{
  "abstract": "Introduction People with intellectual disability face significant barriers to accessing genetic healthcare, including during appointments. Many adults with intellectual disability are denied opportunities to discuss genetic testing that could improve their health and well-being. This study follows best practice in inclusive research, with co-researchers with intellectual disability co-leading alongside educational, disability and clinical experts to co-design and implement a respectful, accessible and inclusive national model of genetic healthcare.Methods and analysis This three-phase qualitative study positions people with intellectual disability as active researchers and partners throughout. Phase 1 will identify barriers and enablers to genetic healthcare for people with intellectual disability by engaging with approximately 100 participants—people with intellectual disability (with and without genetic testing experience), families/support people and genetic healthcare professionals—through interviews, focus groups, arts-based methods and yarning circles. Phase 2 will co-design and evaluate Guiding Principles, providing solutions to identified barriers and leveraging identified facilitators. Phase 3 will develop practical resources using workshops across Australia, guided by three Community Engagement Groups, including people with intellectual disability, families/support people and healthcare providers. This phase will also investigate strategies to optimise the national roll-out and implementation of resources among health professionals, people with intellectual disability and their families/carers. Aboriginal and Torres Strait Islander research methods are integrated throughout, led by Indigenous researchers.Ethics and dissemination Ethics approval has been granted by UNSW Sydney Human Research Ethics Committee (HC230353) and the Australian Institute of Aboriginal and Torres Strait Islander Studies (REC-0284). Participants will provide written consent using Easy Read or plain English materials. Findings will be disseminated through journal articles, conferences, websites and accessible formats, including Easy Read summaries and videos.See the Graphical Abstract for a visual summary in online supplemental file 1",
  "authors": [
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia",
        "University of New South Wales Disability Innovation Institute, Sydney, New South Wales, Australia",
        "Self Advocacy Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Iva Strnadová"
    },
    {
      "affiliations": [
        "Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Michelle Tso"
    },
    {
      "affiliations": [
        "Self Advocacy Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Julie Loblinzk Refalo"
    },
    {
      "affiliations": [
        "Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Natalie Roberts"
    },
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Joanne Danker"
    },
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia",
        "Self Advocacy Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Skie Sarfaraz"
    },
    {
      "affiliations": [
        "Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Genetics of Learning Disability Service, Waratah, New South Wales, Australia"
      ],
      "name": "Jackie Boyle"
    },
    {
      "affiliations": [
        "St Vincent’s Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Centre for Population Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia",
        "Australian Genomics, Melbourne, Victoria, Australia"
      ],
      "name": "Bronwyn Terrill"
    },
    {
      "affiliations": [
        "NSW Ministry of Health, St Leonards, New South Wales, Australia"
      ],
      "name": "Celia Halliburton"
    },
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia",
        "Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Claudia Pantoja Mardones"
    },
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Sarah Hayes"
    },
    {
      "affiliations": [
        "School of Education, University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Sam Hurd"
    },
    {
      "affiliations": [
        "Central Queensland University, Brisbane, Queensland, Australia"
      ],
      "name": "Caitlin King"
    },
    {
      "affiliations": [
        "Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, New South Wales, Australia"
      ],
      "name": "Kristine Barlow-Stewart"
    },
    {
      "affiliations": [
        "Psychologist in private practice, Sydney, New South Wales, Australia"
      ],
      "name": "Elizabeth Evans"
    },
    {
      "affiliations": [
        "The University of Western Australia, Perth, Western Australia, Australia",
        "The Kids Research Institute Australia, Nedlands, Western Australia, Australia"
      ],
      "name": "Helen Leonard"
    },
    {
      "affiliations": [
        "Genetic Health Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Helen Mar Fan"
    },
    {
      "affiliations": [
        "Genetic Health Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Jonathan Rodgers"
    },
    {
      "affiliations": [
        "Primary and Community Health, Northern Sydney Local Health District, St Leonards, New South Wales, Australia"
      ],
      "name": "Yvette Vella"
    },
    {
      "affiliations": [
        "Genetic Health Queensland, Brisbane, Queensland, Australia",
        "School of Medicine, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Julie McGaughran"
    },
    {
      "affiliations": [
        "University of Melbourne, Melbourne, Victoria, Australia"
      ],
      "name": "Stephanie Best"
    },
    {
      "affiliations": [
        "University of Technology Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Erin Turbitt"
    },
    {
      "affiliations": [
        "University of New South Wales Disability Innovation Institute, Sydney, New South Wales, Australia"
      ],
      "name": "Jackie Leach Scully"
    },
    {
      "affiliations": [
        "Central Queensland University, Brisbane, Queensland, Australia"
      ],
      "name": "Greg Pratt"
    },
    {
      "affiliations": [
        "Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia",
        "Centre for Clinical Genetics, Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia"
      ],
      "name": "Elizabeth E Palmer"
    }
  ],
  "title": "Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability",
  "uid": "35777e32-fb28-5432-a03f-575a547830cc"
}