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

项目摘要/摘要 背景资料。基因检测具有多代影响，就像可操作的致病变种一样 确定多个有风险的家庭成员。目前在美国，处于可起诉风险的人通过 基因检测负责联系自己的家人并传达风险。然而， 不完全或不向亲属披露的情况很普遍，高达三分之一的高危亲属可能有 可起诉的基因发现不会被通知。尽管初步数据表明基因检测患者 愿意让他们的医疗系统直接联系在同一系统中接受护理的亲属通知 他们的潜在风险，这种宣传在实践中如何发挥作用并不是很好的理解，并且代表着一种 关键差距。 方法：研究方法。我们将进行以人为本的设计和可行性研究，以卫生系统为主导的家庭 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，以及新兴的关系概念化学术 自主性和临床医生在基因服务中对患者和家属的受托义务。 第一个目标将使用定性的以人为中心的设计方法来确定患者的需求，他们的 亲属，以及临床和卫生系统利益攸关方。我们将举办两轮设计工作坊，使用 未来与先证者及其亲属的研讨会和名义上的小组技术；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可概括的要求 我们的卫生系统和其他与亲属直接接触的卫生系统使用的。 在第二个目标中，我们将在有限的预期亲属样本中测试外展过程。我们会 实施目标1中设计的工作流程，并让未来的卫生系统成员接受 BRCA1/2或林奇综合征检测的可操作结果。我们会找出每个同意的先证者 是同一卫生系统成员的血缘亲属。同意的亲属将被随机分配 要么是目标1中设计的外联进程，要么是不再进行外联。我们将以先证者为单位 随机化以允许在家庭内进行分组，并对BRCA或Lynch测试进行分层随机化。 结果评估。采用深度认知访谈和调查相结合的方法，可行性 评估的结果将包括过程的可接受性、对护理和治疗/检测的满意度 决定，直接外展对家庭沟通的影响，通知后采取的行动，以及任何 意想不到的后果。我们将评估直接外展在增加遗传基因使用方面的有限效果 在6-8周时，接受过直接外展的亲属与没有接受过外展的亲属进行咨询和测试。

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.