Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/32329
Title: Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Austin Authors: Stark, Zornitza;Boughtwood, Tiffany;Haas, Matilda;Braithwaite, Jeffrey;Gaff, Clara L;Goranitis, Ilias;Spurdle, Amanda B;Hansen, David P;Hofmann, Oliver;Laing, Nigel;Metcalfe, Sylvia;Newson, Ainsley J;Scott, Hamish S;Thorne, Natalie;Ward, Robyn L;Dinger, Marcel E;Best, Stephanie;Long, Janet C;Grimmond, Sean M;Pearson, John;Waddell, Nicola;Barnett, Christopher P;Cook, Matthew;Field, Michael;Fielding, David;Fox, Stephen B;Gecz, Jozef;Jaffe, Adam;Leventer, Richard J;Lockhart, Paul J;Lunke, Sebastian;Mallett, Andrew J;McGaughran, Julie;Mileshkin, Linda;Nones, Katia;Roscioli, Tony;Scheffer, Ingrid E ;Semsarian, Christopher;Simons, Cas;Thomas, David M;Thorburn, David R;Tothill, Richard;White, Deborah;Dunwoodie, Sally;Simpson, Peter T;Phillips, Peta;Brion, Marie-Jo;Finlay, Keri;Quinn, Michael Cj;Mattiske, Tessa;Tudini, Emma;Boggs, Kirsten;Murray, Sean;Wells, Kathy;Cannings, John;Sinclair, Andrew H;Christodoulou, John;North, Kathryn N
Affiliation: Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Childhood Dementia Initiative, Sydney, NSW, Australia.
Medicine (University of Melbourne)
Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia; International Society for Quality in Health Care, Dublin, Ireland.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia; Walter and Eliza Hall Institute, Melbourne, VIC, Australia.
Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Australian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia; Walter and Eliza Hall Institute, Melbourne, VIC, Australia.
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre, Melbourne, VIC, Australia.
Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
Genome Informatics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia; Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK.
Genetics of Learning Disability Service, Hunter Genetics, Newcastle, NSW, Australia.
Department of Thoracic Medicine, The Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia; Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Sydney Children's Hospital Network, Randwick, Sydney, NSW, Australia.
University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.
KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia; Department of Renal Medicine, Townsville University Hospital, Townsville, QLD, Australia; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, NSW, Australia.
University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia.
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales, Sydney, NSW, Australia.
Garvan Institute of Medical Research, Sydney, NSW, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Clinical Pathology and Centre for Cancer Research, University of Melbourne, Melbourne, VIC, Australia.
Blood Cancer Program, Precision Cancer Medicine Theme, The South Australian Medical Research Institute, Adelaide, SA, Australia; Faculty of Health and Medical Science, The University of Adelaide, Adelaide, SA, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.
Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
The Florey Institute of Neuroscience and Mental Health
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Sydney Children's Hospital Network, Randwick, Sydney, NSW, Australia; Sydney Children's Hospital Network, Westmead, NSW, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Mito Foundation, Sydney, NSW, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Breast Cancer Network Australia, Melbourne, VIC, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Thoracic Oncology Group of Australasia, Melbourne, VIC, Australia; ProCan, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Issue Date: 2-Mar-2023
Publication information: American Journal of Human Genetics 2023; 110(3)
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 tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.
URI: https://ahro.austin.org.au/austinjspui/handle/1/32329
DOI: 10.1016/j.ajhg.2023.01.018
ORCID: 
Journal: American Journal of Human Genetics
Start page: 419
End page: 426
PubMed URL: 36868206
ISSN: 1537-6605
Type: Journal Article
Subjects: Genomics
Appears in Collections:Journal articles

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