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Human Genetic Research Databases: Issues of Privacy and Security
OECD Workshop, Tokyo (26-27 February 2004)

Workshop Session 5: HGRD Governance

Overview of comments
Professor David Weisbrot

1. Introduction

In February 2001, the Australian Government established a major, two-year inquiry into the Protection of Human Genetic Information, conducted jointly by the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council (NHMRC). The inquiry culminated in the launch of the report Essentially Yours: The Protection of Human Genetic Information in Australia [1] 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 inquiry directed the ALRC and AHEC to consider, with respect to human genetic information and the samples from which such information is derived, how best to:

The inquiry then considered those central matters across a wide array of actual and potential contexts, including:

From the beginning, the inquiry recognised the need for public engagement and widespread consultation, involving the general community as well as experts and interest groups. To this end, an Issues Paper [2] and a Discussion Paper [3] were produced to promote public education and debate; 15 public forums were held in the capital cities and major regional centres; over 200 'targeted' meetings were conducted with key stakeholders and community organisations in Australia and overseas; and more than 300 written submissions were received.

These factors account for the 'super-sized', two-volume, 1,200 page final report, with its 144 recommendations for reform aimed at 31 different organisations, including: federal, state and territory governments; health and medical policymakers (such as the NHMRC); privacy offices; regulatory authorities (such as the Therapeutic Goods Administration); insurers; employers; medical practitioners; universities and continuing professional education providers, and others.

It has been immensely gratifying that the report has been gaining great amounts of attention (and praise) internationally. During the past 12 months I have been involved in detailed discussions about the report with leading government and non-government policymakers from the United States, Canada, the United Kingdom, New Zealand, China, Korea, Japan, Pacific Islands Ambassadors to the United Nations—and now the OECD.

2. Ethical Oversight of Research involving HGRDs

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), [4] having been developed by AHEC after substantial public consultation. It was subsequently endorsed by all of the major stakeholders, including the Australian Vice-Chancellors' Committee, the Australian Research Council, the Australian Academy of the Humanities, the Australian Academy of Science, and the Academy of the Social Sciences in Australia.

Briefly, the National Statement:

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'. [5]

Responding to criticisms about the perceived lack of independence of the predecesesor mechanism (institutional ethics committees), HRECs now comprise a chair; two laypersons; a member 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 is now external to the institution.

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 strenghts and weaknesses. There are about 200 HRECs in Australia, as compared with 14 in Germany, and there is a flat structure—unlike Japan, say—there is no central body that reviews approvals or hears appeals from refusals.

On the positive side, it is a low cost, largely voluntary, flexible system, which can tap local expertise and knowledge of the institution. (Low cost is a particular virtue in a system which generally does not allocate research funds for compliance with regulatory requirements.) There is 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:

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 an accreditation system for HRECs.

The inquiry also noted that a 'loophole' exists insofar as compliance with the National Statement is only compulsory for 'public' research—with no equivalent requirement for 'purely private' research. However, as a matter of practice, virtually all human genetic research in Australia is either publicly funded or carried out at least partially in public institutions (universities, public hospitals etc), so there is little or no non-compliance. 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.

In addition to the role of the NHMRC, HRECs and the National Statement, the ethical and legal framework for conducting research in Australia includes the following:

3. Human Genetic Research Databases in Australia

Australia does not have—nor are there any imminent plans to construct—a comprehensive Human Genetic Research Database (HGRD), [9] such as is found in Iceland (DeCODE), Estonia, the United Kingdom (BioBank) and Quebec (Cartagene).

However, the inquiry recognised the existence of a large number of unsystematised HGRDs in Australia, maintained by: researchers in universities and in biotechnology companies; public and private hospitals (eg tissue banks, blood banks, pathology samples, paraffin blocks); pathology labs; and familial cancer registers.

Increasingly, researchers are compiling collections of genetic samples and related genetic and other health information to aid studies into the causes of disease, drug reactions and environmental interaction with genetic status.

Genetic databases are now helping elucidate gene function, estimate the prevalence of genes in populations, differentiate among subtypes of diseases, trace how genes may predispose to or protect against illnesses, and improve medical intervention. [10]

HGRDs will gain added 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. To provide an example of the sort of advances that are being made in this area, 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 a supercomputer (shared by a number of universities) 32 hours; a standard desktop computer would take 5,700 years to complete the same calculations. [11]

Most 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. [12] 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. [13]

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. [14]

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 with varying degrees of care in children's hospitals around the country—representing a complete, if unorganised, DNA collection for virtually everyone born in Australia in the past 45 years.

The recently revised Australian National Pathology Advisory Committee Guidelines now recommend retention of the cards for 25 years (previously 50 years). Guthrie cards are regarded as 'health records', and thus issues relating to storage, access and disclosure are generally governed by privacy legislation (and health privacy laws, where such exist). However, the inquiry noted that there is lack of legal clarity with respect to the status of the blood sample once it is removed from the card. The blood/DNA no longer constitutes a 'health record', and use is no longer governed by the Human Tissue Acts or any other current laws.

4. Legislation and Regulation of HGRDs in Australia

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:

The inquiry concluded that further regulation is required to protect the privacy of genetic samples and information held in human genetic research databases; however, such reform should be in keeping with the present framework for the ethical oversight research, rather than through the introduction of new, dedicated legislative constraints on the operation of research databases.

Thus, Essentially Yours recommends that the NHMRC further develop its National Statement to provide express ethical guidance on the establishment, governance and operation of human genetic databases—and in particular to offer ethical and practical guidance on obtaining consent to unspecified future research.

Registration of HGRDs

As part of these changes to the National Statement, it was 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 [18] 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, there will be comprehensive information 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 the 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 research databases.

The Inquiry also recommended that the National Statement include guidance on the use of 'gene ombudsman' or 'gene trustee' mechanisms, where appropriate, and other strategies 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).

Privacy protections for genetic samples and information

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 invaluable research resources for studies into the genetic causes of disease. Genetic testing of stored tissue samples also has potential uses in other contexts, including criminal or police investigations, as evidence in court proceedings and for parentage or other kinship testing.

These secondary uses raise important issues of ethics, privacy and consent. The inquiry also recommended that the Australian Health Ministers' Advisory Council (AHMAC) [19] 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 upon 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 a Human Research Ethics Committee (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 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). [20] 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. [21]

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 (see below, regarding the global dimension).

5. 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:

In addition, guidance could be provided on a range of other matters relating to the operation of human genetic research databases including:

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).

6. The global dimension

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 John Le Carre needed a new entity to replace the fallen Soviet Union as the 'Evil Empire' in his novel The Constant Gardener, published in 2001, 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 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'!

As mentioned above, one key recommendation of the inquiry was to extend privacy laws to cover identifiable genetic samples. If this were to be implemented, 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 of the samples is adequately protected by the recipient in the overseas jurisdiction. [23]

7. Other issues

The Background Paper mentions, as a key issue for discussion at the Tokyo Workshop, 'socio-cultural values and universality of ethical principles'.

The Human Genetic Project confirmed the very strong familial dimension of 'personal' genetic information—we share 99.9% of our genome 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 focusing on the individual, and 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: '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 wouldn't be in the terminal stages of cancer now'. 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 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.

In a similar vein, I believe that it is important that we have a 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. But, of course, this would mean some trade-offs against privacy protection for individuals. Would that be a price we are happy to pay?

Confidentiality has been a traditional cornerstone of the doctor-patient relationship, and should not be departed from lightly. Nevertheless, the inquiry went out on a limb to recommend that there may be exceptional 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' (using 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.

Finally, 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'. 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.


[4] 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.

[5] Preamble to the National Statement.

[6] NHMRC, Guidelines Under Section 95 of the Privacy Act 1988 (2000); and NHMRC, Guidelines Approved Under Section 95A of the Privacy Act 1988 (2001).

[7] NHMRC and Australian Vice Chancellors' Committee, Statement and Guidelines on Research Practice (1997).

[8] NHMRC, Guidelines for Ethical Review of Research Proposals for Human Somatic Cell Gene Therapy and Related Therapies (1999).

[9] I am not dealing in this paper 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 is covered in detail in Essentially Yours, Part J, chapters 39-45.

[10] W Lowrance, 'The Promise of Human Genetic Databases' (2001) 322 British Medical Journal 1009.

[11] Kate Mackenzie, '5700-year gene puzzle cracked', The Australian, 25 November 2003, 29.

[12] The Centre is affiliated with the University of Tasmania; see its homepage at <www.menzies.utas.edu.au/>.

[13] Submission of the Peter MacCallum Cancer Institute to the inquiry, Submission G071, 7 January 2002.

[14] 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.

[15]   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).

[16] National Health and Medical Research Council, National Statement on Ethical Conduct in Research Involving Humans (1999), NHMRC, Canberra.

[17] Human Genetics Society of Australasia, Guidelines for Human DNA Banking, Guidelines, 1 July 1990.

[18] 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.

[19] Which comprises representatives from all federal, state, territory and New Zealand health ministries.

[20]  This template legislation is based on the recommendations of the ALRC in Human Tissue Transplants (ALRC 7, 1977).

[21]  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.

[22] Cf NHMRC, Guidelines for Genetic Registers and Associated Genetic Material (2000) 2.1(e).

[23] See, for example, Privacy Act 1988 (Cth) National Privacy Principles, NPP 9.

This page was posted 26 February 2004

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