Disclosure of Genetic Risk for Alzheimer's Disease

描述（由申请人提供）：了解人们对遗传风险信息的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）基因型是一个重要的风险因素，提供了一个有指导意义的范例，在这个范例中，研究了一种常见的复杂疾病的基因检测过程和影响。本申请中的家长资助，NHGRI/ nia资助的阿尔茨海默病风险评估和教育（REVEAL）研究，是一项多地点，遗传咨询和教育计划的随机临床试验，包括APOE基因型信息的披露。本临床试验考察了咨询和教育项目对不同种族阿尔茨海默病患者一级亲属的心理和行为影响。我们将通过几项方法创新来扩展REVEAL研究的新颖设计和内容。首先，我们将使用Roter交互分析系统（RIAS）编码方法来分析225多段REVEAL风险披露会议的录音。RIAS已成功地应用于许多临床环境，但从未应用于实际的遗传风险披露会议。它的使用将允许对阿尔茨海默病易感性风险披露过程进行严格的分析。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研究设计中增加的这些内容，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关键患者和提供者的结果；2)检查APOE-e4基因型阴性和阳性检测结果的风险披露会议之间提供者-患者互动的差异；3)探索基于患者和提供者特征（如种族、提供者职业）的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项目的制定和实施提供信息。

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.