The Impact of Family History and Genomics Based Risk Profiling on Primary Care

描述（由申请人提供）： 基因组发现的快速加速正在产生新的工具（例如，基于SNP的遗传易感性测试），通过披露健康个体对糖尿病、心脏病和癌症等常见疾病的易感性，为健康个体提供个性化的风险特征。个性化风险评估可能改善健康的一个机制是激励高危成年人坚持每年的健康维护访问，并参与经过验证的筛查和风险降低程序。然而，这些访问促进健康的效用很可能在很大程度上取决于病人和他们的护理提供者之间的讨论，以及这些访问所引发的程序，测试和转诊是否是对资源的适当利用。基于我们在这一领域的先前工作（即，CDC资助的家庭健康软件干预试验和NHGRI的多重倡议），我们的多学科研究团队正在计划一项多中心随机临床试验（RCT），以检查基于初级保健的干预措施，其中包括针对常见复杂疾病的多重遗传易感性测试和基于家族史的风险信息。在随机对照试验中，我们将研究这些干预措施对患者接受健康维护访视的影响，与 卫生服务提供者和随后的卫生服务使用。这项试点研究将使我们能够开发和测试最终将在我们提出的RCT中实施和评估的方法。首先，我们将制定一个方案，将我们现有的家族史（家庭健康软件）和遗传易感性测试（多重倡议）干预措施整合到一个用于初级保健环境的方案中。我们将同时开发一个编码方案和操作手册，用于分析（通过录音健康维护访问）多重基因检测和家庭健康史信息如何影响医生与患者的接触。由此产生的干预和编码方案，然后将实施一项试点研究的社会和种族多样化的样本50例患者（年龄35-65）从初级保健诊所内的亨利福特卫生系统。所得到的研究材料、基础设施和结果将用于为多中心RCT的设计提供信息，以在更大的样本中测试我们的干预措施。

DESCRIPTION (provided by applicant): The rapid acceleration of genomic discovery is engendering new tools (e.g., SNP-based genetic susceptibility tests) that enable personalized risk profiles for healthy individuals by disclosing their susceptibility to such common diseases such as diabetes, heart disease and cancer. One mechanism by which personalized risk assessments might improve health is motivating at-risk adults to adhere to annual health maintenance visits and engage in proven screening and risk reduction procedures. However, the utility of these visits for promoting health is likely to depend strongly on the discussions that result between patients and their care providers, and whether the procedures, tests, and referrals prompted by these visits are an appropriate use of resources. Building upon our prior work in this area (i.e., the CDC-funded Family Healthware Intervention trial and NHGRI's Multiplex Initiative), our multidisciplinary team of investigators is planning a multi-center randomized clinical trial (RCT) to examine primary care-based interventions that incorporate multiplex genetic susceptibility testing and family history-based risk information for common, complex diseases. In the RCT, we will examine the impact of these interventions on patients' uptake of health maintenance visits, interactions with health providers, and subsequent health service use. This pilot study will allow us to develop and test approaches that would eventually be implemented and evaluated in our proposed RCT. First we will develop a protocol to integrate our existing family history (Family Healthware) and genetic susceptibility testing (Multiplex Initiative) interventions into a protocol for use in a primary care setting. We will concurrently develop a coding scheme and operations manual for analyzing (via audiotaped health maintenance visits) how multiplex genetic testing and family health history information affect physician-patient encounters. The resulting intervention and coding scheme will then be implemented in a pilot study of a socially and racially diverse sample of 50 patients (age 35-65) recruited from primary care clinics within the Henry Ford Health System. Resulting study materials, infrastructure, and findings will be used to inform the design of the multisite RCT to test our interventions in a larger sample.