Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Zornitza Stark; Tiffany Boughtwood; Peta Phillips; John Christodoulou; David P Hansen; Jeffrey Braithwaite; Ainsley J Newson; Clara L Gaff; Andrew H Sinclair; Kathryn N North

doi:10.1016/j.ajhg.2019.06.003

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.

Affiliations

¹ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia.
² Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
³ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Australian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
⁴ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW 2109, Australia.
⁵ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, the University of Sydney, Sydney, NSW 2006, Australia.
⁶ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia; Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia.
⁷ Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: [email protected].

Abstract

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*