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

项目总结 基因组发现的快速加速正在产生新的工具(例如，基于SNP的 基因敏感度测试)，为健康个体提供个性化风险描述 通过披露他们对糖尿病、心脏病等常见疾病的易感性 疾病和癌症。个性化风险评估可能采用的一种机制 改善健康激励高危成年人坚持每年一次的健康维护访问 并参与经过验证的筛查和风险降低程序。但是，它的实用性 这些促进健康的访问可能在很大程度上取决于 患者和他们的护理提供者之间的结果，以及程序、测试和 由这些访问引起的转介是对资源的适当使用。建立在 我们之前在这方面的工作(即疾控中心资助的家庭健康器皿干预试验和 NHGRI的多元化倡议)，我们的多学科调查团队正在计划 多中心随机临床试验(RCT)以检查基于初级保健的干预措施 结合了多重遗传易感性测试和基于家族病史的风险 常见、复杂疾病的信息。在RCT中，我们将审查 这些干预措施对患者接受健康维护访问、与 卫生服务提供者，以及随后的卫生服务使用。这项初步研究将使我们能够 开发和测试最终将在我们的 建议的RCT。首先，我们将制定一项协议，整合我们现有的家族病史 (家庭健康软件)和遗传易感性检测(多路传输倡议)干预 转化为在初级保健环境中使用的协议。我们将同时开发一种编码 用于分析的方案和操作手册(通过录音的健康维护访问) 多重基因检测和家族健康史信息如何影响医生- 病人相遇。由此产生的干预和编码方案将是 在对50名患者(年龄)的社会和种族多样性样本的试点研究中实施 35-65)从亨利·福特健康系统内的初级保健诊所招聘。 由此产生的研究材料、基础设施和研究结果将用于指导设计 多点随机对照试验在更大的样本中测试我们的干预措施。

PROJECT SUMMARY 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.