{
  "abstract": "Introduction Advances in clinical genomics have raised the importance of integrating genomic medicine across healthcare systems, including primary care. Primary care presents an ideal environment to offer equitable and efficient access to genetic services. Familial hypercholesterolaemia (FH) is a preventable and treatable cause of premature heart disease and represents a health condition that can be successfully diagnosed and managed in primary care. This study describes a process for tailoring a primary-tertiary shared care model for FH to optimise health professional and patient engagement.Methods Data were collected through semistructured interviews (n=10) with stakeholders in New South Wales, Australia. Interviews gathered feedback on how to tailor a shared care model for FH between tertiary and primary care services. Reflexive thematic analysis was used to analyse interview transcripts.Results Analysis generated three main themes: (1) current process for genetic testing and management, (2) challenges with genetic testing for FH in primary care and (3) components needed to enable a tertiary-initiated shared care model. Participants considered the model of care acceptable and could be successfully implemented, provided key supports were in place to assist general practitioners. Based on these results, a process model for integrating genetic testing for other conditions into primary care settings was developed, using FH as an exemplar.Conclusion The process model for tailoring of a primary-tertiary model of care for FH can be applied across a range of primary care services and treatable genetic conditions.",
  "authors": [
    {
      "affiliations": [
        "School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Implementation Science Academy, Sydney Health Partners, Sydney, New South Wales, Australia"
      ],
      "name": "Karen L Birkenhead"
    },
    {
      "affiliations": [
        "Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia",
        "Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "David Sullivan"
    },
    {
      "affiliations": [
        "Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia"
      ],
      "name": "Madeline Calder"
    },
    {
      "affiliations": [
        "Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia"
      ],
      "name": "Catherine Spinks"
    },
    {
      "affiliations": [
        "Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia"
      ],
      "name": "Gabrielle Fleming"
    },
    {
      "affiliations": [
        "Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia"
      ],
      "name": "Claire Trumble"
    },
    {
      "affiliations": [
        "School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Cameron Hemmert"
    },
    {
      "affiliations": [
        "Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia",
        "Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Ronald Trent"
    },
    {
      "affiliations": [
        "Institute of Endocrinology and Diabetes, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia",
        "Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Shubha Srinivasan"
    },
    {
      "affiliations": [
        "Clinical Genetics Network and Ophthalmology Network, Agency for Clinical Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Kerrie Martin"
    },
    {
      "affiliations": [
        "Cardiac Network, Agency for Clinical Innovation, Sydney, New South Wales, Australia"
      ],
      "name": "Bridie Carr"
    },
    {
      "affiliations": [
        "School of Medicine, University of Notre Dame Australia, Sydney, New South Wales, Australia"
      ],
      "name": "Charlotte M Hespe"
    },
    {
      "affiliations": [
        "School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Implementation Science Academy, Sydney Health Partners, Sydney, New South Wales, Australia"
      ],
      "name": "Mitchell Sarkies"
    }
  ],
  "title": "Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder",
  "uid": "d166800d-779b-5bca-8ca4-1edd46c04166"
}