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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
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.
Afiliação
  • Stark Z; 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.
  • Boughtwood T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Childhood Dementia Initiative, Sydney, NSW, Australia.
  • Haas M; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Braithwaite J; 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.
  • Gaff CL; 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,
  • Goranitis I; 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, Austral
  • Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Hansen DP; Australian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
  • Hofmann O; University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
  • Laing N; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
  • Metcalfe S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Newson AJ; 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.
  • Scott HS; 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, Un
  • Thorne N; 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,
  • Ward RL; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • Dinger ME; School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
  • Best S; 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 Melbo
  • Long JC; Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
  • Grimmond SM; University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
  • Pearson J; Genome Informatics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Waddell N; Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
  • Cook M; Centre for Personalised Immunology, Australian National University, Canberra, ACT, Australia; Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK.
  • Field M; Genetics of Learning Disability Service, Hunter Genetics, Newcastle, NSW, Australia.
  • Fielding D; 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.
  • Fox SB; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
  • Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
  • Jaffe A; 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.
  • Leventer RJ; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
  • Lockhart PJ; University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Lunke S; 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.
  • Mallett AJ; 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
  • McGaughran J; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
  • Mileshkin L; Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
  • Nones K; Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Roscioli T; 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.
  • Scheffer IE; 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 Insti
  • Semsarian C; 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.
  • Simons C; 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.
  • Thomas DM; Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Thorburn DR; 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.
  • Tothill R; 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.
  • White D; 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.
  • Dunwoodie S; 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.
  • Simpson PT; Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
  • Phillips P; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Brion MJ; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Finlay K; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Quinn MC; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.
  • Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Am J Hum Genet ; 110(3): 419-426, 2023 03 02.
Article em En | MEDLINE | ID: mdl-36868206
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Política de Saúde Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Política de Saúde Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article