Inquiry’s views

24.77 The Inquiry has concluded that it is desirable to have national standards for the development and implementation of population genetic screening programs and newborn screening programs.

24.78 Public acceptance is integral to the success of population genetic screening programs. National standards would improve public awareness of, and confidence in, genetic screening programs. They would also promote a consistent approach to the provision of counselling and educational programs for participants.

24.79 Access to genetic screening programs is currently subject to financial and resource constraints. By creating a focus for the development of screening programs, national standards for genetic screening programs might encourage the introduction of programs on an Australia-wide basis, addressing inequities in access.[86]

24.80 Cost-benefit considerations have a significant impact on the introduction of population genetic screening programs. In some cases, such as in relation to the HaemScreen program, there is considerable professional debate about costs and benefits. Creating a national benchmark for determining whether a screening program should be established would help to address divergences of opinion on the efficacy of screening. National standards for assessing the costs and benefits of screening programs could also encourage the most effective use of limited health care resources, a goal to which a range of ethical considerations are relevant.[87]

24.81 National standards can also promote comprehensive, standardised reporting and data collection on the incidence and prevalence of disorders and the impact of screening.[88] This would facilitate public health planning and the evaluation and improvement of screening programs.

24.82 The desirability of a national approach to screening programs has been recognised previously. In 1996, in recommending that the National Public Health Partnership clearly delineate areas for which there should be national responsibility for action, the NHMRC suggested that these areas include clinical guidelines with particular reference to population screening.[89] The Inquiry understands that the National Public Health Partnership Public Health Genetics Working Group has offered to draw up national newborn screening guidelines for the Australian Health Ministers’ Advisory Council but has not yet been asked to do so.[90]

24.83 In the Inquiry’s opinion, AHMAC is the most appropriate body to initiate the development of national standards for population genetic screening programs. This task fits within its function of advising on national health issues. AHMAC has also laid the foundations for these standards through the National Public Health Partnership’s review of screening programs in Australia, and could draw on the experience and knowledge gained through this work. The NHMRC and the HGCA should have input into the development of these standards, to provide advice on the ethical and research aspects of screening, and on technical matters. Other key professional bodies, such as the HGSA, should also have input where appropriate.

24.84 New standards should take account of Australian and international best practice and existing Australian and international statements and guidelines, including those developed in the United Kingdom by the NSC. Population genetic screening standards should cover such matters as informed consent, counselling, testing standards (including quality assurance) and cost-benefit considerations. At a minimum, national standards should require for all population screening programs that:

    • consent to screening is voluntary;

    • consent to screening is informed about the purpose of the screening, the meaning of test results, and the factors that individuals should consider in deciding whether or not to participate;

    • appropriate counselling mechanisms are in place;

    • any available treatments are offered without delay;

    • screening tests meet minimum standards of reliability and penetrance;

    • quality assurance and auditing mechanisms are in place; and

    • each screening program has a designated person who is responsible for ensuring that standards are met; and

    • there is an acceptable balance between the costs of the program and its likely individual and community benefits.

24.85 Concerns have been expressed that obtaining more explicit consent to newborn screening tests may have the unwanted effect of decreasing participation in screening programs.[91] However, there are ways to address this issue: appropriate standards for population screening programs can promote universal participation as well as informed decision making. For example, one response could be to introduce a ‘two-stage’ consent process. Informed consent could first be sought well before delivery, for example at the time the hospital booking is made or when antenatal classes are taken. A confirmation of this decision could be sought after the birth when the heel-prick procedure would usually be performed. At that time, the newborn’s parents could be given any additional information they require and provided with the opportunity to confirm or revise their earlier decision.

24.86 The OFPC suggested that a form of ‘third party gene broker’, similar to the ‘gene trustee’ system described in Chapter 18, could be a solution to privacy problems posed by some population genetic screening programs.[92] This system could be appropriate for some screening programs, particularly those that are relatively discrete in scope, by ensuring the privacy and anonymity of participants. A requirement for proponents of population genetic screening programs to consider the use of a gene trustee system could be included in national standards for population genetic screening.

Recommendation 24–1 The Australian Health Ministers’ Advisory Council, in cooperation with the National Health and Medical Research Council, the Human Genetics Commission of Australia and key professional bodies, should develop national standards in relation to the development and implementation of:

  1. population genetic screening programs—covering such matters as informed consent, counselling, testing standards, quality assurance, cost-benefit considerations, and reporting and data collection; and
  2. newborn screening programs—promoting both universal participation and informed decision making by parents.

[86] The National Public Health Partnership Genetics Working Group stated that a national approach ‘would ensure the capacity for a considered policy analysis to decide if screening is appropriate, and if so, ensure equity of accessibility across jurisdictions’: National Public Health Partnership, An Overview of Public Health Surveillance of Genetic Disorders and Mapping of Current Genetic Screening Services in Australia (2002), National Public Health Partnership, Canberra, 36.

[87] See National Health and Medical Research Council, Ethical Considerations Relating to Health Resource Allocation Decisions (1993), NHMRC, Canberra.

[88] The National Public Health Partnership Genetics Working Group reported that data from newborn screening programs are not recorded or analysed in any systematic way: National Public Health Partnership, An Overview of Public Health Surveillance of Genetic Disorders and Mapping of Current Genetic Screening Services in Australia (2002), National Public Health Partnership, Canberra, 31. In the United Kingdom, the Nuffield Institute for Health has identified the lack of standardised data as a barrier to improving population screening programs: Nuffield Institute for Health, Quality Management for Screening: Report to the National Screening Committee (2000), University of Leeds, Leeds, 50. See also D Taylor, ‘Quality and professionalism in health care: a review of current initiatives in the NHS’ (1996) 312 British Medical Journal 326, 626–629.

[89] National Health and Medical Research Council, Promoting the Health of Australians: A Review of Infrastructure Support for Health Advancement (1996), NHMRC, Canberra, xxxii.

[90] National Public Health Partnership Public Health Genetics Working Group, Consultation, Melbourne, 22 October 2002. See Ch 23.

[91] In general, such concerns expressed in submissions to the Inquiry related to consent to the storage of samples (see Ch 19) rather than to consent to testing itself. In any case, it may be that the more time and effort that is given to explaining the purpose of screening tests and the possible outcomes, the more likely that people will comply. In relation to prenatal screening, see T Marteau and others, ‘Factors Influencing the Uptake of Screening for Open Neural-tube Defects and Amniocentesis to Test for Down’s Syndrome’ (1989) 96 British Journal of Obstetrics and Gynaecology 739.

[92] Office of the Federal Privacy Commissioner, Submission G143, 22 March 2002.