Our Approach

A whole-of-system approach

Australian Genomics uses its national footprint and diverse network of partners to drive research through the clinical flagship projects, and the program areas that model the infrastructure supporting genomic health service delivery. The flagships and programs intersect across multiple projects.


The research programs span four infrastructural areas which address the key challenges of integrating genomics into healthcare:

  1. A national diagnostic and research network
  2. A national approach to data federation and analysis
  3. Evaluation, policy and ethics
  4. Workforce and education

Clinical Flagships

Cancer and Rare Diseases are areas where genomics can demonstrate immediate diagnostic advances, and where Australia has strong clinical, diagnostic and research expertise. The flagships are collaborative clinical studies, implemented through the extensive network of partner organisations that make up Australian Genomics.

Patients from every Australian state and territory are recruited into flagship projects and the data from their clinical care drives the national diagnostic networks, thus providing the evidence on genomic medicine. This information is used to shape recommendations relating to the program areas, such as education, ethics, policy, health economics and data.

The flagships are investigating how genomics can:

  • Diagnose disease early, rapidly, accurately and cost-effectively – avoiding further testing
  • Improve clinical care and enable treatment options based on a person’s genetic information
  • Help families plan for the future, equipped with the knowledge of their genetic information
  • Manage disease risk and make precision therapy increasingly possible

Reproductive Carrier Screening

Mackenzie’s Mission, (the Australian Reproductive Genetic Carrier Screening Project) is a research study offering reproductive genetic carrier screening to 10,000 Australian couples who are either planning to have children, or are in early pregnancy. The study will give couples information about their likelihood of having a child with a severe genetic condition occurring in childhood.

Australian Genomics administers the project in partnership with the University of NSW, The University of Western Australia and Murdoch Children’s Research Institute. It is funded under the Federal Government’s Genomics Health Futures Mission.

For more on Mackenzie’s Mission, please visit mackenziesmission.org.au