The new genetics: is it mad science or modern miracles? (help us figure it out)

It is a rare day when the news media fails to contain some coverage of an exciting development or a worrying controversy (or both) arising out of genetic research and technology.

On the one hand, there is strong public support for breakthroughs promising better medical diagnosis and treatments, and for assisting with law enforcement (including identification of missing persons); on the other, there is some general fear about uncontrolled or ‘mad science’.

The Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) are conducting a groundbreaking inquiry, which aims to find a balance between encouraging advances in genetic science and technology, and protecting the public from loss of privacy and unfair genetic discrimination.

As part of this inquiry, the two agencies have released a community consultation paper, Protection of Human Genetic Information. The Issues Paper outlines a range of potential concerns about the use of human genetic information in areas such as medical research and practice; tissue banks and genetic databases; health administration; employment; insurance and superannuation; access to services and entitlements; law enforcement and evidence in court.

Is genetic information special?

For many years, doctors, employers, insurers and others have requested information about family medical information — much of which amounts to genetic information — to provide advice or make assessments about the future health of an individual.

Medical information already receives special treatment with regard to privacy laws and policies. One of the key issues for the inquiry is whether genetic information is so fundamentally different from other forms of health information that it requires a separate or special regime to regulate its collection, use and disclosure.

Some of the characteristics that may differentiate genetic information from other forms of health information include:

The science relating to genetic information is new and developing, increasing the possibility that genetic information may be inaccurate or subject to misinterpretation. Individuals may not always be able to be advised about the long–term implications of this information.

While each person’s genetic information is unique, it also can reveal information about — and therefore have implications for — that person’s parents, children, siblings and other relatives (and perhaps even people outside the family who are part of a common descent group, such as members of an ethnic group). Similarly, genetic information is capable of revealing ‘family secrets’, including information about paternity (or non-paternity), adoption, or the use of assisted reproductive technology.

The predictive nature of some genetic information means that disclosure may lead to unfair discrimination or other negative consequences for the individuals to whom it relates.

Every cell in a person’s body, with the exception of sex cells, contains all of his or her genetic code. Therefore, the testing of any biological sample can reveal the full complement of a person’s genetic information. There is potential for stored genetic samples to be re-tested as new tests are developed.

However, there also are strong arguments that genetic information is not fundamentally different from other sorts of medical information and does not merit special treatment. On this view, genetic information is neither distinctive nor unique in its ability to predict an individual’s future health, but indicates only a rough range of probabilities. Information about family history, lifestyle and environment (smoker or non-smoker, skydiver or race car driver, miner or office worker) and non-genetic test results (eg for high blood pressure, diabetes and cholesterol) also provide important clues to current and future health.

Similarly, other non-genetic test results will contain very sensitive information, with the potential for causing distress, discrimination and stigma (such as a positive result for HIV-AIDS, tuberculosis, Hepatitis-B, or a sexually transmitted disease).

An individual’s need for health care will depend on a complex mix of factors — both genetic and non-genetic — and most diseases and risks do not fall neatly into either category. Consequently, it may be making an artificial distinction to afford special treatment to genetic information in all cases, as opposed to other forms of health and medical information.

Challenges for the inquiry

The major challenge for this inquiry is to strike a sensible and effective balance which recognises the need to foster innovations in genetic research, technology and practice that serve humanitarian ends, while at the same time providing sufficient reassurance to the community that such innovations are subject to proper ethical scrutiny and legal control.

Although relatively easy to articulate, achieving that balance may be difficult in practice, since various interests will compete and clash across the spectrum of activity. For example, consider the following:

Genetic researchers

need ready access to a pool of genetic samples and research participants to assist in experimentation aimed at making important medical discoveries. However, the people whose samples, information or participation is required may have concerns about their ability to exercise informed consent or about the privacy of their genetic information. Potential volunteers may fear that participation in medical research experiments or screening programs will generate information that they subsequently may be required to disclose to insurers, employers or others.

Employers

must fulfil common law and statutory duties to provide a healthy and safe work environment for all employees. They also have an obvious interest in productivity, and in reducing insurance premiums and legal liability. However, employees or job applicants may fear discrimination if they are found to have a genetic disorder, or a genetic susceptibility to a disease triggered by specific environmental factors or substances that may be present in the workplace.

Doctors and hospital authorities

often must make very difficult decisions about diagnostic testing, therapeutic options and the allocation of scarce resources, and might be aided in this respect by access to genetic information. However, individual patients have legitimate concerns about privacy and the right to consent (or not) to genetic testing and to the use and disclosure of any genetic tests results.

Insurers

underwrite many forms of insurance policies by assessing the level of risk each person brings to the pool and may wish to use genetic test information for this purpose (in the same way that they currently use other health information, including family history). However, insurance applicants may be concerned that they will be denied insurance or offered a policy with loadings or exclusions on the basis of genetic information.

The Issues Paper also considers the range of areas outside of employment and insurance in which genetic information might be used to determine eligibility for, or the provision of, goods, services or entitlements. For example, should genetic information be used to determine eligibility for certain social security and training programs? Or used by hospitals to determine the allocation of scarce resources? Or used as part of immigration screening for proof of a family relationship, or the good health of an intending immigrant? Or used to prove Aboriginal or Torres Strait Islander identity? Or used by school or nursing home authorities as a factor in determining admissions? Or used by sporting bodies to determine whether a person is fit to participate?

Also under consideration are issues of principle and practice in relation to the collection, storage and use of genetic information by law enforcement authorities, including in relation to the development of the National Criminal Investigation DNA Database (NCIDD) operated by the executive agency CrimTrac. The Issues Paper also asks a range of questions relating to the presentation and admissibility of DNA evidence in court, both in criminal matters as well as in civil proceedings (such as in relation to establishing paternity in a Family Court matter or determining the award of damages in a personal injury suit).

The course of the inquiry

The release of the Issues Paper signals the commencement of an intensive round of national consultations. These consultations will include open public hearings so that members of the Australian community may make submissions to the inquiry, as well as meetings with particular interest groups, industry representatives, and experts in all relevant fields.

The feedback received from submissions and consultations will then be incorporated into a Discussion Paper, which will contain an indication of the inquiry’s thinking in the form of specific reform options, to which the community can respond.

The final report will be presented to the federal government in 2002.