Parent Communication of BRCA1/2 Test Results to Children

描述（由申请人提供）：本申请是由美国国家人类基因组研究所伦理、法律和社会影响研究项目“父母沟通研究”（PCS）最初资助的一个为期5年的竞争性延续项目。PCS的目的是确定父母向未成年儿童传达遗传性乳腺癌风险（BRCA1/2基因）的母亲基因检测结果的比率，并描述这些决定和结果。在最初的资助下，我们的工作对父母的决策产生了一些新的见解，包括决策的过程、相关因素、预测因素和短期影响。重要的是，我们从中了解到，接受测试的母亲的决定是个人的，是由她们的价值观所指导的。对一些人来说，向孩子透露有关基因检测结果的信息被视为与保持家庭沟通的畅通有关。对其他人来说，不透露信息被认为是为了保护孩子免受担忧和压力。这两种情况的共同点是，在缺乏具体指导、教育和决策支持的情况下（例如，个人和家庭癌症史、母亲携带者状况、儿童性别和认知成熟度）对儿童披露和不披露的潜在风险和益处的快速决策过程。我们相信，我们研究的下一步是开始帮助父母在沟通方面做出更有效、更明智的决定，这可能会带来更好的结果。为了实现这一目标，我们经验丰富的多学科团队计划为PCS II的母亲开发和评估沟通决策辅助工具。我们将在多地点随机对照试验的背景下进行这项研究。主要结果是决策冲突和满意度；次要结果包括向儿童披露的比率和亲子心理社会健康。参与测试前遗传咨询和BRCA1/2突变检测的母亲将被随机分配到一个干预条件，包括一个理论基础的决策辅助决策支持或一个比较条件；干预在咨询之后进行，但在母亲得知自己的基因检测结果之前进行。所有参与者将在测试后咨询后进行长达6个月的随访。PCS II将提供关键的见解，如何帮助母亲做出敏感的决定，将癌症基因检测结果传达给年轻的家庭成员。随着对其他成人发病疾病进行预测性基因检测的普及，越来越多的父母将面临类似的决定。在这一领域产生的发现提供了一种新的范式，在这种范式中，可以观察和理解预测性测试在接受测试的父母及其未接受测试的孩子之间的社会心理结果。

DESCRIPTION (provided by applicant): This application is for a 5-year competitive continuation of a project originally funded by the National Human Genome Research Institute's Ethical, Legal, and Social Implications Research Program entitled the "Parent Communication Study" (PCS). The goals of PCS were to determine rates of parent communication about maternal genetic test results for hereditary breast-ovarian cancer risk (BRCA1/2 genes) to minor-age children, and to characterize these decisions and outcomes. Our work under the original grant generated several novel insights into parents' decision making, including its processes, correlates, predictors, and short-term effects. Of importance is the knowledge gained that tested mothers' decisions are personal and guided by their values. For some, disclosing information about genetic test results to children is viewed in relation to maintaining open lines of family communication. For others, not disclosing information is viewed in relation to protecting children against worry and stress. Common to both scenarios is a rapid decision making process that takes place in the absence of specific guidance, education, and decision support about the potential risks and benefits of disclosure and nondisclosure to children under various conditions (e.g., personal and family cancer history, maternal carrier status, child gender and cognitive maturity). We believe the next step in our line of research is to begin to assist parents in making more effective and informed decisions about communication which may lead to better outcomes. To accomplish this aim, our experienced and multidisciplinary team plans to develop and evaluate a communication decision aid for mothers in PCS II. We will do this in the context of a multisite randomized controlled trial. The primary outcomes are decision conflict and satisfaction; secondary outcomes include rates of disclosure to children and parent-child psychosocial well-being. Mothers participating in pretest genetic counseling and testing for BRCA1/2 mutations will be randomly allocated to an intervention condition consisting of a theoretically-grounded decision aid for decision support or to a comparison condition; intervention takes place after counseling but prior to mothers learning about their genetic test results. All participants will be followed for up to 6-months after post-test counseling. PCS II will offer key insights into how to assist mothers with sensitive decisions about communicating cancer genetic test results to young family members. As predictive genetic testing for other adult-onset diseases becomes more widespread, greater numbers of parents will face similar decisions. Findings generated in this area offer a new paradigm within which to view and understand the psychosocial outcomes of predictive testing among tested parents and their nontested children.