{
  "abstract": "Introduction This 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.",
  "authors": [
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Janet C Long"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Genomics in Society, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia",
        "Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Alison D Archibald"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Klay Lamprell"
    },
    {
      "affiliations": [
        "Genomics in Society, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia",
        "Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Belinda Dawson-McClaren"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Genomics in Society, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia",
        "Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Claudine Kraan"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Genomics in Society, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia"
      ],
      "name": "Amanda Springer"
    },
    {
      "affiliations": [
        "Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Lisa Dive"
    },
    {
      "affiliations": [
        "Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Ainsley J Newson"
    },
    {
      "affiliations": [
        "Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Gabriel Watts"
    },
    {
      "affiliations": [
        "Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Isabella Holmes"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Centre for the Health Economy, Australian Institute of Health Innovation, Macquarie University Business School, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Henry Cutler"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Centre for the Health Economy, Australian Institute of Health Innovation, Macquarie University Business School, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Varinder Jeet"
    },
    {
      "affiliations": [
        "Department of Genomic Medicine, The Royal Melbourne Hospital, Melbourne, Victoria, Australia",
        "Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Alison Trainer"
    },
    {
      "affiliations": [
        "Australian Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia",
        "Melbourne School of Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Stephanie Best"
    },
    {
      "affiliations": [
        "Victorian Clinical Genetics Services, The Royal Children’s Hospital Melbourne, Melbourne, Victoria, Australia",
        "Bruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia"
      ],
      "name": "Martin Delatycki"
    },
    {
      "affiliations": [
        "Randwick Genomics Laboratory, NSW Health Pathology, Sydney, New South Wales, Australia",
        "Centre for Clinical Genetics, Sydney Children’s Hospital Randwick, Sydney, New South Wales, Australia",
        "School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Edwin P Kirk"
    },
    {
      "affiliations": [
        "Harry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia"
      ],
      "name": "Nigel Laing"
    },
    {
      "affiliations": [
        "Advocacy Beyond Borders, Melbourne, Victoria, Australia"
      ],
      "name": "Monica Ferrie"
    },
    {
      "affiliations": [
        "Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Lucinda Freeman"
    },
    {
      "affiliations": [
        "MQ Health General Practice, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Simon Willcock"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Samantha Spanos"
    },
    {
      "affiliations": [
        "UWA Medical School, The University of Western Australia, Perth, Western Australia, Australia"
      ],
      "name": "Lucy Gilkes"
    },
    {
      "affiliations": [
        "Advocacy Beyond Borders, Melbourne, Victoria, Australia"
      ],
      "name": "Julie Cini"
    },
    {
      "affiliations": [
        "Harry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia"
      ],
      "name": "Samantha Edwards"
    },
    {
      "affiliations": [
        "Department of General Practice, The University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Ruth Leibowitz"
    },
    {
      "affiliations": [
        "MQ Health General Practice, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Janani Mahadeva"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia",
        "Health Direct Australia, Sydney, New South Wales, Australia"
      ],
      "name": "Darran Foo"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Kate Churruca"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Romika Patel"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Human Sciences, Macquarie University Australian Institute of Health Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Jeffrey Braithwaite"
    }
  ],
  "title": "Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol",
  "uid": "86827111-9dc4-5ad3-81f7-c4e79037b481"
}