Policy Transparency, Genetic Counselling and the Required Legal Infrastructure

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.

Synopsis

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.

1. Introduction

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^{[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 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;
• employment;
• sport;
• immigration;
• 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.^{[2] 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’.^[3]

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^{[4] and a Discussion Paper[5] 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.^[6]

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.^[7]

The successor to the Human Genome Project, the International Haplotype Mapping (‘HapMap’) Project,^{[8] 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.[9]}

Australia does not currently have—nor are there imminent plans to construct—a population-wide or comprehensive HGRD^{[10] 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.^[11]

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.^[12]

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.^{[13]  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.^[14]

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.^{[15] 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.[16]}

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.^[17]

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’)^{[18]—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.^[19]

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’.^[20]

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);^[21]
• 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;^{[22] and}
• NHMRC guidelines applying to specific types of research, such as gene therapy.^[23]

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; ^[24]
• 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^{[25] 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;^[26]
• guidelines made in accordance with the Privacy Act;[^27]
• 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)^{[28] 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).^[29]

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.^[30]

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.^[31]

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.^[32]

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.^{[33] 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. Non-discrimination

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.^[34]

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.^[35]

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^{[36] should be amended to make clear that they expressly apply to discrimination based on genetic status.[37]}

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).^[38]

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).^[39]

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.[^40]

This situation points very strongly to the need for increasing the availability of qualified genetic counsellors in Australia.^{[41] 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’.^{[42] 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.}

11. Commercialisation

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.^[43]

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’.^{[44] 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.^[45]

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.^[46]

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.^[47]

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.^{[48] The HREC may decide that no such disclosure is justified. (The disclosure requirements in relation to clinical trials are somewhat more rigorous.)[49]}

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’.^{[50] 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.^[51]

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.^[52]

12. Security

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’.^[53]

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’.^[54]

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.

14. Conclusions

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).^[55]

Contrary to the situation in Europe,^{[56] 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’.[57]}

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.