HREC reviewing the research proposal the amount and sources or potential sources of funding for the research and must declare any affiliation or financial interest. The HREC must consider the extent to which the researcher should disclose information about funding sources to research participants. The HREC may decide that no such disclosure is justified. (The disclosure requirements in relation to clinical trials are somewhat more rigorous.)
The Australian Academy of Sciences submitted to the Inquiry that ‘all applications to HRECs should be required to include details of any commercial support obtained or envisaged’. The Australian Red Cross Ethics Committee stated that:
there should be transparent disclosure to research participants of the potential commercialisation of research outcomes, as well as any conflicts of interest. … [The] Committee requires disclosure of commercial arrangements for funding or product development. No researcher has ever raised any objection. In fact most researchers provide a full explanation of the commercial aspects of the research. We should also point out that our standard-model information form includes specific questions on commercialisation. There has been a general acceptance of the disclosure principle.
The ALRC endorsed this approach and recommended that the NHMRC develop information and advice on the disclosure by researchers, to research participants, of information about actual or anticipated commercial arrangements connected with human genetic research proposals.
Even where the developers of an HGRD have been attentive to issues of privacy protection, there is a residual anxiety about the secure nature of such sites, given the sensitive information held.
At a number of the ALRC’s public meetings, concerned were raised about the apparent ease with which computer hackers had accessed supposedly high security websites run by banks and governmental authorities (including military and intelligence agencies), as well as errors made which exposed restricted material (such as credit card details) on websites or left paperwork (such as tax returns which had not been shredded) in a public place.
13. Cost-benefit issues
Although there is generally strong support in the community for medical and scientific research in human genetics, given the high costs and the other potential risks involved (privacy, security, etc) it is by no means universally accepted that it is better to focus on ‘the gene for obesity’ than on unhealthy diets, or that biobanking is ‘the most effective and cost-effective way to reduce the incidence of common diseases’.
Professor Hank Greely of Stanford Law School has noted that ‘the only thing certain about these population-wide, genotype-phenotype resources is that they are staggeringly expensive’.
In order to assure public support, those establishing biobanks must provide an honest assessment of the value and cost-effectiveness of this type of high-end research.
There are a number of key lessons that emerge from the ALRC’s community consultation program and from the controversies that surrounded, stalled or derailed the establishment of some of the early biobanks—such as Iceland’s deCODE (1998), Autogen’s Tonga database (2000), and a proposed biobank in the Canadian province of Newfoundland (2000).
Contrary to the situation in Europe, it was evident in the meetings, consultations and submissions that Australians have not lost faith in the possibility of effective regulation of biotechnology in the public interest. In part, this is as a result of good management to date; however, it is at least as much the result of good fortune, insofar as Australia (unlike Europe) has not suffered any public health crises or major scandals in this area that have sapped public confidence. Similar surveys in North America indicate that Americans are ‘confidently supportive’ and Canadians are ‘cautiously supportive’ of genetic research, are willing to rely on the advice of scientific and technical experts about risk, and ‘want governments to manage the risks and take a leadership role’.
First and foremost, there is a clear need for openness and transparency, and ample public education and debate, in order to ensure community acceptance and legitimacy. Experience demonstrates that once lost, credibility is very difficult to restore.
As noted above, in Australia, the ALRC-AHEC Inquiry recommended the establishment of a new high-level body to provide the government and the community with an independent and authoritative voice—and one that is as aware of the ethical, legal and social legal implications of the technology as it is of the hard science.
Strong attention also must be paid to ensuring that other concerns—about privacy, discrimination, informed consent, governance, security, commercial fairness and financial probity—are addressed in structural terms and monitored thereafter, in order to maintain public confidence and avoid a backlash that inevitably would imperil such research.
. Australian Law Reform Commission (ALRC), Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96, 2003); available online at <http://www.austlii.edu.au/au/other/alrc/publications/reports/96/>.
. See Department of Health and Ageing, ‘Leading Australia’s Health into the Future’, available online at <http://www.health.gov.au/internet/budget/publishing.nsf/Content/health-budget2005-hbudget-hfact6.htm>.
. Quoted in ALRC Media Release, ‘ALRC work praised at World Genetics Congress’, 14 July 2003; available online at <https://www.alrc.gov.au/media/2003/mr0714.htm>.
. ALRC, The Protection of Human Genetic Information (IP 26, October 2001), available online at <http://www.austlii.edu.au/au/other/alrc/publications/issues/26/>.
. ALRC, The Protection of Human Genetic Information (DP 66, August 2002), available online at <http://www.austlii.edu.au/au/other/alrc/publications/dp/66/>.
. W Lowrance, ‘The Promise of Human Genetic Databases’ (2001) 322 British Medical Journal 1009.
. To provide an example of the sort of advances that are being made in this area, in 2003 the Australian media reported that a PhD student at the University of New South Wales was successful in making correlations among 15,000 mouse genes. This took a supercomputer (shared by a number of universities) 32 hours; a standard desktop computer would have taken 5,700 years to complete the same calculations: Kate Mackenzie, ‘5700-year gene puzzle cracked’, The Australian, 25 November 2003, 29. The Institute for Molecular Bioscience (IMB) at the University of Queensland—at which I am an Honorary Professor—has been investing heavily in advanced information technology hardware, as well as ‘headhunting’ internationally for the leading thinkers who can drive developments in this area.
. See <http://www.hapmap.org/>.
. See <http://www.hapmap.org/downloads/datarelease.html> for the HapMap Data Access Policy and <http://www.hapmap.org/cgi-perl/registration> for the clickwrap licenses.
. ‘HGRDs’ is the term used by the OECD, although ‘Biobank’ is also widely understood. This paper does not deal with the DNA identification databases operated by all of the federal, state and territory police forces, and used for criminal investigation and victim/missing person identification—all of which are established under legislation: see the Crimes Act 1914 (Cth), Part 1D; Crimes (Forensic Procedures) Act 2000 (NSW); Crimes (Forensic Procedures) Act 2000 (ACT);Criminal Investigation (Identifying People) Act 2002 (WA); Forensic Procedures Act 2000 (Tas); Crimes Act 1958 (Vic);Criminal Law (Forensic Procedures) Act 1998 (SA). This area was covered in considerable detail in Essentially Yours, Part J, Ch 39–45.
. ABC News, Clean Genes: Genetically Pure Polynesian Paradise Pegged for Research, ABC News Online, <http://abcnews.go.com/sections/living/DailyNews/genes_tonga001122.html>, 22 November 2000; Megan Howe, ‘Australian company buys rights to Tonga gene pool’, The Lancet Oncology, 2001 (January), 2(1).
. Bob Burton, ‘Proposed genetic database on Tongans opposed’, British Medical Journal (23 Feb 2002); 324 (7335): 443.
. However, it is less clear what the status is of the blood sample once it is removed from the card—the blood/DNA no longer constitutes a ‘health record’, and would no longer be governed by the Human Tissue Acts (or, apparently, any other current law).
. The Centre is affiliated with the University of Tasmania; see its homepage at <www.menzies.utas.edu.au/>.
. Submission of the Peter MacCallum Cancer Institute to the inquiry, Submission G071, 7 January 2002.
. D Smith, ‘Differences in intelligence linked to two DNA regions’, Sydney Morning Herald, 25 July 2005, <http://www.smh.com.au/news/national/differences-in-intelligence-linked-to-two-dna-regions/2005/07/24/1122143730144.html>.
. GenomeWeb Staff Reporter, New Tissue Repository Firm to Close Microarray, IP Collaborations in 6 Months, GenomeWeb, <www.genomeweb.com/articles/view.asp?/Article=2002627173511>, 27 June 2002.
. National Health and Medical Research Council, National Statement on Ethical Conduct in Research Involving Humans (1999), NHMRC, Canberra. The National Statement is supplemented by commentary in the Human Research Ethics Handbook (2002), NHMRC, Canberra. The National Statement replaced the NHMRC’s Statement on Human Experimentation, first issued in 1966.
. See Martin Enserink, ‘Opponents Criticize Iceland’s Database’, Science (October 30, 1998), 282: 859.
. Preamble to the National Statement.
. Human Genetics Society of Australasia, Guidelines for Human DNA Banking (1990).
. NHMRC and Australian Vice Chancellors’ Committee, Statement and Guidelines on Research Practice (1997).
. NHMRC, Guidelines for Ethical Review of Research Proposals for Human Somatic Cell Gene Therapy and Related Therapies (1999).
. Cf NHMRC, Guidelines for Genetic Registers and Associated Genetic Material (2000) 2.1(e).
. The Inquiry considered, but ultimately did not favour, a more heavy-handed licensing system. The registration approach is meant to be ‘light touch’, with registrants obliged to lodge a form with the appropriate details and showing that at all ethical oversight requirements have been met (eg, HREC approval), rather than being put through a more elaborated or contested process.
. Such as the Privacy and Personal Information Protection Act 1998 (NSW); Health Records and Information Privacy Act 2002 (NSW); Health Records Act 2001 (Vic); Information Privacy Act 2000 (Vic); Health Records (Privacy and Access) Act 1997 (ACT).
. NHMRC, Guidelines Under Section 95 of the Privacy Act 1988 (2000); and NHMRC, Guidelines Approved Under Section 95A of the Privacy Act 1988 (2001).
. Comprised of representatives of all federal, state, territory and New Zealand health ministries.
. This template legislation is based on the recommendations of the ALRC in Human Tissue Transplants (ALRC 7, 1977).
. The Inquiry did suggest that it was timely to review the Human Tissue Acts, given the changes in medical science and technology, as well as in some social attitudes and understandings, over the past quarter-century.
. See, for example, Privacy Act 1988 (Cth), National Privacy Principles, NPP 9.
. The Privacy Commissioner has noted that these professional rules must be binding on the health service provider (that is, the breach will give rise to adverse consequences) and must be established by a competent health or medical body, such as medical boards recognised in federal, state or territory law.
. See eg Dorothy Wertz and John Fletcher, Genetics and Ethics in Global Perspective (Kluwer Academic Publishers, Dordrecht, 2004).
. Universal Declaration on the Human Genome and Human Rights, UNESCO, available at: <www.unesco.org/ibc/en/genome/projet/>.
. Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine (opened for signature 4 April 1997, ETS No 164; entered into force on 1 December 1999).
. Such as the Human Rights and Equal Opportunity Commission Act 1986 (Cth) and the Workplace Relations Act 1996 (Cth). The ALRC also made a parallel recommendation that the states and territories should consider harmonising their anti-discrimination legislation, and other relevant laws, in a manner consistent with the recommendations in the report: ALRC 96, Recommendation 9–5.
. ALRC 96, Recommendation 9–3.
. See ALRC 96, Part H; especially Recommendation 30–1.
. See ALRC 96, paras 23.53–23.74 and Recommendations 23–04 and 23–5.
. See K Yamagishi, ‘When a 12.86% Mortality is More Dangerous than 24.14%: Implications for Risk Communication’ (1997) 11 Applied Cognitive Psychology 495, 495–506; I Lipkus, G Samsa and B Rimer, ‘General Performance on a Numeracy Scale Among Highly Educated Samples’ (2001) 21 Medical Decision Making 37, 37–44; V Denes-Raj and S Epstein, ‘Conflict Between Intuitive and Rational Processing: When People Behave Against Their Better Judgment’ (1994) 66Journal of Personality and Social Psychology 819, 819–829; D Grimes and G Snively, ‘Patients’ Understanding of Medical Risks: Implications for Genetic Counselling’ (1999) 93 Obstetrics & Gynecology 910, 910–914; I Lipkus et al, ‘Relationships Among Breast Cancer Perceived Absolute Risk, Comparative Risk, and Worries’ (2000) 9 Cancer Epidemiology, Biomarkers & Prevention 973, 973–975; B Biesecker and J Garber, ‘Testing and Counselling Adults for Heritable Cancer Risk’ (1995) 17Journal of the National Cancer Institute Monographs 115, 115–118; A Edwards et al, ‘Presenting Risk Information — A Review of the Effects of “Framing” and Other Manipulations on Patient Outcomes’ (2001) 6 Journal of Health Communications 61, 61–82.
. See ALRC 96, Ch 23.
. Australian Law Reform Commission, Genes and Ingenuity: Gene Patenting and Human Health (ALRC 99, 2004).
. Mori Social Research, Public Attitudes to Human Genetic Information: People’s Panel Quantitative Study Conducted for the Human Genetics Commission, <www.hgc.gov.uk/business_publications_morigeneticattitudes.pdf> (19 February 2003), 41. Respondents were asked the following question (n=1,038): Q68 Please tell me which, if any, you trust to use the human genetic information held on medical databases responsibly? The responses included: An expert government scientific advisory committee (39%); Academic scientists (38%); Health and pharmaceutical companies (20%); Government (13%).
. C R Dawson, Public Perceptions of the Collection of Human Biological Samples, MRC and Wellcome Trust, <www.mrc.ac.uk/pdf-biobank_public_perceptions.pdf>, 20 February 2003.
. Ibid, at 17.
. D Nicol, M Otlowski and D Chalmers, ‘Consent, Commercialisation and Benefit-Sharing’ (2001) 9 (1) Journal of Law and Medicine 80, 93.
. Ibid, at 93.
. National Health and Medical Research Council, National Statement on Ethical Conduct in Research Involving Humans(1999), para [2.21].
. Ibid, at paras [12.5]–[12.6].
. ALRC 96, para 16.47.
. ALRC 96, para 16.49.
. ALRC 96, Recommendation 16–1.
. Helen Wallace of GeneWatch UK, in Health Canada, Genomics, Health and Society: Emerging Issues for Public Policy (Symposium Report, March 24–25, 2005) 34–36.
. Quoted in Robert Longtin, ‘Canadian Province Seeks Control of Its Genes’, Journal of the National Cancer Institute (3 November 2004) 96: 1567–1569.
. Sarah Staples, ‘Human resource: Newfoundland’s 300-year-old genetic legacy has triggered a gold rush’, (Sept 2000) 17(3) Report on Business Magazine 117–120.
. Only 45% of Europeans agreed with the statement that their governments regulate biotechnology well enough, compared with 29% who disagreed, and 26% who were not sure: Eurobarometer 52.1, The Europeans and Biotechnology, <www.europa.eu.int/comm/research/quality-of-life/eurobarometer.html>, 19 February 2003.
. Elly Alboim, ‘Public Attitudes Towards Genomics in Europe and North America’, in Health Canada,> Genomics, Health and Society: Emerging Issues for Public Policy (Symposium Report, March 24–25, 2005) 23–27.
Professor David Weisbrot, President, Australian Law Reform Commission
The 8th AIHLE Annual Conference, Hobart, 20 November 2003
First, thank you very much to the Board of the Australian Institute of Health Law and Ethics (AIHLE) and the organisers of this conference, for the great honour of being invited to deliver the opening address.
It is a particularly special honour for me to be asked to do the ‘Kirby Oration’. Justice Michael Kirby was the first and longest serving head of the Australian Law Reform Commission (ALRC). Although it has been nearly two decades, Michael is still a very important figure at the ALRC—he instilled the scholarly and consultative approach to law reform that still informs the ALRC’s processes; and current Commissioners and staff still identify strongly with him (and the feeling appears to be mutual). It is rare that a public institution so clearly bears the stamp of an individual over such a long period. And Michael continues to be a warm, supportive and very generous friend to me.
Justice Kirby is also a leading authority in this field, beginning with his pioneering work at the ALRC that led to the enactment of the Human Tissue Acts in all Australian jurisdictions; he is a member of UNESCO’s Bioethics Committee and the Human Genome Organisation’s (HUGO) Ethics Committee, as well as being the Patron of AIHLE.
If there is anyone in Australia who could make a greater claim to being my ‘guru’ on the ethical, legal and social implications of the New Genetics than Michael Kirby, it would be Professor Don Chalmers—a friend and colleague for over 27 years (beginning at the University of Papua New Guinea), Dean of Law at the University of Tasmania, AIHLE Board Member, and former Chair of the Australian Health Ethics Committee. So for Don to be person introducing me on this occasion, makes it all the more special.
Finally, my invitation to deliver the Kirby Oration also should constitute recognition of the outstanding team at the ALRC—in particular, Commissioner Brian Opeskin—that helped conduct the recent inquiry into the Protection of Human Genetic Information.
I have been doing institutional law reform work off and on for nearly 30 years now, in several different countries—but I have no hesitation in saying that the recent inquiry was one of the most challenging, and easily the most intellectually engaging, in which I have ever been involved.
First, we had to learn to work with the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council (NHMRC), in this joint reference. This could have been a problem, but (like most arranged marriages, I suppose) we learned to love and respect each other. AHEC brought some excellent complementary skills and features to the inquiry—its experience and expertise in bioethics and ethical oversight, and its links with the broader membership of the NHMRC and its processes. At the personal level, relations between the ALRC and AHEC could not have been warmer or more productive—for which I must pay tribute to the Chair, Dr Kerry Breen, the then Deputy Chair, Professor Colin Thomson, as well as Professor Chris Cordner and Father Bill Uren, who played a major role directly and by way of liaison.
The key lesson for the ALRC in working with AHEC was the constant reminder not to pigeonhole ‘ethics’ as something which is relevant only to the practice of medicine and the conduct of research—rather, the ethical dimension was something that we needed to keep in mind across the full range of human interactions and institutions.
We also had to come to grips with, at least, the basics of modern genetics—
- not only the pure science, but also the praxis, in order to make recommendations for the oversight of research that give comfort to the community and accord with the practical realities of life in the lab;
- and also take into account the challenges and practical realities of providing clinical genetic services (by GPs, specialists, genetic counsellors, pathology labs and others).
On the legal side alone, the inquiry had to master up to nine different regimes (in our federal system) dealing with privacy; health privacy; discrimination; occupational health and safety; forensic procedures; insurance; industrial and employment law; evidence, and so on.
Further, we had to come to come to grips with the nature and operations of the insurance industry—the various ‘products’ on offer; underwriting practices; re-insurance practices; review mechanisms; industry education and training, and so on.
One of the great pleasures of this inquiry—really appealing to the sociologist in me—has been the opportunity to engage with these various sectors, and to get some sense of the way they see the world; create, systematise and communicate their knowledge; organise their work; set their priorities; establish and incorporate their ethics and values; and interact with others.
Finally, it is worth commenting on the very constructive way these various sectors engaged with us throughout the life of the inquiry. Although the inquiry had the potential to step heavily on many toes, we were almost invariably treated with courtesy and candour (which, following some other less happy recent experiences, we no longer take for granted) and given tremendous access to material and great amounts of busy people’s time.
The two-year ALRC-AHEC inquiry culminated in the report Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96, 2003), which was tabled in the Australian Parliament on 29 May 2003 by the then Attorney-General, the Hon Daryl Williams AM QC MP, and the then Minister for Health and Ageing, Senator the Hon Dr Kay Patterson.
It is immensely gratifying that the report has been getting great amounts of attention and high praise over the world—including the United States, Canada, the United Kingdom, New Zealand, China, Korea, Japan—and in international forums, such as the OECD and HUGO.
I cannot resist giving you the flavour of the positive comments made by some of the leading figures in this field. Dr Francis Collins, the Director of the National Human Genome Research Institute (one of the National Institutes of Health in the US) and the head of the international public consortium that conducted the Human Genome Project, recently described Essentially Yours as:
a truly phenomenal job … placing Australia ahead of what the rest of the world is doing.
At the same conference, Justice Michael Kirby praised the:
breadth and quality’ of the report and hoped that ‘Parliament will examine the [ALRC’s] proposals and not simply put them into the too-hard basket.
Similarly, Senator Natasha Stott-Despoja described Essentially Yours as:
an extraordinary accomplishment’ providing a ‘world-leading platform for policy development.
Leading British medical geneticist (currently the head of clinical genetics in Oman), Professor Sandy Raeburn, commended:
the excellent report of the ALRC—for the most clear and least biased description of genetics and insurance ever produced.
Canadian commentator Professor Trudo Lemmons, of the University of Toronto, has written that:
The balanced and sensible approach conveyed by the title is found throughout the two-volume report and is a reflection of the impressively thorough background work on which it is based … The final report has benefited from an impressive set of interviews, discussions, and submissions from individual scholars, various organisations and interested citizens from all over the world. The way in which the authors have managed to integrate these contributions is remarkable.
Dr Thomas Murray, currently head of the Hastings Center (for bioethics) in New York and chair of the Human Genome Project’s first Ethical, Legal and Social Issues Working Group, has written that:
Despite the difficulties the quest for comprehensiveness must have posed, the ALRC and AHEC have done an extraordinarily fine job of explaining the science, identifying what is important for the people of Australia, and offering sensible advice. … In its thoroughness, its candour, and its analytical depth, Essentially Yours sets a standard for advice to the public and policy makers on how to understand and protect genetic information.
Some striking features of the inquiry
I have given many talks recently to various stakeholder organisations summarising the principal findings and recommendations in the Essentially Yours report—and I suspect that many members of this audience will have heard one of those addresses. Given the length of the report, we also went to some effort to provide a good Executive Summary, as well as shorter media releases and briefing notes—all of which are freely available on the ALRC’s website (www.alrc.gov.au). Therefore, I thought it would be more interesting for this group—and for me—if I took a somewhat different approach, and tried to highlight some of the main themes that emerged throughout the life of the inquiry.
People Are Interested
First, people in Australia are very interested in learning about the ‘New Genetics’, and the implications of this for themselves and their families. The inquiry featured 15 well-attended public forums around Australia in all of the capital cities and major regional centres; over 200 ‘targeted’ meetings and consultations with key stakeholders and community organisations (eg, research labs, doctors, health officials, genetic support groups, counsellors, the insurance industry, employer groups, trade unions, professional associations, academics, students, privacy groups, human rights lawyers and so on); and more than 300 written submissions.
Thus, in just over two years, the inquiry engaged directly with many thousands of Australians (and this is a conservative figure). This included the expected professionals and ‘experts’—but also many more from the general community and from affected communities. Many more Australians followed the development of the inquiry through the media, or by requesting literature from the ALRC, or by consulting our website—which has recorded very heavy usage for the documents associated with the inquiry.
Usage levels appear to correlate significantly with media coverage—unfortunately, it is difficult to feel that the public is not being badly let down by the media in this area, which—with some notable exceptions—too often provides ‘dumbed-down’, ‘gee whiz’ stories which avoid the complexity and the need for balance in policy formation. There also appears to be far too little in the way of corporate memory—for example, stories appearing soon after the release of Essentially Yours, and dealing with some of the same issues, fail even to mention that Australia has just gone through a major consultative process and policy development exercise. Instead of following up on the progress of the implementation of the Essentially Yours report in Australia, media reports are much more likely to focus on individual cases or to describe parallel developments overseas.
Public ambivalence … and anxiety, but not cynicism
Secondly, the inquiry’s experience in dealing with the Australian public confirms the local and overseas literature in respect of social attitudes to the rise of the New Genetics. Put briefly, there are strong—but conflicting—feelings in the community.
On the one hand, there is considerable optimism about potential for genetic research to produce important medical breakthroughs in the diagnosis, treatment and prevention of some terrible debilitating diseases, such as diabetes, Alzheimer’s and Parkinson’s, as well as leading to the development of whole new fields of medicine, such as gene therapy, regenerative medicine, and pharmacogenomics. Although it may give pause to some civil libertarians, it was also evident to the inquiry that there is strong support in the general community for law enforcement uses of DNA analysis.
And indeed, Australia does ‘box above its weight’ in terms of performance in medical research, biotechnology and related fields. While we have only 0.3% of the world’s population, Australia produces 2.7% the world’s medical research, and we are ranked sixth among the top biotechnology countries in the world. Federal and state governments in Australia have recognised these achievements and have been especially supportive. For example, biotechnology research has been assigned a high priority by the Australian Government in the allocation of competitive research grant funds. In Queensland, Premier Peter Beattie has been a strong supporter of the impressive Institute for Molecular Biosciences (IMB) at the University of Queensland, as evidenced by special funding as well as his vehicle’s number plates, which read ‘BIOTECH’.
At the same time, there is an (understandable) underlying anxiety in the Australian community about the pace of change—concerns about the loss of control; fears about the beginnings of ‘genetic determinism’ or perhaps even eugenics; and doubts about the ability of public authorities to regulate this area effectively in the public interest.
Judging from the public meetings, it appears that these concerns are based, to some extent, on a ‘genetic muddle’—a generalised anxiety which wraps up doubts, misunderstandings and appropriate concerns about genes, genetics, genetic testing, genetic engineering, genetically modified foods, stem cell experimentation, human cloning and xenotransplantation (not to mention Chernobyl, mad cow disease, foot and mouth disease, the Ebola virus and all things deadly).
Another commonly expressed concern was about access and equity—the fear that yet another major modern technology with the potential to make life better might, in practice, tend to drive up the costs of healthcare and increase the divide between the ‘haves’ and the ‘have nots’. (These issues also feature in the ALRC’s current reference on the intellectual property aspects of genetic materials and technologies, also known as the inquiry into ‘Gene Patenting and Human Health’, which is exploring the balance between encouraging investment and innovation in biotech and ensuring that further research and the delivery of cost effective clinical genetic services are not compromised.)
At every public meeting, the same concern was expressed in virtually the same words: ‘we can see the value of medical research into genetics, and we generally would be happy to participate by giving information, blood or tissue to facilitate this research. However, we are not comfortable with the heavy degree of commercialisation of this research, and we definitely do not want our altruism to lead to billion dollar profits for multinational pharmaceutical companies (usually expressed as ‘American pharmaceutical companies!’). Perhaps it is no surprise that when John Le Carre needed a new entity to replace the fallen Soviet Union as the ‘Evil Empire’ in his latest novel, The Constant Gardener, he chose ‘Big Pharma’ for this purpose.
A number of people at the public forums and consultations commented that while ‘smart drugs’ based on modern pharmacogenomics is ostensibly a good thing, the resulting markets for individualised and customised drugs would be smaller and more fragmented—resulting in more effective drug therapies, but at much higher prices. Concerns were expressed, by indigenous people among others, that this would tend to shape the research programs for drug companies, prompting them to focus more on ‘white, middle class, lifestyle diseases’ than on diseases associated with poverty or those which primarily affect indigenous Australians and people in the Third World (eg, malaria)—or the ‘Two-Thirds World’, as I see it is now referred to in the current literature.
Another thing that clearly emerged at the public forums is the atavistic or primal fear among members of the community about their genetic material being sent overseas (again, often expressed as being ‘sent to the US’). So at virtually every event, someone in the audience expressed concern about volunteering for an experiment at an Australian university research lab or teaching hospital, then finding that the researchers had ‘spun off’ into a private biotech company which merged with or was taken over by American interests—and ‘the next thing you know, your DNA is overseas’.
Beyond the implications for the health and well-being of individuals, the New Genetics gives rise to questions as fundamental as what it means to be ‘human’. It is noteworthy that the recent book by American political scientist Francis Fukuyama, Our Posthuman Future: Consequences of the Biotechnology Revolution (Allen & Unwin, 2002), contains a plea for strong government regulation of the biotech sector—this from an ardent conservative free marketeer!
However, for all of that—and unlike the situation in Europe—it was still evident in the meetings, consultations and submission Australians have not lost faith in the possibility of effective regulation of biotechnology in the public interest. In part, this is as a result of good management to date; in part, it is a result of good fortune, insofar as Australia has not suffered any public health crises, like the Europeans, which have sapped public confidence. This leaves open a precious window of opportunity for Australian governments and policymakers which they should not squander—a matter to which I will return later in this address.
The rapid pace of change in genetic science and technology
Third, it is striking how rapidly genetic science and technology has developed—and is continuing to develop—with ‘generational change’ in the knowledge base occurring every few years. The New Genetics is no longer the stuff of science fiction. In just the past few years alone:
- The Human Genome Project has been completed, before schedule and on budget! (The sequencing of the 3.2 billion base pairs cost US$3.2 billion—for those currently looking for guidance in the preparation of grant applications.)
- Significant progress already has been made on the next phase, the Haplotype Mapping (HapMap) Project—also being undertaken by an NHGRI-led international public consortium, which is committed to making all of its results available on a public access database (subject to a ‘click licence’ to avoid ‘parasitic’ use of this material, according to Dr Collins).
- Work on ‘comparative genomics’ is providing increasingly greater insights, as scientists map a range of species for comparison—the human being; the mouse; yeast; roundworm; Arabidopsis thaliana (mouse-ear cress); fruit fly; bacterium E Coli and H influenzae, and so on. It is already part of popular culture that other primates are 97% or more genetically identical to humans, and chimpanzees in particular are about 99% identical. However, even many ‘lower order’ animals and plants have a significant enough similarity to humans to be valuable in studying gene function. For example, mice and human share about 70-90% of their DNA (an average of 85%)—which is why researchers use ‘knock-out mice’ (in which certain genes are ‘knocked out’) in experiments aimed ultimately at understanding the dynamics of human genetics. A fascinating talk delivered at the HUGO Conference in Shanghai in April 2002 by Dr Eric Lander of MIT’s Whitehead Institute pointed to both the potential for comparative genomics, and the complexities. Researchers noted that certain genetic sequences may be found across a large number of species and over a long period of time, from basic organisms first appearing billions of years ago to much more complex and contemporary species, including humans. Assuming that nature must value highly such ‘highly conserved’ sequences, it is logical to assume that these code for proteins with important functions. Researchers then knocked out these genetic sequences in laboratory animals, and found … no discernable result whatsoever! So, we still have much to learn. Along similar lines, the emerging field of ‘epigenetics’ suggests there is also a great deal more to learn about direct environmental influences on the heritable genome, not merely the interplay between genes and the environment in individuals.
- Advances are being made in related new fields, such as proteomics (focusing on the proteins expressed by genes, which is more important to health than the genes themselves); pharmacogenomics (as discussed above); and bioinformatics, which is an attempt to harness super-computing power to explore the genome. As Professor John Mattick, Director of the Institute for Molecular Biosciences at the University of Queensland and one of Australia’s leading geneticists, this makes sense not only because high speed computers are useful tools in sequencing and correlating, but also because of the genome itself is so mathematical in nature.
And apart from health and medical applications, very rapid progress has been made in the use of genetic science and technology by law enforcement authorities. DNA analysis—whether to link a suspect to a crime scene, identify human remains, or help prove innocence—is now a major tool of all modern police forces. Indeed, few media accounts of major criminal investigations these days—from the terrorist attacks on the World Trade Center, in Bali and Turkey; to the mass screenings in Wee Waa and Norfolk Island; to the Falconio case in the Northern Territory—do not include routine reporting of the collection and analysis of DNA for forensic purposes.
However, it is nevertheless worth sounding a cautionary note at this point, because for all of this amazing progress, we also need to maintain some perspective. Although we are getting close to some exciting breakthroughs in advanced medicine, for much of the Third World—again, at least the ‘two-thirds world’ in terms of population—there is still no access to fresh drinking water, to basic healthcare or affordable drugs (although it is looking more promising now that the WTO will finally reach agreement on the production and distribution of cheaper generic drugs).
And in Australia, with our world-class healthcare system and well-managed growth economy, the state of indigenous health is still a matter of national disgrace—and I use that term advisedly. The life expectancy of Aboriginal men is currently 56, or more than 20 years less than for the general population; and there are very high levels of diabetes, eye disease, heart disease, drug and alcohol problems, and related communal violence.
Even in the affluent West, there are significant and growing health problems—although these are primarily the by-products of over-consumption. We read about epidemic levels of adult onset diabetes and juvenile obesity. The Essentially Yours report argued for much more community and professional education about genetics, on the basis that an understanding of genetic health information can be empowering. However, even without knowing much about the secrets of the human genome, our community already knows well the secrets to a long and healthy life: eat a good balanced diet, with lots of fresh fruits and vegetables, and get plenty of exercise.
And yet, when it comes to human nature, the double cheeseburger always seems to trump the double helix.
The wide breadth of actual/potential applications
The fourth striking feature of this inquiry is the wide breadth of actual and potential applications for the use of human genetic information—which accounts for the ‘super-sized’, two-volume, report of 1200 pages, with its 144 recommendations for reform directed at 31 different actors (governments, industry, educational authorities etc).
It seems to me that the advent of the New Genetics represents one of those fundamental paradigm shifts that occur rarely in human history, forcing us to re-appraise almost every area of social interaction and legal regulation—likely to be similar in kind to the impact of that other contemporary paradigm shift, the Information Technology and Communications (IT&C) Revolution, which has the internet as its leading vector.
As documented at length in Essentially Yours, the impact of the New Genetics now extends well beyond science and medicine to such disparate areas as law enforcement; insurance (allegations of genetic discrimination by insurers was one of the main factors leading to the establishment of the inquiry); immigration; the management of tissue banks, genetic registers and databases; family relations (through DNA parentage and kinship testing); the construction of Aboriginal identity; and employment—which I believe will become, in the next few years, the major battleground with respect to the socially (and then legally) permissible uses of human genetic information.
Even in sport—and it is not much of an exaggeration to say we are talking here of Australia’s national religion—advances in genetic science already have begun to raise questions about the value we place on ‘the fair go’, on aspiration and hard work, and the triumph of the human will.
For example, as is well known, the Australian Institute of Sport runs a talent identification program (TIP) to select promising young athletes for its many sporting programs. Would it be proper—and socially acceptable—to incorporate genetic testing and information into the TIP? And if so, what weight should such information be given? Could we tell the best 16 year old athlete in Australia: “I’m sorry –you are currently winning everything in your age group; you are a lovely, ‘coachable’ kid; and you possess a great work ethic. Unfortunately, however, our tests indicate that you don’t have the genetic markers for the proteins found in the elite performers in your sport—so we ready shouldn’t waste your time or our resources.”
Our state of scientific knowledge is already such that we can identify some genetic markers which are associated with high performance in certain sports—and there are others which are associated with diseases and conditions relevant to certain sports. For example, Australian researchers have identified a protein (‘ACTN3’) which appears to produce ‘fast twitch’ muscle fibre. It is also known that the ‘ACE’ protein enhances heart function—and the combination of ACTN3 and ACE is found in 95% of world’s elite sprinters and power athletes. (Conversely, a deficiency of ACTN3 appears to aid success in the marathon and other high endurance sports.)
There is also good scientific research indicating that the protein ApoE4 is a major risk factor for degenerative brain diseases, including Alzheimer’s. Not surprisingly, there is grave concern that a person with the genetic marker for ApoE4 may be significantly predisposed to brain injury if they participate in the sport of boxing (leading to the so-called ‘punch-drunk syndrome’). The Victorian Boxing Council has floated the idea that it might require anyone seeking a professional boxing licence in that State to undergo a genetic test for ApoE4—but it has not followed up on this. The AIS also runs a boxing program. Should it require its young athletes to undergo a genetic test? What if the public liability insurer for the Victorian Boxing Council or the AIS begins to insist upon this as a condition for providing coverage? It is already the case that the AIS employs genetic screening for some athletes—notably in the basketball and volleyball programs—for Marfan’s Syndrome (which can result in a rupturing of the aorta, and sudden death).
In Essentially Yours, the inquiry recommended that the AIS establish policies and guidelines governing the use of genetic testing and information in its programs—and to its credit, the authorities at the AIS have taken this to heart and established a Reference Group to develop draft policies and guidelines to be taken to the Australian Sports Commission for formal adoption. (I am member of that Reference Group.)
An action plan for implementation
As mentioned, Essentially Yours contained 144 recommendations for reform, some of them containing multiple dot points, addressed at a wide range of actors. (For the first time, the ALRC included an ‘Implementation Schedule’ as well as a consolidated list of recommendations, in order to enable the various government agencies and other stakeholders to see clearly which particular recommendations applied to them, as well as to facilitate subsequent monitoring of the implementation effort.)
The ‘10-point Action Plan’ I am about to set out is not intended as a summary or prioritised list of the many recommendations in Essentially Yours; rather, this is an attempt to identify the major philosophical underpinnings for those recommendations.
First, all public policy developed in this area must incorporate a strong ethical dimension (the ALRC did listen to AHEC).
Second, we must place a very high premium on the dignity of the individual. Thus, Essentially Yours recommends that we should:
- take the concept of ‘informed consent’ seriously (including when it is used in the context of criminal law and procedure); and
- create a new criminal offence of submitting another person’s genetic material for testing without their consent or other lawful authority (eg statutory authority or a court order);
- take a firmly interventionist approach to the use of genetic testing and information in the employment area—we need to decide what sort of society we want: the one depicted in Brave New World or ‘GATTACA’, or one in which Australian people are free to pursue their full human potential; and · also take this seriously in the area of parentage testing, and resist the attempts of fathers’ rights groups to promote the validity of non-consensual testing of children (while recognising their grave reservations about the processes of the Family Court of Australia—particularly given the ALRC’s strong criticism of the management culture and procedures of the Family Court in the Managing Justice report).
Third, we should not accept notions of genetic essentialism or genetic determinism, or incorporate these into policy. People are worth more than the sum total of their genetic sequence. People are not ‘gene machines’.
This is easy to articulate now, but it may become increasingly hard to remember as ‘behavioural genetics’ develops—particularly in the hothouse atmosphere of law and order campaigns conducted during elections or by crusading media organisations. For example, in future, how will we calculate the legal—and moral—effects of a scientifically established predisposition to drug and alcohol use? Or a predisposition to ‘risk-taking’ behaviours? Or a predisposition to violence? Will our traditional common law emphasis on free will and mens rea preclude or diminish criminal responsibility for someone found to be acting under such a genetic predisposition? Or conversely, will we get calls for compulsory genetic testing to be associated with ‘Megan’s Law’ procedures (registration of child sexual assault offenders), to identify and deal with people predisposed to criminality, before they commit the offence, or before they re-offend (whether this means isolation, tracking or treatment).
For those interested in beginning to explore these questions further, I commend the report of the Nuffield Council on Bioethics, Genetics and Human Behaviour: the ethical context (October 2002).
Fourth, we should not develop policy and practice on the basis of genetic exceptionalism. A threshold question for the inquiry was whether we should embrace notions of ‘genetic exceptionalism’—that is (as expressed in ALRC 96):
the idea that genetic information is so fundamentally different from, and more powerful than, all other forms of personal information that it requires different and higher levels of legal protection.
The initial public policy responses to the New Genetics largely followed this approach, most clearly represented by the work of Professors Annas, Glantz and Roche of the Boston University School of Public Health, who produced the influential Model Genetic Privacy and Non-Discrimination Bill—which was introduced into the federal Parliament by Senator Stott Despoja in 1998, a first attempt to debate these issues in Australia.
In the words of Professors Annas, Glantz and Roche,
genetic information is uniquely powerful and uniquely personal, and thus merits unique privacy protection.
This approach is predicated on the basis that one’s DNA amounts to:
a coded probabilistic future diary’ [which] describes an important part of a person’s unique future.
Now that the ‘Shock of the New’ has passed, however, the inquiry firmly concluded that an ‘inclusivist’ approach was much to be preferred, in which we: (a) refrained from making artificial and unproductive distinctions between ‘genetic’ and ‘non-genetic’ information; and (b) adapted existing laws and practices to meet the special features and challenges of genetic information, rather than creating new, specialist regimes.
For example, we can build upon what we as a community have learned in recent years from dealing with the challenges of HIV-AIDS, in terms of privacy and non-discrimination/non-stigmatisation; as well as in terms of community education, pre- and post-test counselling, sound laboratory practices, and effective public health administration. Similarly, we can adapt existing privacy laws and safeguards (for example, to cover genetic samples, and to recognise the familial dimension of genetic information—see below), as well as anti-discrimination laws and watchdog bodies, rather than establish new ones expressly to cover disputes arising out of one’s real or perceived genetic status.
Dr Thomas Murray has written that this ALRC-AHEC rejection of genetic exceptionalism is:
the single most courageous and wise judgment in the report. Genetic information remains mysterious and threatening to many. Our judgment is easily skewed by its novelty and our suspicions of its occult powers, Yes, genetic information can be misused either through misunderstanding or malevolence. ALRC 96 offers cogent and thorough recommendations to guard against both’.
Fifth, what are those special features of genetic information that require some acknowledgment in practice? Genetic information:
- is ubiquitous—unlike most other forms of sensitive personal information, we are constantly leaving behind genetic material (saliva, blood etc) that can be tested and analysed;
- is very stable—as evidenced by the ability to test DNA from dinosaurs and from disasters like Bali and the World Trade Centre;
- is very personal and sensitive—but this is also true of HIV status, STDs, depression, cancer and so on;
- is uniquely individual, on the one hand—since each person’s 3.2 billion base pair genetic sequence will be different;
- has a very strong familial dimension, on the other—indeed, we share 99.9% of our genome with all other human beings, and an even high percentage than 99.9% with members of our families and communities; and
- has a powerful predictive capacity in certain circumstances, and this will only increase with our growing understanding of genetics—but, these predictions are highly complex, interactive and contingent (and so this is only enabling if used intelligently).
Sixth, good public policy in the area of genetic information will involve a careful balancing of interests—and the language of absolute ‘rights’ will not be useful, since interests inevitably will compete, conflict and collide across the whole spectrum.
One matter identified by the inquiry that I believe requires urgent public debate, and perhaps fundamental rethinking, is the powerful preference in Western societies (especially in the English-speaking world) to focus entirely on the individual, and the primacy of the doctor-patient relationship. Yet, as already mentioned, genetic information is by definition shared information—with family members, with communities, and with all other humans (to the extent of 99.9%).
The inquiry heard often from doctors and, especially, familial cancer registries that they ‘lived in dread’ of the day they would receive a telephone call from a person dying of cancer, who said: “You treated my sister, whose test showed a predisposition to a cancer that runs in families (such as BRCA1, or colon cancer, or FAP), but we are estranged and she never told me about it. However, you are a health professional and all you had to do was make one phone call and I would have sought my own medical advice—and I probably wouldn’t be in the terminal stages of cancer now.” People expressed concern about both the legal ramifications of this scenario as well as the ethical and moral dimensions.
The late Professor Dorothy Wertz of the University of Massachusetts conducted a number of fascinating cross-cultural empirical surveys, which revealed a marked divergence in approach among differing cultures. For example, in response to questions about whether it would be proper to reveal to genetic relatives the fact that a patient tested positive for Huntington’s disease (HD) or for a familial cancer mutation, health professionals in Northern Europe, Western Europe and most especially the English-speaking countries (including Australia, the United States, the United Kingdom, Canada and New Zealand) placed their focus squarely on the individual doctor-patient relationship and were reluctant to breach this confidence, whatever the consequences for other family members.
By way of contrast, health professionals in African, Asian, Latin American, Middle Eastern, Eastern European and Southern European societies were much more likely to value familial and communal interests over individual autonomy. This was echoed in a recent conversation I had with Dr Dae-Sil Lee, a leading Korean geneticist, who said that his research work strongly confirmed his Confucian beliefs and values, demonstrating the interconnectedness of life, and the central importance of tradition, family, and community. (I have heard Dr Francis Collins say similar things about how genetic science has confirmed—not challenged—his deep Christian faith.)
In a similar vein, I believe that it is important for us to have a public debate in Australia about how we wish to proceed with work on population genetics—especially in relation to the use of collected genetic material (such as neonatal blood spots cards, although known as ‘Guthrie cards’). The use of such material—in the case of Guthrie cards, virtually a complete national collection for the last 40 years, even if unsystematised—for epidemiological purposes would have beneficial society-wide effects in terms of research, planning and public health administration. But, of course, this would mean some trade-offs against privacy protection for individuals. Would that be a price we are happy to pay?
I would hope that such a national discussion also would address the preoccupation with biological parenting, at the expense of social parenting. For example, the inquiry received many submissions from ‘Dads’ groups’ which started off arguing that ‘every child needs two parents’ (a jibe at the perceived bias of the Family Court against fathers), but then moved on to urge a laissez faire approach to genetic testing—that is, the knowledge and consent of the other parties should not be required, nor should paternity testing labs be required to be accredited. In effect, the argument seems to be, do not place any impediments (even ethical ones) in the way of challenging biological parentage—even if this has potentially explosive results for existing social relationships.
And while we are on the subject, wouldn’t it be great if we could use these national debates—assuming we can get them started—to promote the genetic basis for tolerance? One of the major findings of the Human Genome Project is that there is no genetic foundation for ‘race’, which is a social construct. Genetic research increasingly appears to verify the ‘out of Africa’ theory of human origins, with the very low degree of genetic variation among humans (only 1 SNP per 1300 bases, which is much lower than other complex species) tending to confirm that we have all emerged from a small ‘starter population’.
What this means, is that every Palestinian and every Israeli; every Hindu and every Muslim in India; every Catholic and every Protestant in Northern Ireland; every Bosnian and every Serb; and every Hutu and every Tutsi in Rwanda, is 99.9% genetically identical. What a tragedy that the ‘genius’ of the human race seem always to be able to find the murderous potential in that 0.1%.
Seventh, we need to develop flexible approaches that can respond to the rapid changes in science and technology, and a broad mix of regulatory strategies tailored to the needs and circumstances of each context—not ‘one size fits all’ solutions, or ‘Big Law’. The strategies useful for ensuring more effective oversight of medical research are not necessarily the same as those which work in overseeing the work of law enforcement officials, or ensuring best practice in testing laboratories,
Thus, as mentioned, the inquiry pushed for strong intervention in the employment context, to avoid the creation of a ‘genetic underclass’ in Australia of people fit and willing to work, but with some predisposition that employers may use to rule them out. However, in the area of risk-rated, private insurance (eg life insurance and critical illness insurance, but not private health insurance, which is ‘community rated’), the inquiry did not favour government intervention, preferring instead to call on the industry to provide more effective regulation, more adherence to scientific and medical advances (and their actuarial implications), more transparency and more responsiveness to legitimate consumer interests.
Eighth, we have a clear need for much more community and professional education about how to deal with the New Genetics. There are some sobering surveys available for those who may doubt this need. For example, a Eurobarometer survey conducted in EU countries in March 2003 put the following proposition: ‘ordinary tomatoes do not contain genes, while genetically modified tomatoes do’. 60% of respondents agreed with this. (Perhaps they are from the ‘Old Europe’).
The inquiry also heard consistent complaints from members of the affected community (patients, genetic support groups, etc) about doctors’ lack of knowledge of genetics—and this included not only GPs but also (or perhaps especially) leading specialists (in fields other than medical genetics).
In surveying the literature about how to communicate risk to patients, I was fascinated by the many published studies of how members of the community understand and apply concepts of risk and probability. The short answer is, they don’t—even the well educated do very poorly, yet this is essential for coming to grips with the predictive power of genetics. Some of this literature emerges from the health and medical context, while some of it comes from researchers in logic and mathematics—however, the conclusions are mutually reinforcing insofar as most people are unable to distinguish between good risks and bad risks in the surgery or at the casino.
This points very strongly to the need for increasing the availability of qualified genetic counsellors in Australia. I have said on a number of occasions that if a ‘hero’ emerged in the course of this inquiry, it would have to be the genetic counsellor. We heard story after story, from individuals and families, about learning through a diagnosis, test or family history that were affected by a genetic disorder. In the initial stages, this rarely involved much accompanying information, since so many doctors do not possess the necessary level of knowledge about clinical genetics, or do not have the communications skills to explain to lay people concepts like penetrance, predisposition, and probability.
So, in the normal way of the modern world, people go home, type the name of the condition into ‘Google’—and then scare themselves witless. It is only after they have been able to meet with a genetic counsellor that affected individuals and their families get some real sense of their position, their prospects and options. Often they are put in touch with genetic support groups, which also play an extremely important role—providing support, information, practical advice, advocacy services and a sense of community. In the case of rare genetic conditions, virtual communities emerge and engage through the internet. The inquiry was told very often about how reassuring it was for affected people to meet others who are experiencing the same feelings and dealing with the same issues.
Apart from those people dealing with serious genetic health issues, it will be necessary to empower health consumers more generally, since ‘lifestyle’ genetic tests and products are already beginning to be marketed—and this will only increase. For example, the UK company Sciona directly markets a ‘do-it-yourself’ genetic testing kit for ₤120, which includes a buccal swab used to collect cheek cells and then to be posted to the laboratory for analysis. The test, sold as ‘You and Your Genes’, is said to look for particular SNPs on nine genes that may have some health consequences. Much of the marketing is now being conducted via the internet—the Body Shop stores initially carried the product, but apparently no longer do, and a number of major pharmacy chains have rejected it.
The CEO of Sciona has defended the direct marketing of these tests in the following terms:
There is already a lot of information out there recommending, for instance a diet high in fruit, broccoli and grains and low in char-grilled red meat, smoked and preserved foods and alcohol. Consumers find this advice daunting, as they are not sure to what extent it pertains to them as individuals.
In my own view, it strains credibility to suggest that people who have difficulty processing simple health messages like ‘eat more salads’ and ‘avoid fatty foods’ will benefit significantly from the highly complex and contingent information that would be derived from analysis of their DNA. This trade is probably not of sufficient importance or harm as to necessitate heavy-handed regulation—such ‘curiosity’ testing simply may be the Genetic Age’s equivalent of ‘mood rings’, requiring only some public education that instils a healthy sense of ‘buyer beware’.
Ultimately, I am optimistic that it is possible to mount an effective, comprehensive, public education campaign about the New Genetics. As a career academic, I have a strong stake in maintaining the belief that people are educable. And my personal experience over the past two years also suggests that the public will be engaged by developments in genetic science and technology, and that there are interesting ways of disseminating this information widely.
When I visited the United Nations in August to speak to Pacific Islands Ambassadors, UN officials told me that the most ‘clued-in’ country in the world about these issues is Brazil. Why? Apparently, the highest rating show on Brazilian TV is a prime time soapie called ‘El Clon’ (‘The Clone’)–and this has prompted a national debate about the ethical and social implications of the New Genetics. (I have suggested to Carla Zampatti, Chair of the Board of SBS-TV, that the broadcaster try to buy this series for Australia.)
Ninth, we need to start planning now for the imminent time when ‘all medicine will be genetic medicine’? The advances in gene chip technology and bio-informatics will lead to a rapid expansion in the number and scope of genetic tests available and a substantial decrease in unit cost—which in turn will dramatically increase the pressure for access to and use of genetic tests (and not only in the medical/health context). To provide an example of the sort of advances that are being made in this regard, the Australian media recently reported the story of a University of New South Wales PhD student’s success in making correlations among 15,000 mouse genes. This took the ‘Barossa’ supercomputer 32 hours; a standard desktop computer would take 5700 years to complete the same calculations.
A recent Canadian Government report estimated that ‘60% of all Canadians will experience a disease with some form of genetic component during their lifetime’. If you factor in family, friends, employers and so on, we are already talking about an impact of close to 100%—and there is no reason to think that Australia is any different in this respect. At present, only three genetic tests are listed on the Medical Benefits Schedule, but in only five years or so, we have the reality of the ‘$1000 genome’—that is, most Australians will be able to afford to have their genome fully sequenced and recorded on a CD.
If we wish to take full advantage of this science and technology, it is critical that our health systems immediately begin strategic planning to: address cost issues and training needs; prepare family doctors to be the key ‘gatekeepers’ for genetic testing; develop an integrated genetics education program running through from university medical schools to the Royal Colleges and other institutions; provide (much) more resources for genetic counseling and genetic support groups; and manage more effectively the protection and use of genetic databases.
Tenth, all of these initiatives need to be pulled together by a Human Genetics Commission of Australia (HGCA), as recommended in Essentially Yours —and as already exists in the United Kingdom, and less formally in Canada (the Ontario Genetics Advisory Committee) and the United States (the Secretary’s Advisory Committee on Genetics, Health and Society). The HGCA is envisaged as a broad-based body capable of providing cutting edge advice to governments, industry and the general community about the scientific and technological advances in human genetics (including those ‘over the horizon’) as well as about the ethical, legal and social implication of these advances.
The HGCA also would have important roles to play in coordinating community and professional education at the national level; setting standards for insurers and employers about the permissible uses of genetic tests and information; advising regulators (such as the Therapeutic Goods Administration) on best practice standards; monitor international developments; and liaising with other relevant bodies, such as the NHMRC, the TGA, the Office of the Gene Technology Regulator (OGTR, which handles plant and animal genetics); and the Australian Health Ministers Advisory Committee (AHMAC, which comprises the federal, state and territory health ministers), to help ensure that Australia maintains clear, consistent and high national standards in this area.
It may well be human nature—and perhaps it is even genetic—to leave everything to the last minute and to react to emerging events rather than to plan ahead. However, good management requires that we anticipate and prevent problems—and we currently have an excellent opportunity to make policy based on sound principle, rather than on crisis management.
The area of genetic research, testing and information is so sensitive that it is critical we get this right—and do so now—to avoid the crisis of confidence and the public backlash that inevitably would follow from poor or unethical practices, as it has elsewhere.
What we proposing is not radical. In 1997, the then Governor of Texas, George W. Bush, praised and signed into law a bill prohibiting genetic discrimination in the workplace and in group health insurance plans—this, in the spiritual epicentre of the free market. President Bush now supports a similar law that recently passed through the US Senate with all-party support.
These initiatives are broadly similar to what we have recommended for Australia (although our comprehensive public healthcare system and community-rated private health insurance mean that the landscape is different). However, I believe that the reforms recommended in Essentially Yours:
- are much more comprehensive;
- are more finely-tuned; and
- extend well beyond legislation, to involve many more stakeholders than government(s).
Thus, we also have a real opportunity now in Australia to be an international pacesetter in the protection and intelligent use of human genetic information. Essentially Yours has attracted significant interest overseas, and the report will be studied by governments and policymakers around the world—starting, we hope, at home.