Evidence map›Paper›PMID 42303393›Full record

ArticleBMJ open2026

Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol.

Janet C Long, Alison D Archibald, Klay Lamprell, Belinda Dawson-McClaren, Claudine Kraan, Amanda Springer, Lisa Dive, Ainsley J Newson, Gabriel Watts, Isabella Holmes and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

30 authors.

Janet C LongFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia janet.long@mq.edu.au.ORCID http://orcid.org/0000-0002-0553-682X
Alison D ArchibaldFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.
Klay LamprellFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-5692-2368
Belinda Dawson-McClarenGenomics in Society, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Claudine KraanFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-1805-6339
Amanda SpringerFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.
Lisa DiveGraduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0001-6655-5138
Ainsley J NewsonSydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-3460-772X
Gabriel WattsSydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3421-5862
Isabella HolmesGraduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.
Henry CutlerFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.
Varinder JeetFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.
Alison TrainerDepartment of Genomic Medicine, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-9847-3265
Stephanie BestAustralian Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Martin DelatyckiVictorian Clinical Genetics Services, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
Edwin P KirkRandwick Genomics Laboratory, NSW Health Pathology, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-4662-0024
Nigel LaingHarry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Monica FerrieAdvocacy Beyond Borders, Melbourne, Victoria, Australia.
Lucinda FreemanSydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Simon WillcockMQ Health General Practice, Macquarie University, Sydney, New South Wales, Australia.
Samantha SpanosFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3734-3907
Lucy GilkesUWA Medical School, The University of Western Australia, Perth, Western Australia, Australia.
Julie CiniAdvocacy Beyond Borders, Melbourne, Victoria, Australia.
Samantha EdwardsHarry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Ruth LeibowitzDepartment of General Practice, The University of Melbourne, Melbourne, Victoria, Australia.
Janani MahadevaMQ Health General Practice, Macquarie University, Sydney, New South Wales, Australia.
Darran FooFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.
Kate ChurrucaFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9923-3116
Romika PatelFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0009-0000-6523-8798
Jeffrey BraithwaiteFaculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-0296-4957

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThis project will establish a nationally consistent and ethically defensible approach to embed genomic testing in Australian primary care. Many non-genetic health professionals (eg, general practitioners (GPs) and other specialists) have limited experience with such testing. Current tests-both subsidised and consumer-paid-target a range of genes and conditions, making appropriate selection challenging. A structured implementation approach is therefore crucial. We will develop, test, refine and evaluate internationally relevant tools to support GPs and consumers in using genomics effectively. METHODS AND ANALYSIS: Aims of the project are to (1) develop, implement and evaluate key supports for GPs offering tests through three interventions: primary health point-of-care resources, a practical guide to dealing with ethical issues affecting clinicians and established recommendations for a national approach for genetic counsellors to support GPs providing genetic testing; (2) develop and evaluate consumer resources and plan the implementation strategies; (3) evaluate real-world utilisation and equity of access to genetic testing in primary care using linked Medicare and population data.This project will focus on two genomic applications recently made available in Australia on the universal insurance scheme (Medicare): a reproductive genetic carrier screen (an example of the role of genetics in reproductive testing) and genetic testing for familial hypercholesterolaemia (an example of a condition-specific test). Both tests can be complex for GPs to understand and explain to consumers and have potential implications beyond the purpose of the test (eg, personal health implications for carriers and results are also relevant to genetic relatives). Developing a robust clinical pathway and process for these tests will prepare GPs for future more complex applications of clinical genomics. The study will take place from January 2024 to December 2026. ETHICS AND DISSEMINATION: Ethical approval for this work has been received from the Macquarie University Human Research Ethics Committee (Ref: 520241849560183) and the Royal Children's Hospital Research Ethics and Governance (HREC/112451). Findings will be disseminated via publications, conferences and engagement with primary care networks and policymakers.

Indexed as

General PractitionersGenetic TestingGenomicsPrimary Health CareAustraliaGenetic CounselingHumansResearch DesignGENETICSHealth ServicesImplementation ScienceMEDICAL ETHICSPrimary CarePrimary Health Care

Identifiers

PMID42303393
PMCPMC13289005

What OpenQuestion holds

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LicenceCC BY-NC
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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 OpenQuestion graph.