Executive Summary

Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96, 2003) represents the culmination of a major, two-year inquiry by the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council (NHMRC). The Report, which contains 144 recommendations for reform, is the product of an extensive research and community consultation effort—the most comprehensive consideration of the ethical, legal and social implications of the ‘New Genetics’ ever undertaken.

The Terms of Reference 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:

• protect privacy;
• protect against unfair discrimination; and
• ensure the highest ethical standards in research and practice.

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, the Inquiry released an Issues Paper (IP 26, October 2001) and a Discussion Paper (DP 66, August 2002) to promote public education and debate, conducted 15 open forums around Australia, initiated over 200 meetings with interested parties in Australia and overseas, and received over 300 written submissions.

The ‘New Genetics’ is remarkable for the speed of scientific and technological development. In 50 years, we have moved from the first published description of the DNA double helix by Watson and Crick, to the effective mapping of the entire human genome by the Human Genome Project consortium.

The experience of the Inquiry, mirrored overseas, is that the rapid pace of change has produced two powerful, but conflicting, social reactions. On the one hand, there is very strong public support for breakthroughs promising better medical diagnosis and treatments, and for assisting with law enforcement (including identification of missing or deceased persons); on the other, there are anxieties about increased loss of privacy and the potential for genetic discrimination, as well as about the capacity to regulate genetic science in the public interest.

The major challenge for the Inquiry was to find a sensible path that meets 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.

The current methods of regulation and conflict resolution 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; private interest; and market pressures.

The Inquiry’s brief was to scrutinise the existing regimes, and then tailor them—if necessary and to the extent possible—to the particular needs and demands of genetic testing and information. In some instances, the Inquiry has 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 that where such information may be used lawfully, it will be used properly, fairly and intelligently.

Achieving justice in this complex area is not susceptible to a simple vindication of individual rights. Careful consideration of the legal and policy issues thrown up by the use of genetic samples and information requires a wide range of interests to be balanced. Although relatively easy to articulate in the abstract, achieving the proper balance is difficult in practice, since various interests will compete and clash across the spectrum of activity.

For example, as discussed throughout this Report, human genetic information has a strong familial dimension—an individual’s genetic information will usually reveal information about, and have implications for, his or her parents, grandparents, siblings, children, and generations to come. Thus, there may be circumstances in which an individual’s presumptive right to privacy, and to the confidentiality of the doctor-patient relationship, may be called into question by the competing needs of genetic relatives.

Similarly, a balance must be struck in a number of other areas in such a way as to recognise and accommodate broad social interests rather than individual ones—such as in the compulsory acquisition of DNA samples by law enforcement authorities; the ability of researchers to gain a waiver of individual consent requirements; the imposition of restrictions on employers from requiring genetic testing and information from their employees; or in limiting the ability of a person to initiate parentage testing without the knowledge and consent of the child and the other parent.

In an earlier era, the typical centrepiece of any significant law reform effort was the recommendation of a major new piece of legislation. However, in a more complex environment in which authority is much more diffused, modern law reform efforts are likely to involve a mix of strategies and approaches, including legislation and regulations; official standards and codes of practice (such as those promulgated by the NHMRC and the federal Privacy Commissioner); industry codes and best practice standards; education and training programs; better coordination of governmental and intergovernmental programs; and so on. The recommendations contained in this Report are addressed to a wide range of parties and not merely to the Commonwealth Government. For this reason, the Report contains an ‘Implementation Schedule’, making clear the lines of responsibility for implementation of the various recommendations.

The Inquiry’s key recommendations include the following

• A standing Human Genetics Commission of Australia (HGCA) should be established to provide high-level, technical and strategic advice to Australian governments, industry and the community about current and emerging issues in human genetics, as well as providing a consultative mechanism for the development of policy statements and national guidelines in this area.
• Discrimination laws should be amended to clearly prohibit unlawful discrimination based on a person’s real or perceived genetic status.
• Privacy laws should be harmonised and tailored to address the particular challenges of human genetic information. Among other things, this will require extending privacy protection to genetic samples as well as genetic information. However, the familial dimension of genetic information also requires acknowledgment—for example, doctors should be authorised to disclose personal genetic information to a genetic relative in circumstances where disclosure is necessary to lessen or prevent a serious threat to an individual’s life, health, or safety.
• A new criminal offence should be created to prohibit an individual or a corporation from submitting another person’s sample for genetic testing, or conducting such testing, knowing (or recklessly indifferent to the fact) that this is done without the consent of the person concerned or other lawful authority.
• Ethical oversight of genetic research should be strengthened by: ensuring that all genetic research complies with NHMRC standards; better supporting Human Research Ethics Committees (HRECs); providing more guidance to researchers and research participants about best practice; developing new rules to govern the operation of human genetic research databases; and tightening reporting requirements.
• An ethical dimension should be added to the accreditation standards of the National Association of Testing Authorities, Australia (NATA), and only accredited laboratories should be permitted to conduct genetic testing for health and medical purposes. The Therapeutic Goods Administration (TGA) should be empowered to regulate genetic testing devices that may be provided directly to the public.
• As a matter of priority, Australian governments should develop strategies designed to assess and respond to the need for increased and adequately resourced genetic counselling services.
• Employers should not gather and use genetic information except in rare circumstances, for example, where this is necessary to protect the health and safety of workers or third parties, and the action complies with stringent standards developed by the HGCA and the National Occupational Health and Safety Commission (NOHSC).
• A range of safeguards and improved policies and practices should be applied to the insurance industry’s use of genetic information (including family history) for underwriting purposes. This will be aimed at ensuring that: genetic information must be used in a scientifically reliable and actuarially sound manner, in accordance with HGCA recommendations; reasons must be provided for unfavourable underwriting decisions; industry complaints handling processes are improved and extended to cover review of underwriting decisions based on genetic information; and industry education and training in this area will be significantly enhanced.
• DNA parentage testing should be conducted only with the consent of each person sampled, or pursuant to a court order. In the case of a child who is unable to make an informed decision, testing should go ahead only with the consent of both parents, or pursuant to a court order. In those cases in which agreement cannot be reached—for example, because a mature child or a person with parental responsibility withholds consent or is unavailable—a court may authorise testing, after taking the child’s interests into account. In order to ensure high ethical standards and technical competence, DNA parentage testing should be conducted only by NATA-accredited laboratories, operating in accordance with the specific accreditation standards in this area. Information about the availability of genetic counselling should be provided to the parties.
• In order to facilitate an effective national approach to sharing DNA information for law enforcement purposes, Australian governments should develop national minimum standards with respect to the collection, use, storage, destruction and index matching of forensic material (and the DNA profiles created from such material). No inter-jurisdictional sharing of information should be permitted except in accordance with these national minimum standards.