Disclosure of Genetic Risk for Alzheimer's Disease

阿尔茨海默病遗传风险的披露

• 批准号: 7099112
• 负责人: Scott ROBERTS
• 金额: $ 8.2万
• 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/7099112
• 关键词: Alzheimer' s disease; apolipoprotein E; behavior prediction; behavioral /social science research tag; clinical research; communication; emotions; family genetics; family structure /dynamics; genetic counseling; genetic disorder diagnosis; genetic susceptibility; genotype; health behavior; health care personnel performance; health services research tag; occupational psychology; patient care personnel relations; primary care physician; racial /ethnic difference; stress

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）：了解人们如何对遗传风险信息做出反应，对于将基因组研究的发现有效地转化为临床护理至关重要。阿尔茨海默病（AD），其中一种形式的载脂蛋白E（APOE）基因型作为一个重要的危险因素，提供了一个指导性的范例，其中检查的过程和影响的基因检测的一个共同的，复杂的疾病。本申请中的父母补助金，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地点，随机临床试验，包括APOE基因型信息的披露。这项临床试验研究了咨询和教育计划对AD患者一级亲属种族多样性样本的心理和行为影响。我们将通过几种方法上的创新来扩展本已新颖的REVEAL研究设计和内容。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风险披露会议。RIAS已成功地用于许多临床背景下，但从未被应用到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，我们将研究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-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局; 2）检查风险披露会议之间提供者-患者互动的差异，其中APOE-e4基因型的阴性与阳性检测结果被披露;以及3）基于患者和提供者特征两者探索提供者-患者交互的差异（例如，种族、提供者职业）。研究结果将为许多疾病背景下遗传风险评估计划的制定和实施提供信息。