Access to genetic testing

10.15 Access to genetic testing in Australia is affected by a number of factors. These include the availability of genetic tests, the cost of testing (including the availability of public and private health insurance), the request pathways through which tests are ordered and laboratory protocols in relation to the performance of testing. These factors are discussed separately below.

Availability of genetic testing

10.16 The Human Genetics Society of Australasia (HGSA) maintains a register of medical genetic tests that are available in Australia and the laboratories that provide them. According to the HGSA, there are presently around 220 DNA diagnostic tests available from 44 laboratories across Australia.[10]

10.17 Some genetic tests offered overseas are not available in Australia. Likewise, some types of tests offered in Australia are not available, or not widely performed, in other countries. The availability of genetic testing in Australia is dependent not only on genetic testing technology, but on decisions about which tests are ethically acceptable, and on a cost-benefit analysis of a particular test. In addition, the availability of a genetic test in a particular laboratory may reflect the research interests of that laboratory. For example, a laboratory that undertakes research into a particular genetic disease might also offer, as part of its research work, a DNA diagnostic service for that disease.

10.18 The availability of genetic identification and kinship testing varies between states and between laboratories within a state. Identification and kinship testing is available in Australia from 21 NATA accredited laboratories and an unknown number of non-accredited laboratories for law enforcement, parentage, immigration and other purposes.

10.19 The availability of genetic testing is not limited to Australian laboratories. The marketing of genetic testing directly to the public through mail order and the Internet has facilitated access to genetic testing from overseas laboratories, sometimes at lower cost. The regulation of genetic testing provided directly to the public, including by service providers overseas, is discussed in Chapter 11.

Cost of genetic testing

10.20 Genetic testing is still a relatively slow and expensive process. However, technology is advancing rapidly. The development of automated ‘DNA chip’ technology may soon make it technically possible and financially practicable to conduct multiplex testing, in which screening is conducted for numerous genetic mutations simultaneously in a single test procedure.[11] It may soon be the case that the genetic information available will outstrip the capacity of health systems to interpret it and counsel patients effectively.[12]

10.21 As with other health services, effective access to genetic testing depends on the cost to consumers of testing procedures and on the rebates provided by public and private health insurers. The cost of genetic testing procedures varies, from less than $100 to more than $1000, depending on a number of factors.[13]

    • Test methodology. Low complexity tests (for example, single gene mutation) are less expensive than high complexity tests (for example, full gene sequencing).

    • Laboratory testing strategy. Some laboratories test for a large number of mutations at once; others test in stepwise fashion, beginning with the most common mutations.

    • Number of individuals tested. Several family members may need to be tested to obtain a meaningful test result.

    • Contractual agreements. Private and public hospitals, insurers and laboratories negotiate contracts to set the price of testing and the amount of reimbursement.[14]

    • Specimen handling. Some cell types require culturing or other special handling before testing.

    • Additional services. Genetic consultation or counselling is usually recommended and sometimes required before genetic testing is performed. These fees should be considered in the total cost.

    • Intellectual property. The enforceability of patents in relation to the human genome or genetic processes may substantially increase the costs of some tests. Patents provide temporary monopoly rights as a reward for innovation.


10.22 Medicare is Australia’s public health insurance scheme. Introduced in 1984, its stated objectives are to make health care affordable for all Australians, to give all Australians access to health care services with priority according to clinical need, and to provide a high quality of care.[15]

10.23 Medicare currently funds a range of tests relevant to genetic disorders. These include cytogenetics,[16] alpha feto protein and related biochemical markers, and ultrasound derived nuchal translucency. The Medicare Benefits Schedule (MBS) funds DNA genetic tests under four MBS items, which concern testing for haemochromatosis, Factor V Leiden, protein C or s deficiencies, and antithrombin 3 deficiency.[17] DNA tests are Medicare funded under two categories:

    • diagnostic testing to confirm a clinical observation (for example, in the case of haemochromatosis the patient must have raised iron levels); and

    • screening of asymptomatic individuals where the patient is a first-degree genetic relative of another individual who is known to have the condition.

10.24 Under current arrangements, if medical practitioners wish to have a new test listed in the MBS, they must apply to the Medical Services Advisory Committee (MSAC). MSAC provides advice to the federal Minister for Health and Ageing about the strength of evidence relating to the safety, effectiveness and cost effectiveness of new and emerging medical services and technologies and under what circumstances public funding, including listing on the MBS, should be supported.

10.25 MSAC has an established process for assessing whether new medical technologies and procedures should be put on the MBS. For example, MSAC has recently assessed the genetic test for Fragile X syndrome, which had been proposed as an alternative to the currently funded chromosomal tests for this condition. On 20 August 2002, the Minister for Health and Ageing accepted MSAC’s recommendation that public funding should be provided for the use of Fragile X testing.[18]

Private health insurance

10.26 Private health insurance currently provides very limited coverage for genetic testing. Private health insurers do not subsidise testing sought in outpatient services. They generally provide a subsidy only if genetic testing is required as part of a patient’s treatment regime when admitted into hospital and only if MBS also provides a rebate for the test.

Request pathways

10.27 A request pathway describes the steps that must be taken in order to obtain a genetic test, including referrals for testing and genetic counselling. The request pathway for genetic testing varies according to the type of testing sought, the laboratory from which the test is sought, and the health professional who requests it.

10.28 Medical genetic testing usually requires referral from a medical practitioner as well as pre-test and post-test counselling.[19] The request pathway for kinship testing is less regulated. Generally it is available without referral or counselling—in some cases it is available without the consent of the person being tested. The request pathways for genetic testing form part of broader issues relating to the regulation of genetic testing, aspects of which are considered in Chapters 11 and 23.

[10] J Brasch, DNA Diagnosis of Genetic Disorders in Australasia, Human Genetics Society of Australasia, <>, 19 February 2003. Not all tests are available from all laboratories. The register does not include newborn screening, laboratories that test for cystic fibrosis or forensic testing laboratories used for identification testing.

[11] Also known as ‘gene chips’, ‘biochips’ and ‘DNA microarrays’. See S Moore, ‘Making Chips to Probe Genes’, IEEE Spectrum, 1 March 2001, 54.

[12] American Medical Association Council on Ethical and Judicial Affairs, ‘Multiplex Genetic Testing’ (1998) 28(4) Hastings Center Report 15.

[13] See eg Children’s Health System and University of Washington, Gene Tests, Gene Clinics, <>, 20 February 2003.

[14] See Medicare Benefits Schedule, Items 66794, 65132 and 65168.

[15] See Medicare website: Commonwealth of Australia, HIC, <>, 20 February 2003.

[16] MBS cytogenetic testing for genetic abnormalities allows for chromosome studies in tissue, fluid or blood and relates to diverse clinical areas such as malignancy, prenatal diagnosis, infertility and constitutive chromosome abnormalities: Commonwealth Department of Health and Ageing, Submission G313, 6 February 2003.

[17] Department of Health and Ageing, Medicare Benefits Schedule (MBS), Department of Health and Ageing, <>, 3 February 2003.

[18] Medicare Services Advisory Committee, Genetic Test for Fragile X Syndrome: Assessment Report, Department of Health and Ageing, <>, 20 February 2003, 38.

[19] National Health and Medical Research Council, Ethical Aspects of Human Genetic Testing: an Information Paper (2000), NHMRC, Canberra.