Our Research

The implementation of genomic medicine across Australia doesn’t come without challenges. To best understand and address these challenges, we are undertaking research within four key programs:

  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

The Cancer and Rare Disease Flagships are integrated within the research programs and are used as examples for system-wide implementation – providing access to patients to drive the networks and data collection for the programs, and in turn being supported by their infrastructure.

Accelerating implementation

Our research is designed to provide evidence of clinical utility and cost effectiveness while embedding genomic medicine into the health system.

Our research is being performed within the health system, as part of healthcare delivery. This approach leads to faster translation of new knowledge within the system while increasing the research and implementation capacity of clinicians, and rapidly delivering benefits to patients.

Principles and goals

Through our ambitious research program we aim to:

  • Improve diagnostic rates and shorten time to diagnosis for rare diseases
  • Improve clinical trial readiness of patients across cancer and rare diseases
  • Improve monitoring, treatment and management options for patients
  • Develop new knowledge that will lead to improvements in health and quality of life
  • Provide robust health economic analysis of the implementation of genomic medicine that will inform state and federal government policy
  • Provide evidence of the best implementation practices for the clinical delivery of genomics
  • Build on close linkages between clinicians and researchers to accelerate gene discovery and the application of genomics to improve diagnosis, prevention and targeted therapy

Reproductive Carrier Screening

The Reproductive Carrier Screening project is a pilot program to test couples’ chances of passing on severe genetic conditions to their children. About 10,000 volunteer couples who are thinking of having a baby or who are in the early stages of pregnancy will be screened for about 500 genetic conditions.

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.