Disclosure of Genetic Risk for Alzheimer's Disease

阿尔茨海默病遗传风险的披露

• 批准号: 7281226
• 负责人: Scott ROBERTS
• 金额: $ 6.71万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-01 至 2008-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7281226
• 关键词: Affect; Alzheimer' s Disease; Alzheimer' s disease risk; Apolipoprotein E; Audiotape; Behavioral; Caring; Characteristics; Client satisfaction; Clinical; Clinical Trials; Clinical Trials Design; Code; Communication; Complex; Counseling; Development; Disclosure; Disease; Disease susceptibility; Distress; Education; First Degree Relative; Funding; Genes; Genetic; Genetic Counseling; Genetic Polymorphism; Genetic Risk; Genetic Translation; Genetic screening method; Genomics; Genotype; Goals; Health; Health Status; Health behavior change; Human Genome Project; Measures; Medical; Methods; Negative Test Result; Outcome; Participant; Patient Education; Patients; Perception; Phase; Physicians; Positive Test Result; Predisposition; Process; Professional counselor; Protocols documentation; Provider; Psychological Impact; Race; Randomized; Randomized Clinical Trials; Research; Research Design; Resources; Risk; Risk Factors; Role; Roter; Sampling; Site; Systems Analysis; Testing; Translating; base; design; education evaluation; genetic risk assessment; health literacy; human disease; innovation; literate; novel; parent grant; patient oriented; programs; psychologic; psychosocial; satisfaction; social

DESCRIPTION (provided by applicant): Understanding how people respond to genetic risk information will be critical in allowing discoveries from genomic research to be effectively translated into clinical care. Alzheimer's disease (AD), for which one form of the apolipoprotein E (APOE) genotype serves as a significant risk factor, provides an instructive paradigm in which to examine the process and impact of genetic testing for a common, complex disease. The parent grant in this application, the NHGRI/NIA-funded Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study, is a multi-site, randomized clinical trial of a genetic counseling and education program that includes disclosure of APOE genotype information. This clinical trial examines the psychological and behavioral impact of the counseling and education program on a racially diverse sample of first-degree relatives of people with AD. We will expand upon the already novel design and content of the REVEAL Study through several methodological innovations. First, we will use the Roter Interaction Analysis System (RIAS) coding method to analyze over 225 audiotaped REVEAL risk disclosure sessions. The RIAS has been utilized successfully in many clinical contexts but has never been applied to actual genetic risk disclosure sessions. Its use will permit for rigorous analysis of the process of risk disclosure for AD susceptibility. Second, we will examine physicians as providers of risk disclosure, in order to explore provider differences in provision of genetic risk assessment. Given these additions to the REVEAL Study design, we will be able to: 1) examine how the quality of provider-patient interactions during risk disclosure sessions predicts key patient and provider outcomes following genetic risk assessment; 2) examine differences in provider-patient interactions between risk disclosure sessions in which negative vs. positive test results for the APOE-e4 genotype are disclosed; and 3) explore differences in provider-patient interactions based on both patient and provider characteristics (e.g., race, provider profession). Study findings will inform the development and implementation of genetic risk assessment programs across numerous disease contexts.

描述（由申请人提供）：了解人们如何应对遗传风险信息对于将基因组研究的发现有效转化为临床护理至关重要。阿尔茨海默氏病 (AD) 的一种形式的载脂蛋白 E (APOE) 基因型是一种重要的危险因素，它提供了一个指导性范例，用于检查基因检测对一种常见、复杂疾病的过程和影响。本申请中的家长资助是 NHGRI/NIA 资助的阿尔茨海默病风险评估和教育 (REVEAL) 研究，是一项遗传咨询和教育计划的多中心、随机临床试验，其中包括披露 APOE 基因型信息。这项临床试验研究了咨询和教育计划对 AD 患者一级亲属的不同种族样本的心理和行为影响。我们将通过一些方法创新来扩展 REVEAL 研究已经新颖的设计和内容。首先，我们将使用 Roter 交互分析系统 (RIAS) 编码方法来分析超过 225 个录音 REVEAL 风险披露会话。 RIAS 已在许多临床环境中成功使用，但从未应用于实际的遗传风险披露会议。它的使用将允许对 AD 易感性的风险披露过程进行严格分析。其次，我们将检查医生作为风险披露的提供者，以探讨提供者在提供遗传风险评估方面的差异。鉴于 REVEAL 研究设计的这些补充，我们将能够：1）检查风险披露会议期间提供者与患者互动的质量如何预测遗传风险评估后的关键患者和提供者结果； 2) 检查风险披露会议之间提供者与患者互动的差异，其中披露 APOE-e4 基因型的阴性与阳性检测结果； 3) 根据患者和提供者的特征（例如种族、提供者职业）探索提供者与患者互动的差异。研究结果将为多种疾病背景下遗传风险评估计划的制定和实施提供信息。