Families At Risk: Long-term Impact of Huntington's Presymptomatic Genetic Testi

面临风险的家庭：亨廷顿舞蹈症症状前基因测试的长期影响

• 批准号: 8767379
• 负责人: DEBRA JH MATHEWS
• 金额: $ 28.35万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-08-15 至 2019-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8767379
• 关键词: 4p16.3; Adult; Benefits and Risks; Child; Chromosomes; Chromosomes, Human, Pair 4; Clinical; DNA; Disease; Family; Family member; Feeling; Focus Groups; Genes; Genetic; Genetic Polymorphism; Genetic screening method; Genomics; Guidelines; Hereditary Disease; Huntington Disease; Individual; Interview; Learning; Life; Maps; Modeling; Neurodegenerative Disorders; Outcomes Research; Policies; Procedures; Research; Risk; Spouses; Staging; Surveys; Test Result; Testing; Thinking; Time; United States; Work; career; clinical care; cohort; coping; design; early experience; exome sequencing; experience; genome sequencing; improved; member; programs; public health relevance

DESCRIPTION (provided by applicant): Huntington's disease (HD) has for decades served as a model for how we think about genetic testing, and its benefits and risks for tested individuals and their families. In 1983, the gene for HD was mapped to chromosome 4, allowing linkage tests to be developed for use in presymptomatic genetic testing for HD. In 1986, Johns Hopkins launched one of the first two such testing programs in the United States. This work influenced guidelines for the provision of HD genetic test results, which have subsequently influenced contemporary guidance for other adult-onset neurodegenerative diseases. This early experience also arguably influenced our collective thinking about many issues related to genetic testing and the provision of genetic test results. Almost 30 years later, we are still in contact wth many members of this early cohort. As increasing numbers of genetic tests are being used to predict adult-onset neurodegenerative disease, and as large-scale genetic testing is increasingly integrated into clinical care, it is critical that we understand not only the implicatons of presymptomatic testing for the at-risk individual over several years, but also for the at-risk individual and her/his family over the course of their lives. Here, we have a unique opportunity to take a retrospective look over decades at how at-risk individuals and their families communicate about and cope with test results not months or years following testing, but decades following testing. We will do this through in-depth interviews with a subset of those at-risk individuals who were tested between 1986 and 1996, focus groups with a subset of family members of tested individuals, and a survey sent to all at-risk individuals who were tested from 1986 to 1996 and their family members. The outcomes of this research will improve our understanding of how the results of genetic testing for serious, currently incurable disease are communicated in and through families, how this information influences choices (e.g., career, participation in research, having children) and trajectories of at-risk individuals and their families over decades, and will help inform policies and procedures for communicating such results. Under Specific Aim 1, we will explore the impact of presymptomatic genetic testing for Huntington's disease (HD) on the lives and choices of at-risk individuals, 18-28 years after testing. Under Specific Aim 2, we will build on prior work with this cohort to determine longitudinal changes in individuals' feelings about and understanding of their testing experience as they have progressed through life's stages. Under Specific Aim 3, we will explore the impact of presymptomatic genetic testing for HD on family members (spouses, partners, children) of tested individuals, 18-28 years after testing. Under Specific Aim 4, we will build on the results of Aims 1-3 to explore how the views of individuals and their families comport with the current paradigms and policy for the conduct of clinical genetic and genomic testing.

描述（由申请人提供）：数十年来，亨廷顿氏病（HD）一直是我们如何看待基因检测及其对经过测试的个人及其家人的好处和风险的模型。 1983年，将HD的基因映射到4号染色体，从而可以开发用于用于HD的预症状基因测试的连锁测试。 1986年，约翰·霍普金斯（Johns Hopkins）在美国启动了前两个这样的测试计划之一。这项工作影响了提供HD基因测试结果的准则，后来影响了当代针对其他成人神经退行性疾病的当代指南。早期的经历也可以说，我们对与基因检测有关的许多问题以及提供基因检测结果的许多问题。大约30年后，我们仍在联系这个早期队列的许多成员。 随着越来越多的遗传检测用于预测成人神经退行性疾病，并且随着大规模的基因检测越来越多地整合到临床护理中，至关重要的是，我们至关重要的是，我们不仅要了解几年来对处于危险的人的含义性测试的含义，而且对处于危险的人和他/他的家庭中的生活中也是如此。在这里，我们有一个独特的机会 几十年来，请回顾一下，高危个人及其家人如何在测试后几个月或几年来沟通并应对测试结果，而是在测试后数十年。我们将通过与那些处于危险中的个人的深入访谈来做到这一点 在1986年至1996年之间进行了测试，焦点小组拥有一部分经过测试的人的家庭成员，以及一项调查发送给1986年至1996年接受测试的所有高危个人及其家人。这项研究的结果将提高我们对严重，目前无法治愈的疾病的基因检测结果如何在家庭中和家庭中传达的理解，这些信息如何影响选择（例如，职业，参与研究，参与研究， 生孩子）和高危个人及其家人的轨迹数十年，并将有助于为传达这种结果的政策和程序提供信息。 在特定的目标1下，我们将探讨在测试后18-28年的亨廷顿氏病（HD）对亨廷顿氏病（HD）的生活和选择的影响。在特定的目标2下，我们将以与该队列的先前工作为基础，以确定个人对他们的测试经历的纵向变化，因为他们在生活阶段的发展。在特定的目标3下，我们将探讨测试后18 - 28年的预测遗传测试对测试个体的家庭成员（配偶，伴侣，子女）的影响。在特定目标4下，我们将基于目标1-3的结果，以探讨个人及其家人的观点如何与当前的范式和进行临床遗传和基因组检测的政策相提并论。