Current regulation and guidance

24.38 The conduct of population genetic testing programs is subject to the same forms of regulation that govern genetic testing generally, including information and health privacy legislation, the law relating to consent to medical treatment and medical testing, and other laws and guidelines regulating the medical profession.

24.39 As population genetic screening programs are largely conducted through state and territory government health authorities, the collection, storage, use and disclosure of information derived from them will be subject to state and territory information and health privacy legislation, where it exists.^[31] The Privacy Act 1988 (Cth) (Privacy Act) will also apply to some screening programs, for example those conducted by Australian Capital Territory public health authorities.

24.40 Australia does not have a national policy statement on population genetic screening. However, some guidance has been provided by the National Health and Medical Research Council (NHMRC)^[32] and the Royal Australian College of General Practitioners (RACGP).^[33] Internationally, the World Health Organization (WHO) has developed widely accepted ethical standards for population genetic screening.^[34]

24.41 In relation to newborn screening, the Human Genetics Society of Australasia (HGSA) and the Paediatrics Division of the Royal Australasian College of Physicians (RACP) have released a joint policy statement (the HGSA/RACP policy statement).^[35] Some state health departments have also produced guidelines on newborn screening.^[36] These statements and guidelines are discussed below.

General population genetic screening guidelines

24.42 The NHMRC deals briefly with population genetic screening in its information paper, Ethical Aspects of Genetic Testing.^[37] The paper defines a ‘screening test’ and outlines the contexts in which screening might be undertaken and the objectives of screening programs. The paper states that written consent should be obtained for screening tests and counselling is recommended following an abnormal result. The paper notes that the information and counselling needs of screening program participants differ from those who have had experience of a disorder in their own families.

Those undergoing a screening test will often have little understanding of the disorder in question, as they may never have met an affected person or had the opportunity to learn about the condition. Further, there is a relatively small chance that the test result will be abnormal, and if the test result is abnormal, the chance that they will develop the disorder may be only a little or moderately increased.^[38]

24.43 The RACGP’s Guidelines for Preventive Activities in General Practice includes a chapter devoted to genetic screening.^[39] The guidelines state that there is no evidence to support routine genetic screening of all patients, but notes that this may change in the future.^[40] Doctors should only screen individuals who appear to be at a higher risk for a genetic condition, after a detailed medical history has been taken.^[41] The guidelines list general factors that may suggest the presence of genetically determined disease and note that some ethnic and racial groups are at increased risk of certain genetic conditions.

24.44 Ethical standards for population genetic screening have been developed internationally. In 1968, WHO released general guidelines for the conduct of population screening programs.^[42] These guidelines were not specifically directed at genetic screening, and were developed before carrier testing was common. A fundamental presumption of the 1968 WHO guidelines was that conditions screened for should be treatable. This presumption does not apply to all forms of genetic screening, for example, carrier testing. In 1997 the general guidelines were augmented by specific guidance on genetic screening and testing.^[43] These additional WHO guidelines state that:

• genetic screening should be voluntary (with the exception of newborn screening where early diagnosis and treatment will benefit the newborn);

• genetic screening should be preceded by adequate information about the purpose and possible outcomes of the screening and potential choices to be made;

• anonymous screening for epidemiological purposes may be conducted after notification of the population to be screened, but results should not be disclosed to employers, insurers, schools or others without the individual’s consent, in order to avoid possible discrimination;

• in rare cases where disclosure may be in the best interests of the individual or for public safety, the health provider may work with the individual towards a decision by him or her;

• test results should be followed by genetic counselling, particularly where they are unfavourable;

• if treatment or prevention exists or is available, this should be offered with a minimum of delay.^[44]

24.45 The European Society for Human Genetics (ESHG) has stated that any new population genetic screening program should be voluntary and have defined health goals, a defined target population, laboratory controls, and measures to ensure the confidentiality of results and the provision of education. The ESHG also stated that population genetic screening programs should be evaluated through pilot programs before being introduced and that these programs should evaluate the test, its clinical validity and its acceptability, uptake rates, the use of the test results in decision making, the psychosocial consequences of the test, the utility of the screening process and total program costs.^[45]

24.46 In the United Kingdom, a national body was established in 1996 to assess and oversee population screening programs, including those for genetic disorders. The National Screening Committee (NSC) advises government on all aspects of screening policy, the implementation of new screening programs and the evaluation of current programs. Since 1996, the National Health Service has been directed not to implement new population screening programs until they have been reviewed by the NSC. The NSC assesses screening programs against detailed criteria based on the WHO standards. The NSC emphasises that screening should involve more than just the offer of a test—it should educate the public and allow individuals to make free and informed health decisions.^[46]

Newborn screening guidelines

24.47 The HGSA/RACP policy statement on newborn screening programs recommends that genetic disorders should be screened for only where:

• there is benefit for the individual from early diagnosis;

• the benefit is reasonably balanced against financial and other costs;

• there is a reliable test suitable for newborn screening; and

• there is a satisfactory system in operation to deal with diagnostic testing, counselling, treatment and follow-up of patients identified by the test.^[47]

24.48 The HGSA/RACP policy statement provides that participation in the program should not be mandatory and the personal information of participants should remain private.^[48] The statement also recommends which disorders should be screened for, and with what priority.^[49]

24.49 The New South Wales Health Department and the Victorian Department of Human Services have also developed guidelines for newborn screening programs.^[50] The New South Wales guidelines emphasise the need for early detection and treatment of the genetic disorders covered by the program. The guidelines cover:

• the conditions to be screened for and procedures for testing, including the timing of the test, taking of the blood, and transfer of samples to the laboratory;

• the information to be provided to parents, and obtaining verbal consent from parents or guardians (consent must be preceded by a documented discussion about the testing process and refusals must be in writing and signed);

• follow-up and re-testing procedures where results indicate a disorder;

• compliance with relevant privacy legislation and the New South Wales Health Department’s Information Privacy Code of Practice; and

• the nomination by hospitals of a newborn screening liaison officer.^[51]

24.50 The Victorian guidelines are similar, but include an additional requirement that parents who wish to refuse testing are referred to a newborn screening counsellor and required to sign a written statement of refusal stating that they understand the potential risk to their baby.^[52]

24.51 The Inquiry understands that newborn screening in the Australian Capital Territory follows the New South Wales guidelines. South Australia (which also conducts screening of Tasmanian and some Northern Territory newborns) and Western Australia follow the HGSA/RCPA policy statement.^[53]