Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Z Stark; T Boughtwood; M Haas; J Braithwaite; CL Gaff; I Goranitis; AB Spurdle; DP Hansen; O Hofmann; N Laing; S Metcalfe; AJ Newson; HS Scott; N Thorne; RL Ward; ME Dinger; S Best; JC Long; SM Grimmond; J Pearson; N Waddell; CP Barnett; M Cook; M Field; D Fielding; SB Fox; J Gecz; A Jaffe; RJ Leventer; PJ Lockhart; S Lunke; AJ Mallett; J McGaughran; L Mileshkin; K Nones; T Roscioli; IE Scheffer; C Semsarian; C Simons; DM Thomas; DR Thorburn; R Tothill; D White; S Dunwoodie; PT Simpson; P Phillips; MJ Brion; K Finlay; MC Quinn; T Mattiske; E Tudini; K Boggs; S Murray; K Wells; J Cannings; AH Sinclair; J Christodoulou; KN North

Journal article

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Z Stark, T Boughtwood, M Haas, J Braithwaite, CL Gaff, I Goranitis, AB Spurdle, DP Hansen, O Hofmann, N Laing, S Metcalfe, AJ Newson, HS Scott, N Thorne, RL Ward, ME Dinger, S Best, JC Long, SM Grimmond, J Pearson Show all

American Journal of Human Genetics | Published : 2023

DOI: 10.1016/j.ajhg.2023.01.018

Abstract

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tes..

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University of Melbourne Researchers

Zornitza Stark Author

Clara Gaff Author

Ilias Goranitis Author

Oliver Hofmann Author

Related Projects (1)

PREPARING AUSTRALIA FOR GENOMIC MEDICINE: A PROPOSAL BY THE AUSTRALIAN GENOMICS HEALTH ALLIANCE

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

We would like to thank all participants, families, advisory board members, and research collaborators. The Australian Genomics Health Alliance (Australian Genomics) project was funded by an NHMRC Targeted Call for Research grant (GNT1113531). Mackenzie's Mission, the Australian Genomics Cardiovascular Genetics Disorders Flagship, Massimo's Mission Leukodystrophy Flagship, and the Acute Care Flagship were funded by the Australian Government's Medical Research Futures Fund.