{
  "abstract": "Introduction Genomic testing allows for the identification of disease-causing genetic variants and may also reveal secondary findings (SF) unrelated to the reason for testing. As the list of medically actionable genes continues to grow, it is important to understand the impact of these findings on clinical care and patient experience, particularly in paediatric settings. This work will generate novel evidence on the clinical, patient, family and system impacts of medically actionable SF generated from genomic testing.Methods and analysis This mixed-methods, prospective, observational study will describe the impacts of SF on clinical care and the patient and family experience. Participants include probands and/or parents of probands who receive SF (ie, cases), clinicians involved in managing their care and controls matched 2:1 to cases based on age group, phenotype and primary genomic testing result. We aim to enrol 50 cases and 100 controls among those who receive genomic testing through Genome-wide Sequencing Ontario or other local sequencing initiatives in Ontario, Canada. Clinicians involved in follow-up care will complete questionnaires related to risk assessment, medical recommendations and clinical utility of SF post-result disclosure and one year later. Patient questionnaires will record health service use and psychological outcomes (ie, personal utility, empowerment) every 6 months for 2 years. These data will be compared between cases and controls using parametric tests. Cases will be invited to a qualitative interview to learn about their experiences. Data will be analysed using quantitative and qualitative techniques, triangulating datasets to enhance the validity and depth of the findings.Ethics and dissemination This study is approved by the Clinical Trials Ontario (CTO) Research Ethics Review System (REB# CTO 3655). We plan to present our results to academic, patient, clinician and decision-maker audiences through articles and presentations at provincial, national and international meetings.",
  "authors": [
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada",
        "The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Daniel Assamad"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Abigail Hansen"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Katharine Fooks"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Stephanie Luca"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Viji Venkataramanan"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Erin Hsue"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Salma Shickh"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Joyce Yan"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada"
      ],
      "name": "Vercancy Wu"
    },
    {
      "affiliations": [
        "Kingston Health Sciences Centre, Kingston, Ontario, Canada",
        "Department of Paediatrics, School of Medicine, Queen’s University, Kingston, Ontario, Canada"
      ],
      "name": "Lauren Badalato"
    },
    {
      "affiliations": [
        "Division of Genetics, Department of Paediatrics, Western University, London, Ontario, Canada"
      ],
      "name": "Tugce B Balci"
    },
    {
      "affiliations": [
        "Division of Cardiology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada",
        "Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Virginie Beausejour Ladouceur"
    },
    {
      "affiliations": [
        "Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada",
        "Department of Bioethics, The Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Lauren Chad"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada"
      ],
      "name": "Caitlin Chisholm"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada",
        "Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"
      ],
      "name": "Meredith K Gillespie"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada"
      ],
      "name": "Lijia Huang"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada"
      ],
      "name": "Olga Jarinova"
    },
    {
      "affiliations": [
        "Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Lynette Lau"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada",
        "The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Whiwon Lee"
    },
    {
      "affiliations": [
        "Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Michael P Mackley"
    },
    {
      "affiliations": [
        "Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Christian R. Marshall"
    },
    {
      "affiliations": [
        "Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Roberto Mendoza-Londono"
    },
    {
      "affiliations": [
        "Department of Medicine, Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada"
      ],
      "name": "Chantal F Morel"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada",
        "Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"
      ],
      "name": "Julie Richer"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada"
      ],
      "name": "Sarah Sawyer"
    },
    {
      "affiliations": [
        "Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Dimitri J Stavropoulos"
    },
    {
      "affiliations": [
        "Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada",
        "Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Anna Szuto"
    },
    {
      "affiliations": [
        "Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada",
        "Department of Medicine, McMaster University, Hamilton, Ontario, Canada"
      ],
      "name": "Mark Tarnopolsky"
    },
    {
      "affiliations": [
        "Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada",
        "Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Anita Villani"
    },
    {
      "affiliations": [
        "Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Laura Zahavich"
    },
    {
      "affiliations": [
        "Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Martin J Somerville"
    },
    {
      "affiliations": [
        "Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada",
        "Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"
      ],
      "name": "Kym M Boycott"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada",
        "The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Wendy J Ungar"
    },
    {
      "affiliations": [
        "Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada",
        "The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Robin Z Hayeems"
    }
  ],
  "title": "Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study",
  "uid": "8208c10f-87dc-507e-8a45-1a2e97e60bd1"
}