Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003.


Australian Genomics is a national collaborative research partnership of more than 80 organizations piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles. The aim of Australian Genomics is to assess the application of genomic testing in healthcare at the translational interface between research and clinical delivery, with an emphasis on robust evaluation of outcomes. It encompasses two bodies of work: a research program prospectively providing genomic testing through exemplar clinical projects in rare diseases, cancers, and reproductive carrier screening and interdependent programs for advancing the diagnostic, health informatics, regulatory, ethical, policy, and workforce infrastructure necessary for the integration of genomics into the Australian health system.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Australia / epidemiology
  • Delivery of Health Care*
  • Genomics / methods*
  • Humans
  • Models, Theoretical*
  • Rare Diseases / epidemiology
  • Rare Diseases / genetics*