Evidence map›Paper›PMID 36868206›Full record

ReviewAmerican journal of human genetics2023

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

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing and 48 more

Abstract readReview
In one paragraph

Review in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

48 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  8. Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

58 authors.

Zornitza StarkAustralian 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.
Tiffany BoughtwoodAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Childhood Dementia Initiative, Sydney, NSW, Australia.
Matilda HaasAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Jeffrey BraithwaiteCentre 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.
Clara L GaffAustralian 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.
Ilias GoranitisAustralian 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.
Amanda B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
David P HansenAustralian e-Health Research Centre, CSIRO Health and Biosecurity, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Oliver HofmannUniversity of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
Nigel LaingCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Sylvia MetcalfeAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Ainsley J NewsonAustralian 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.
Hamish S ScottDepartment 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.
Natalie ThorneAustralian 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.
Robyn L WardFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Marcel E DingerSchool of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
Stephanie BestAustralian 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.
Janet C LongCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
Sean M GrimmondUniversity of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia.
John PearsonGenome Informatics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Nicola WaddellMedical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Christopher P BarnettPaediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
Matthew CookCentre for Personalised Immunology, Australian National University, Canberra, ACT, Australia; Department of Medicine, University of Cambridge, Puddicombe Way, Cambridge, UK.
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Newcastle, NSW, Australia.
David FieldingDepartment 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.
Stephen B FoxSir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Jozef GeczAdelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
Adam JaffeSchool 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.
Richard J LeventerUniversity of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
Paul J LockhartUniversity of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Sebastian LunkeAustralian 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.
Andrew J MallettKidGen 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.
Julie McGaughranGenetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Linda MileshkinDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Katia NonesMedical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Tony RoscioliCentre 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.
Ingrid E SchefferUniversity 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.
Christopher SemsarianFaculty 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.
Cas SimonsCentre 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.
David M ThomasGarvan Institute of Medical Research, Sydney, NSW, Australia.
David R ThorburnVictorian 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.
Richard TothillSir 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.
Deborah WhiteBlood 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.
Sally DunwoodieSchool of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.
Peter T SimpsonCentre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Peta PhillipsAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Marie-Jo BrionAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Keri FinlayAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Michael Cj QuinnAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.
Tessa MattiskeAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Emma TudiniAustralian 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.
Kirsten BoggsAustralian 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.
Sean MurrayAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Mito Foundation, Sydney, NSW, Australia.
Kathy WellsAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Breast Cancer Network Australia, Melbourne, VIC, Australia.
John CanningsAustralian 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.
Andrew H SinclairAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
John ChristodoulouAustralian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Kathryn N NorthAustralian 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.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

GenomicsHealth PolicyAustraliaDelivery of Health CareHumansRare Diseases

Identifiers

PMID36868206
PMCPMC10027474

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.