23.40 While genetic testing for medical purposes usually requires a referral from a medical practitioner, there are currently no uniform protocols regarding referral. At least where there is no centralised clinical genetics service, protocols for dealing with referrals may vary between laboratories. Some may place more emphasis than others on ensuring that testing is linked with access to genetic counselling, or provide more interpretative information about genetic test results than others. In this situation, the laboratory may have to act as a ‘gatekeeper’, assessing whether the requesting medical practitioner has understood the patient’s need for information or counselling prior to testing. If not, the laboratory may have to discuss the matter with the practitioner or even decline to provide testing.
23.41 The absence of clear protocols on access to genetic testing services through health professionals may leave open the possibility of genetic testing in inappropriate circumstances. For example, the Australian Huntington’s Disease Association (NSW) expressed concern that some people at risk for Huntington’s disease
undergo presymptomatic testing without accessing a recognised genetics service and therefore can have the predictive test for HD without the comprehensive support and expertise of a genetic counsellor and geneticist.
23.42 A related concern is that medical practitioners may not make appropriate referrals for genetic counselling. One genetic counsellor suggested that systems for referral to genetic counselling may need to be developed so that requests for certain types of genetic test automatically generate a referral.
23.43 Although some submissions suggested that the ability to order genetic tests for medical purposes should be limited to certain categories of medical practitioner, this approach was generally rejected. For example, while the HGSA was critical of the current level of genetics understanding in the medical profession, it stopped short of recommending restrictions on the ability of medical practitioners to order genetic tests.
At present, most health professionals do not have the expertise to interpret the results of many genetic tests, whether done for diagnosis, carrier detection or predictive testing. This situation is not unique to genetic tests and applies in other specialised areas of medicine. It would be inappropriate to restrict the ability of health professionals to order diagnostic, carrier or prenatal genetic tests.
23.44 In relation to the delivery of genetic counselling by medical practitioners, the Department of Health and Ageing stated:
While primary care providers such as General Practitioners can provide a basic level of information and advice about genetic testing, there will be more complex cases in which it may be more appropriate to refer patients to genetic counsellors who can provide a more specialised service. The Department recognises the risks relating to the provision of incorrect information to patients by unqualified counsellors. However, it considers that it is important to ensure that primary health care and other medical professionals continue to be able to provide basic level counselling without the requirement to be formally registered as genetic counsellors.
23.45 The Department also noted that the AHMAC Advisory Group on Human Gene Patents and Genetic Testing is considering guidelines on the appropriate delivery of counselling services and the qualifications of those service providers and will consult with the HGSA and other stakeholders.
Classification of genetic tests
23.46 One option that could provide an enhanced level of oversight for ordering sensitive tests and ensure better access to genetic counselling is a scheme for classifying genetic tests, or categories of genetic tests. For example, it might be considered appropriate to develop protocols so that predictive testing of late onset neurological disorders (such as Huntington’s disease) can only be ordered by, or in collaboration with, a clinical genetics service.
23.47 The development of a classification scheme has been examined in the United States by the Secretary’s Advisory Committee on Genetic Testing (SACGT). SACGT developed a classification proposal that was subjected to pilot testing and public consultation. After considerable internal and public review, SACGT concluded that ‘fundamental, irresolvable questions’ had been raised about ‘the feasibility of categorising tests for oversight purposes based on a limited set of elements in a simple, linear fashion’.
23.48 The Queensland Clinical Genetics Service highlighted how the evaluation of genetic tests is complex and time intensive—and needs to involve assessment of the ethical, legal and social implications of a test, as well as its scientific validity.
23.49 An example of an evaluation methodology is that used in the United States in a project carried out by the Foundation for Blood Research, which evaluated emerging genetic testing by looking at analytical validity, clinical validity and clinical utility, as well as ethical, legal and social implications. Applying such models can be contrasted with the generally ad hoc process by which genetic tests may be introduced in the Australian health care system. Systematic evaluation is carried out only if a test is proposed for listing on the MBS, in which case the safety, effectiveness and cost effectiveness of testing will be assessed by the Medical Services Advisory Committee.
23.50 Despite the possible practical difficulties, in DP 66 the Inquiry proposed further development of genetic testing and counselling practice guidelines by the Human Genetics Commission of Australia (HGCA), in consultation with the HGSA, state clinical genetics services, and other interested organisations. DP 66 noted that such guidelines could indicate, for example, that certain types of genetic test may be ordered only where genetic counselling has been provided, or by medical practitioners with specific qualifications, or both. Guidelines could also emphasise the importance of using skilled multidisciplinary teams in the management of some genetic conditions and the need to identify when psychosocial support is required.
23.51 This proposal received broad support in submissions. The Genetic Support Council Western Australia emphasised the need for
appropriate involvement of community/consumer representation to ensure genetic counselling is responsive to the needs of genetic support groups and individuals with genetic conditions or genetic predispositions.
23.52 The Association of Genetic Support of Australasia (AGSA) emphasised that, in order to perform this role, the HGCA would need to include ‘geneticists, genetic counsellors, genetics support group representatives and molecular scientists’. The HGSA confirmed that it would be pleased to be involved with the proposed HGCA in developing genetic testing guidelines in accordance with the recommendation below.
Recommendation 6–3 The Human Genetics Commission of Australia (HGCA) should develop genetic testing and counselling practice guidelines, in consultation with the Human Genetics Society of Australasia, state clinical genetics services, and other interested organisations. These guidelines should identify genetic tests, or categories of genetic tests, that require special treatment in relation to procedures for ordering testing and ensuring access to genetic counselling. (See also Recommendation 5–3.)
 National Pathology Accreditation Advisory Council, Standards for Pathology Laboratories (1998), Department of Health and Family Services, Canberra, Standard 5—Specimens.
 However, the Inquiry understands that, in general, laboratories do not accept requests from general practitioners for sensitive types of genetic tests without referral to a genetic counsellor and clinical geneticist. Further, the HGSA has produced a range of policies and guidance notes relevant to requests for genetic testing: Human Genetics Society of Australasia, HGSA Policies, <www.hgsa.com.au>, 20 February 2003.
 Australian Huntington’s Disease Association (NSW), Submission G054, 14 January 2002.
 Association of Genetic Support Australasia Inc, Consultation, Sydney, 11 February 2002; Genetic Support Network of Victoria, Consultation, Melbourne, 18 March 2002.
 Genetic Counsellor, Consultation, Townsville, 3 April 2002.
 For example, the Neurofibromatosis Association of Australia submitted that ‘In our opinion medical practitioners should be required to undergo specific training before being able to order genetic testing or interpret the results for patients. In the ideal situation, only medically trained clinical geneticists should be authorised to order such tests and interpret their results’: Neurofibromatosis Association of Australia Inc, Submission G121, 18 March 2002.
 Human Genetics Society of Australasia, Submission G050, 14 January 2002.
 Commonwealth Department of Health and Ageing, Submission G313, 6 February 2003.
 See Secretary’s Advisory Committee on Genetic Testing, Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT (2000), National Institutes of Health, Baltimore; Secretary’s Advisory Committee on Genetic Testing, Development of a Classification Methodology for Genetic Tests: Conclusions and Recommendations of the Secretary’s Advisory Committee on Genetic Testing (2001), National Institutes of Health, Bethesda.
 Secretary’s Advisory Committee on Genetic Testing, Development of a Classification Methodology for Genetic Tests: Conclusions and Recommendations of the Secretary’s Advisory Committee on Genetic Testing (2001), National Institutes of Health, Bethesda.
 Queensland Clinical Genetics Service, Consultation, Brisbane, 11 November 2002.
 J Haddow and others, Genomics and Disease Prevention: Public Health Perspectives, Centers for Disease Control and Prevention, <www.cdc.gov/genomics/info/perspectives/files/testACCE.htm>, 20 February 2003.
 Queensland Clinical Genetics Service, Consultation, Brisbane, 11 November 2002.
 See Medicare Services Advisory Committee, Genetic Test for Fragile X Syndrome: Assessment Report, Department of Health and Ageing, <www.health.gov.au/msac/pdfs/msac1035.pdf>, 20 February 2003.
 Australian Law Reform Commission and Australian Health Ethics Committee, Protection of Human Genetic Information, DP 66 (2002), ALRC, Sydney, Proposal 20–3.
 Centre for Genetics Education, Submission G232, 18 December 2002; Genetic Support Network of Victoria, Submission G236, 23 December 2002; Cancer Council Victoria Cancer Genetics Advisory Committee, Submission G195, 27 November 2002; Genetic Health Services Victoria, Submission G211, 28 November 2002; Anglican Diocese of Sydney, Submission G256, 20 December 2002; Centre for Law and Genetics, Submission G255, 21 December 2002; Genetic Support Council WA, Submission G243, 19 December 2002; Human Genetics Society of Australasia, Submission G267, 20 December 2002; Australian Huntington’s Disease Association (NSW), Submission G054, 14 January 2002; Department of Health Western Australia, Submission G271, 23 December 2002; Association of Genetic Support of Australasia, Submission G284, 25 December 2002; Androgen Insensitivity Syndrome Support Group Australia, Submission G290, 5 January 2003; NSW Health Department, Submission G303, 13 January 2003; Department of Human Services South Australia, Submission G288, 23 December 2002.
 Genetic Support Council WA, Submission G243, 19 December 2002; The Genetic Support Network of Victoria also emphasised the need to involve genetic support groups in the development of HGCA guidelines: Genetic Support Network of Victoria, Submission G236, 23 December 2002.
 Association of Genetic Support of Australasia, Submission G284, 25 December 2002.
 Human Genetics Society of Australasia, Submission G267, 20 December 2002.