Primary Care Provider Education on Common Disease Genetics

描述(由申请人提供)： 初级保健提供者(PCP)，特别是医生，越来越有责任就常见疾病基因检测向患者提供建议。全基因组关联研究(GWAS)已经确定了与一系列常见的成人发病疾病相关的常见基因变异，如老年性黄斑变性、前列腺癌和II型糖尿病。这些GWA结果的临床意义仍不清楚，也存在争议。然而，商业公司已经利用这些发现提供了针对常见疾病的直接面向消费者的基因测试。为了准备好应对患者关于这些测试的询问，或许最终将基因组学整合到他们的临床实践中，初级保健医生需要能够理解、评估并与他们的患者就GWAS的结果、遗传风险和基因测试进行沟通。目前，证据表明PCP还没有为这些基因组的发展做好准备。这项研究的总体目标是：(1)有效地教育PCP评估遗传信息，并仅在适当的时候将其纳入他们的临床实践；以及(2)改善关于基因组学和基因检测的提供者与患者的沟通。为了实现这些目标，具体目标是：1)通过美国家庭医生协会(AAFP)和美国内科医学委员会(ABIM)对医生进行调查，与医生进行访谈，并与专家顾问会面，以告知旨在教育医生有关常见疾病遗传学和基因测试的干预措施的设计、内容和发展；2)制定和试点干预内容，如案例研究 小插曲、交流视频和手持风险交流辅助工具；以及3)计划一项使用教育和交流干预的随机对照试验(RCT)，以评估其在改善PCP对常见疾病遗传学的理解和交流方面的有效性。这项计划拨款将涉及西奈山医学院、梅奥诊所和杜克大学的不同医疗环境，以了解PCP目前对基因组学和基因检测的信念、态度和理解，以及创新的多媒体干预是否可以改变他们的行为，帮助他们有效地交流有关常见疾病遗传学的信息。

DESCRIPTION (provided by applicant): Primary care providers (PCPs), especially physicians, are becoming increasingly responsible for advising patients regarding common disease genetic testing. Genome-wide association studies (GWASs) have identified common gene variants which are associated with a range of common adult-onset diseases, such as age-related macular degeneration, prostate cancer and type II diabetes. The clinical significance of these GWAS results remains unclear and controversial. However, commercial companies are already offering direct-to-consumer genetic tests for common diseases using these findings. In order to be prepared for patient inquiries about these tests and perhaps the eventual integration of genomics into their clinical practice, PCPs need to be able to understand, evaluate and communicate with their patients about GWAS findings, genetic risk and genetic tests. At present, the evidence suggests that PCPs are not prepared for these genomic developments. The overall objectives of this study are to: (1) effectively educate PCPs to evaluate genetic information and incorporate it only when appropriate into their clinical practice; and (2) improve provider-patient communication about genomics and genetic testing. To achieve these goals, the specific aims are to: 1) conduct a survey of physicians through the American Association of Family Practitioners (AAFP) and the American Board of Internal Medicine (ABIM), interviews with PCPs, and meetings among expert consultants to inform the design, content and development of an intervention designed to educate PCPs about common disease genetics and genetic testing; 2) develop and pilot the intervention components such as case study vignettes, communication videos, and handheld risk communication aids; and 3) plan a randomized controlled trial (RCT) using the educational and communication intervention to evaluate its effectiveness in improving PCPs' understanding and communication of common disease genetics. This planning grant will involve diverse healthcare settings at Mount Sinai School of Medicine, Mayo Clinic, and Duke University to understand PCPs' current beliefs, attitudes and understanding of genomics and genetic testing, and whether an innovative multimedia intervention can change their behavior and help them effectively communicate information about genetics of common diseases.