Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092.
Genomic sequencing has rapidly transitioned into clinical practice, improving diagnosis and treatment options for patients with hereditary disorders. However, large-scale implementation of genomic sequencing faces challenges, especially with regard to the return of incidental results, which refer to genetic variants uncovered during testing that are unrelated to the primary disease under investigation, but of potential clinical significance. High-quality evidence evaluating health outcomes and costs of receiving incidental results is critical for the adoption of genomic sequencing into clinical care and to understand the unintended consequences of adoption of genomic sequencing. We aim to evaluate the health outcomes and costs of receiving incidental results for patients undergoing genomic sequencing.
We will compare health outcomes and costs of receiving, versus not receiving, incidental results for adult patients with cancer undergoing genomic sequencing in a mixed-methods randomised controlled trial. Two hundred and sixty patients who have previously undergone first or second-tier genetic testing for cancer and received uninformative results will be recruited from familial cancer clinics in Toronto, Ontario. Participants in both arms will receive cancer-related results. Participants in the intervention arm have the option to receive incidental results. Our primary outcome is psychological distress at 2 weeks following return of results. Secondary outcomes include behavioural consequences, clinical and personal utility assessed over the 12 months after results are returned and health service use and costs at 12 months and 5 years. A subset of participants and providers will complete qualitative interviews about utility of incidental results.
This study has been approved by Clinical Trials Ontario Streamlined Research Ethics Review System that provides ethical review and oversight for multiple sites participating in the same clinical trial in Ontario.Results from the trial will be shared through stakeholder workshops, national and international conferences, and peer-reviewed journals.
NCT03597165.
基因组测序已迅速应用于临床实践，改善了遗传性疾病患者的诊断和治疗选择。然而，大规模实施基因组测序面临挑战，尤其是偶然结果的回报，这是指在测试过程中发现的与正在研究的主要疾病无关但具有潜在临床意义的遗传变异。评估偶然结果对健康的影响和成本的高质量证据对于将基因组测序纳入临床护理以及了解采用基因组测序的意外后果至关重要。我们旨在评估接受基因组测序的患者偶然结果的健康结果和成本。
我们将在一项混合方法随机对照试验中，比较接受和不接受偶然结果的癌症患者的健康结果和成本。将从安大略省多伦多的家族性癌症诊所招募 260 名以前接受过癌症一级或二级基因检测且结果无信息的成年癌症患者。两组参与者都将收到与癌症相关的结果。干预组的参与者可以选择接收偶然结果。我们的主要结局是在结果返回后 2 周的心理困扰。次要结局包括行为后果、返回结果后 12 个月的临床和个人效用评估以及 12 个月和 5 年后的健康服务使用和成本。一部分参与者和提供者将完成关于偶然结果效用的定性访谈。
这项研究已经得到了临床试验安大略省简化研究伦理审查系统的批准，该系统为安大略省参与同一临床试验的多个站点提供伦理审查和监督。试验结果将通过利益相关者研讨会、国家和国际会议以及同行评议期刊进行分享。
NCT03597165。
