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

家族史和基于基因组学的风险分析对初级保健的影响

• 批准号: 8141572
• 负责人: Scott ROBERTS
• 金额: $ 7.61万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2012-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8141572
• 关键词: Acceleration; Address; Adult; Affect; Age; Area; Attitude; Audiotape; Behavior; Breast; Caring; Centers for Disease Control and Prevention (U.S.); Chronic Disease; Clinic; Clinical; Code; Collection; Colorectal; Colorectal Cancer; Communication; Complex; Coronary heart disease; Data; Development; Diabetes Mellitus; Disease; Disease Association; Evaluation; Family; Family health status; Family history of; Feedback; Funding; Future; Genes; Genetic; Genetic Predisposition to Disease; Genetic Risk; Genetic screening method; Genomics; Health; Health Personnel; Health Services; Health system; Healthcare; Heart Diseases; Hypertension; Individual; Intervention; Intervention Trial; Laboratory Study; Learning; Maintenance; Malignant Neoplasms; Malignant neoplasm of lung; Malignant neoplasm of ovary; Manuals; Medicine; Methods; Motivation; National Human Genome Research Institute; Nature; Non-Insulin-Dependent Diabetes Mellitus; Online Systems; Osteoporosis; Outcome; Participant; Patients; Physicians; Pilot Projects; Predisposition; Prevention; Preventive; Preventive Medicine; Primary Health Care; Procedures; Process; Protocols documentation; Provider; Public Health; Randomized Clinical Trials; Recommendation; Recording of previous events; Recruitment Activity; Research; Research Infrastructure; Research Personnel; Resources; Risk; Risk Assessment; Risk Reduction; Sampling; Scheme; Screening procedure; Self-Administered; Services; Single Nucleotide Polymorphism; Skin Cancer; Stroke; Surgeon; Test Result; Testing; Visit; Work; authority; base; caregiving; commercialization; design; disorder risk; evidence based guidelines; genetic risk assessment; hypercholesterolemia; improved; innovation; multidisciplinary; operation; primary care setting; programs; prototype; psychosocial; response; systematic review; tool; uptake

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.

项目摘要 基因组发现的快速加速正在产生新的工具（例如，基于snp 遗传易感性测试），使健康个体的个性化风险概况 通过披露他们对常见疾病的易感性，如糖尿病，心脏病， 疾病和癌症。个性化风险评估的一种机制可能 健康状况改善促使处于危险中的成年人坚持每年进行健康维护检查 并参与经过验证的筛查和风险降低程序。然而， 这些促进健康的访问很可能在很大程度上取决于讨论， 结果之间的病人和他们的护理提供者，以及是否程序，测试， 由这些探访所促成的转介，是资源的适当运用。基础上 我们在该领域的先前工作（即，CDC资助的家庭健康软件干预试验， NHGRI的多重倡议），我们的多学科研究团队正在计划一个 多中心随机临床试验（RCT），以检查基于初级护理的干预措施 包括多重遗传易感性检测和基于家族史风险 常见复杂疾病的信息。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问，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 开发和测试方法，最终将在我们的 建议RCT。首先，我们将制定一项协议，以整合我们现有的家族史 （家庭保健软件）和遗传易感性检测（多重倡议）干预措施 转化为一个用于初级保健的方案。我们将同时开发一个编码 分析方案和操作手册（通过健康维护访问的录音） 多重基因检测和家族健康史信息如何影响医生- 患者接触。由此产生的干预和编码方案将是 在对50名患者（年龄10岁）的社会和种族多样性样本的试点研究中实施 35-65）从亨利福特卫生系统内的初级保健诊所招募。 所产生的研究材料、基础设施和研究结果将用于为设计提供信息， 多中心随机对照试验，在更大的样本中测试我们的干预措施。