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

doi:10.1016/j.ajhg.2023.01.018

Review

. 2023 Mar 2;110(3):419-426.

doi: 10.1016/j.ajhg.2023.01.018.

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

Zornitza Stark¹, Tiffany Boughtwood², Matilda Haas³, Jeffrey Braithwaite⁴, Clara L Gaff⁵, Ilias Goranitis⁶, Amanda B Spurdle⁷, David P Hansen⁸, Oliver Hofmann⁹, Nigel Laing¹⁰, Sylvia Metcalfe³, Ainsley J Newson¹¹, Hamish S Scott¹², Natalie Thorne⁵, Robyn L Ward¹³, Marcel E Dinger¹⁴, Stephanie Best¹⁵, Janet C Long¹⁶, Sean M Grimmond⁹, John Pearson¹⁷, Nicola Waddell¹⁸, Christopher P Barnett¹⁹, Matthew Cook²⁰, Michael Field²¹, David Fielding²², Stephen B Fox²³, Jozef Gecz²⁴, Adam Jaffe²⁵, Richard J Leventer²⁶, Paul J Lockhart²⁷, Sebastian Lunke²⁸, Andrew J Mallett²⁹, Julie McGaughran³⁰, Linda Mileshkin³¹, Katia Nones¹⁸, Tony Roscioli³², Ingrid E Scheffer³³, Christopher Semsarian³⁴, Cas Simons³⁵, David M Thomas³⁶, David R Thorburn³⁷, Richard Tothill³⁸, Deborah White³⁹, Sally Dunwoodie⁴⁰, Peter T Simpson⁴¹, Peta Phillips⁴², Marie-Jo Brion⁴², Keri Finlay⁴², Michael Cj Quinn⁴³, Tessa Mattiske⁴², Emma Tudini⁴⁴, Kirsten Boggs⁴⁵, Sean Murray⁴⁶, Kathy Wells⁴⁷, John Cannings⁴⁸, Andrew H Sinclair⁴⁹, John Christodoulou⁴⁹, Kathryn N North⁵⁰

Affiliations

¹ 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. Electronic address: zornitza.stark@vcgs.org.au.
² Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Childhood Dementia Initiative, Sydney, NSW, Australia.
³ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁴ 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.
⁵ 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.
⁶ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; 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.
⁷ Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
⁸ Australian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
⁹ University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
¹⁰ Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
¹¹ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, NSW, Australia.
¹² 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.
¹³ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
¹⁴ School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
¹⁵ 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.
¹⁶ Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
¹⁷ Genome Informatics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
¹⁸ Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
¹⁹ Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
²⁰ Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia; Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK.
²¹ Genetics of Learning Disability Service, Hunter Genetics, Newcastle, NSW, Australia.
²² 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.
²³ Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
²⁴ Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
²⁵ 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.
²⁶ University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
²⁷ University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²⁸ 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.
²⁹ 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.
³⁰ Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
³¹ Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
³² 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.
³³ 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.
³⁴ 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.
³⁵ 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.
³⁶ Garvan Institute of Medical Research, Sydney, NSW, Australia.
³⁷ 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.
³⁸ 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.
³⁹ 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.
⁴⁰ 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.
⁴¹ Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
⁴² Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁴³ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.
⁴⁴ 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.
⁴⁵ 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.
⁴⁶ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Mito Foundation, Sydney, NSW, Australia.
⁴⁷ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Breast Cancer Network Australia, Melbourne, VIC, Australia.
⁴⁸ 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.
⁴⁹ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁵⁰ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia. Electronic address: kathryn.north@mcri.edu.au.

PMID: 36868206
PMCID: PMC10027474
DOI: 10.1016/j.ajhg.2023.01.018

Review

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

Zornitza Stark et al. Am J Hum Genet. 2023.

. 2023 Mar 2;110(3):419-426.

doi: 10.1016/j.ajhg.2023.01.018.

Authors

Affiliations

¹ 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. Electronic address: zornitza.stark@vcgs.org.au.
² Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Childhood Dementia Initiative, Sydney, NSW, Australia.
³ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁴ 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.
⁵ 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.
⁶ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; 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.
⁷ Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
⁸ Australian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
⁹ University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
¹⁰ Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
¹¹ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, NSW, Australia.
¹² 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.
¹³ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
¹⁴ School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
¹⁵ 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.
¹⁶ Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
¹⁷ Genome Informatics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
¹⁸ Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
¹⁹ Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
²⁰ Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia; Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK.
²¹ Genetics of Learning Disability Service, Hunter Genetics, Newcastle, NSW, Australia.
²² 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.
²³ Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
²⁴ Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
²⁵ 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.
²⁶ University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
²⁷ University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²⁸ 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.
²⁹ 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.
³⁰ Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
³¹ Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
³² 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.
³³ 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.
³⁴ 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.
³⁵ 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.
³⁶ Garvan Institute of Medical Research, Sydney, NSW, Australia.
³⁷ 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.
³⁸ 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.
³⁹ 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.
⁴⁰ 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.
⁴¹ Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
⁴² Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁴³ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.
⁴⁴ 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.
⁴⁵ 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.
⁴⁶ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Mito Foundation, Sydney, NSW, Australia.
⁴⁷ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Breast Cancer Network Australia, Melbourne, VIC, Australia.
⁴⁸ 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.
⁴⁹ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁵⁰ Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia. Electronic address: kathryn.north@mcri.edu.au.

PMID: 36868206
PMCID: PMC10027474
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 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.

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Conflict of interest statement

Declaration of interests R.L.W. is the Chair of the Medical Services Advisory Committee; the views in this paper are not representing those of the Commonwealth of Australia. I.E.S. has served on scientific advisory boards for BioMarin, Chiesi, Eisai, Encoded Therapeutics, GlaxoSmithKline, Knopp Biosciences, Nutricia, Rogcon, Takeda Pharmaceuticals, UCB, and Xenon Pharmaceuticals; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, Chiesi, Liva Nova, Nutricia, Zuellig Pharma, and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin, and Eisai; has served as an investigator for Anavex Life Sciences, Cerecin Inc, Cerevel Therapeutics, Eisai, Encoded Therapeutics, EpiMinder Inc, Epygenyx, ES-Therapeutics, GW Pharma, Marinus, Neurocrine BioSciences, Ovid Therapeutics, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceuticals, Zogenix, and Zynerba; and has consulted for Care Beyond Diagnosis, Epilepsy Consortium, Atheneum Partners, Ovid Therapeutics, UCB, Zynerba Pharmaceuticals, BioMarin, Encoded Therapeutics, and Biohaven Pharmaceuticals; and is a Non-Executive Director of Bellberry Ltd and a Director of the Australian Academy of Health and Medical Sciences and the Australian Council of Learned Academies Limited. She may accrue future revenue on pending patent WO61/010,176 (filed: 2008): Therapeutic Compound; has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies; and has a patent molecular diagnostic/theranostic target for benign familial infantile epilepsy (BFIE) (PRRT2) 2,011,904,493 & 2,012,900,190 and PCT/AU2012/001,321 (TECH ID:2012-009).

Figures

**Figure 1**
Informing evidence-based implementation of genomic testing in rare disease and cancer (A) National recruitment sites, participant demographics, and willingness for data to be used for further research. (B and C) Diagnostic outcomes of genomic testing across (B) 13 rare disease and (C) 6 cancer studies.

**Figure 2**
The Australian landscape of national and state/territory-based policies, frameworks, and genomic initiatives National, orange; state/territory, blue. SA, South Australia; WA, Western Australia; OPHG, Office of Population Health Genomics; QLD, Queensland; VIC, Victoria; NSW, New South Wales.

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References

1. Gaff C.L., M Winship I., M Forrest S., P Hansen D., Clark J., M Waring P., South M., H Sinclair A. Preparing for genomic medicine: a real world demonstration of health system change. NPJ Genom. Med. 2017;2:31. - PMC - PubMed
1. Stark Z., Dolman L., Manolio T.A., Ozenberger B., Hill S.L., Caulfied M.J., Levy Y., Glazer D., Wilson J., Lawler M., et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet. 2019;104:13–20. - PMC - PubMed
1. All of Us Research Program Investigators. Denny J.C., Rutter J.L., Goldstein D.B., Philippakis A., Smoller J.W., Jenkins G., Dishman E. The "All of Us" research program. N. Engl. J. Med. 2019;381:668–676. - PMC - PubMed
1. Turnbull C., Scott R.H., Thomas E., Jones L., Murugaesu N., Pretty F.B., Halai D., Baple E., Craig C., Hamblin A., et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018;361:k1687. - PubMed
1. Fatumo S., Yakubu A., Oyedele O., Popoola J., Attipoe D.A., Eze-Echesi G., Modibbo F.Z., Ado-Wanka N., et al. 54gene Team. NCD-GHS Consortium Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project. Nat. Genet. 2022;54:531–536. - PubMed

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[1] Gaff C.L., M Winship I., M Forrest S., P Hansen D., Clark J., M Waring P., South M., H Sinclair A. Preparing for genomic medicine: a real world demonstration of health system change. NPJ Genom. Med. 2017;2:31. - PMC - PubMed

[2] Gaff C.L., M Winship I., M Forrest S., P Hansen D., Clark J., M Waring P., South M., H Sinclair A. Preparing for genomic medicine: a real world demonstration of health system change. NPJ Genom. Med. 2017;2:31. - PMC - PubMed

[3] Stark Z., Dolman L., Manolio T.A., Ozenberger B., Hill S.L., Caulfied M.J., Levy Y., Glazer D., Wilson J., Lawler M., et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet. 2019;104:13–20. - PMC - PubMed

[4] Stark Z., Dolman L., Manolio T.A., Ozenberger B., Hill S.L., Caulfied M.J., Levy Y., Glazer D., Wilson J., Lawler M., et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet. 2019;104:13–20. - PMC - PubMed

[5] All of Us Research Program Investigators. Denny J.C., Rutter J.L., Goldstein D.B., Philippakis A., Smoller J.W., Jenkins G., Dishman E. The "All of Us" research program. N. Engl. J. Med. 2019;381:668–676. - PMC - PubMed

[6] All of Us Research Program Investigators. Denny J.C., Rutter J.L., Goldstein D.B., Philippakis A., Smoller J.W., Jenkins G., Dishman E. The "All of Us" research program. N. Engl. J. Med. 2019;381:668–676. - PMC - PubMed

[7] Turnbull C., Scott R.H., Thomas E., Jones L., Murugaesu N., Pretty F.B., Halai D., Baple E., Craig C., Hamblin A., et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018;361:k1687. - PubMed

[8] Turnbull C., Scott R.H., Thomas E., Jones L., Murugaesu N., Pretty F.B., Halai D., Baple E., Craig C., Hamblin A., et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018;361:k1687. - PubMed

[9] Fatumo S., Yakubu A., Oyedele O., Popoola J., Attipoe D.A., Eze-Echesi G., Modibbo F.Z., Ado-Wanka N., et al. 54gene Team. NCD-GHS Consortium Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project. Nat. Genet. 2022;54:531–536. - PubMed

[10] Fatumo S., Yakubu A., Oyedele O., Popoola J., Attipoe D.A., Eze-Echesi G., Modibbo F.Z., Ado-Wanka N., et al. 54gene Team. NCD-GHS Consortium Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project. Nat. Genet. 2022;54:531–536. - PubMed

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

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

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