Parent Communication of BRCA1/2 Test Results to Children

描述(由申请者提供)：本申请是一个由国家人类基因组研究所的伦理、法律和社会影响研究计划资助的名为“父母沟通研究”(PCS)的项目的5年竞争性延续。PCS的目标是确定未成年儿童遗传性乳腺癌-卵巢癌风险(BRCA1/2基因)母亲基因检测结果的父母沟通比率，并对这些决定和结果进行表征。我们在最初拨款下的工作对父母的决策产生了几个新的见解，包括它的过程、相关性、预测者和短期影响。重要的是所获得的知识，即接受测试的母亲的决定是个人的，并以她们的价值观为指导。对于一些人来说，向孩子披露基因检测结果的信息被视为与保持家庭沟通的畅通有关。对于其他人来说，不披露信息被视为与保护儿童免受担忧和压力有关。这两种情况的共同之处是快速决策过程，在缺乏关于在各种情况下向儿童披露和不披露的潜在风险和好处的具体指导、教育和决策支持的情况下(例如，个人和家庭癌症病史、产妇携带者状况、儿童性别和认知成熟度)。我们认为，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和更知情的决定，这可能会导致更好的结果。为了实现这一目标，我们经验丰富的多学科团队计划开发和评估PCS II中为母亲提供的沟通决策辅助工具。我们将在多点随机对照试验的背景下进行这项工作。主要结果是决策冲突和满意度；次要结果包括向儿童披露信息的比率和亲子心理社会幸福感。参加测试前遗传咨询和BRCA1/2突变检测的母亲将被随机分配到干预条件下，其中包括理论上有根据的决策辅助以获得决策支持或比较条件；干预发生在咨询之后，但在母亲了解他们的基因测试结果之前。所有参与者将在测试后咨询后接受长达6个月的跟踪调查。PCS II将提供关于如何帮助母亲做出将癌症基因测试结果传达给年轻家庭成员的敏感决定的关键见解。随着对其他成人发病疾病的预测性基因测试变得越来越普遍，更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个新的范式，在其中观察和理解接受测试的父母和他们的未测试的孩子的预测性测试的心理社会结果。

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.