Health care system-led familial risk notification: design and ethical assessment

医疗保健系统主导的家庭风险通知：设计和伦理评估

• 批准号: 9974558
• 负责人: Nora B Henrikson
• 金额: $ 49.46万
• 依托单位: KAISER FOUNDATION RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-20 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9974558
• 关键词: Address; BRCA1 gene; Caring; Clinical; Communication; Computerized Medical Record; Consent; Data; Educational workshop; Ethicists; Ethics; Evaluation; Family; Family member; Feasibility Studies; Foundations; Future; Generations; Genetic; Genetic Counseling; Genetic Services; Health system; Healthcare Systems; Hereditary Nonpolyposis Colorectal Neoplasms; Human; Institution; Integrated Health Care Systems; Interview; Learning; Link; Logistics; Medical Genetics; Methods; Modeling; Mutation; Notification; Outcome; Outcome Assessment; Pathogenicity; Patients; Persons; Procedures; Process; Prospective cohort; Provider; Public Health; Randomized; Relative Risks; Risk; Sampling; Scholarship; Scientist; Surveys; System; Techniques; Test Result; Testing; United States; Variant; Washington; Work; actionable mutation; base; behavior test; care seeking; clinical care; cognitive interview; comparison group; design; follow-up; genetic testing; iterative design; member; outreach; preference; proband; prospective; satisfaction; screening; social; social implication; treatment as usual

PROJECT SUMMARY/ABSTRACT BACKGROUND. Genetic testing has a multigenerational impact, as actionable pathogenic variants can identify multiple family members at risk. Currently in the United States, a person at actionable risk through genetic testing is responsible for contacting their own family members and communicating risk. However, incomplete or non-disclosure to relatives is prevalent, and up to a third of at-risk relatives who may have actionable genetic findings go un-notified. Despite preliminary data suggesting that genetic testing patients are open to having their health system directly contact relatives who receive care in the same system to notify them of their potential risk, how such outreach would work in practice is not well understood and represents a critical gap. METHODS. We will conduct a human-centered design and feasibility study of health system-led familial outreach and risk notification. All project activities will be guided by ethical frameworks of learning healthcare systems, clinical care, and public health, as well as by emerging scholarship on relational conceptualizations of autonomy and clinicians' fiduciary obligations to patients and families in genetic services. The first aim will use qualitative human centered design methods to ascertain the needs of patients, their relatives, and clinical and health system stakeholders. We will conduct two rounds of design workshops using future workshop and nominal group techniques with probands and their relatives; and finalize the design with clinician and organizational stakeholders. The product of this aim will be a set of generalizable requirements for use by ours and other health systems engaged in direct outreach to relatives. In the second aim, we will test the outreach process in a limited prospective sample of relatives. We will implement the workflow designed in Aim 1 with a prospective cohort of health system members receiving actionable results from testing for BRCA1/2 or Lynch syndrome. We will identify each consenting proband's genetic relatives who are members of the same health system. Consenting relatives will be randomly assigned to either the outreach process designed in Aim 1, or to no further outreach. We will use the proband as the unit of randomization to allow for clustering within family, and stratify randomization on BRCA or Lynch testing. OUTCOME ASSESSMENT. Using a combination of in-depth cognitive interviews and survey, feasibility outcomes assessed will include acceptability of the process, satisfaction with care and with treatment/testing decisions, impact of direct outreach on family communications, actions taken after notification, and any unintended consequences. We will assess limited efficacy of direct outreach in increasing use of genetic counseling and testing in relatives who received direct outreach compared to those who did not at 6-8 weeks.

项目概要/摘要 背景。基因检测具有多代影响，因为可操作的致病变异可以 识别多个有风险的家庭成员。目前在美国，一个人面临可诉风险 基因检测负责联系自己的家人并传达风险。然而， 不完整或不向亲属披露信息的情况很普遍，多达三分之一的高危亲属可能患有 可操作的基因发现没有被通知。尽管初步数据表明基因检测患者 愿意让其卫生系统直接联系在同一系统中接受护理的亲属以进行通知 尽管他们意识到了潜在的风险，但这种外展活动在实践中如何发挥作用还没有得到很好的理解，并且代表了一种 关键差距。 方法。我们将对卫生系统主导的家庭进行以人为本的设计和可行性研究 外展和风险通知。所有项目活动都将以学习医疗保健的道德框架为指导 系统、临床护理和公共卫生，以及关于相关概念化的新兴学术 遗传服务中的自主权和临床医生对患者和家庭的信托义务。 第一个目标将使用以人为本的定性设计方法来确定患者的需求、他们的需求 亲属以及临床和卫生系统利益相关者。我们将使用以下方式举办两轮设计研讨会 与先证者及其亲属的未来研讨会和名义团体技术；并最终确定设计 临床医生和组织利益相关者。这一目标的产物将是一组通用的要求 我们的卫生系统和其他直接接触亲属的卫生系统使用。 在第二个目标中，我们将在有限的亲属前瞻性样本中测试外展过程。我们将 实施目标 1 中设计的工作流程，让一组接受治疗的卫生系统成员参与其中 BRCA1/2 或林奇综合征检测的可操作结果。我们将确定每个同意先证者的 属于同一卫生系统的遗传亲属。同意的亲属将被随机分配 要么进行目标 1 中设计的外展流程，要么不再进行进一步的外展。我们以先证者为单位 随机化以允许在家庭内进行聚类，并对 BRCA 或 Lynch 测试进行分层随机化。 结果评估。结合深入的认知访谈和调查，可行性 评估的结果将包括过程的可接受性、护理和治疗/测试的满意度 决定、直接外联对家庭沟通的影响、通知后采取的行动以及任何 意想不到的后果。我们将评估直接推广在增加遗传资源使用方面的有限功效。 在 6-8 周时，对接受直接外展的亲属与未接受直接外展的亲属进行咨询和测试。