Australia: Public Health Genomics

Document Type

Journal Article




Faculty of Computing, Health and Science


School of Exercise, Biomedical and Health Science




Originally published as: Metcalfe, S. A., Bittles, A. H., O’Leary, P., & Emery, J. (2009). Australia: public health genomics. Public Health Genomics, 12(2), 121-128. Original available here


Australia has a multicultural society that has arisen from continuing migration. While the population is relatively small, just over 20.7 million, it is genetically diverse and is spread over a large land mass. The federal system of government is democratic, based on states and territories, and there is a socialized healthcare system, in which public and private models operate in parallel. Clinical genetics services are publicly funded by State Departments of Health, rather than by the Commonwealth Government, with the model of service provision varying from state to state. Each of these factors has important implications for the effective delivery of genetic screening programs and clinical genetic services that meet the needs of all Australians. Population genetic screening occurs throughout Australia predominantly as newborn screening programs and to identify pregnancies at risk of chromosomal and neural tube defects, while carrier screening programs are essentially ad hoc. Despite inevitable tensions between federal and state policies, there is increasing evidence of the development of national policy in a range of genetic issues, not least in newborn screening, genetic testing, and health professional education. However, further work is necessary to establish frameworks for the regulation and funding of new genetic tests across state/federal boundaries, which will be crucial to the establishment of a national approach to public health genomics policy.




Link to publisher version (DOI)