Integration of Whole Genome Sequencing into Clinical Medicine

描述（由申请人提供）：在这项高度协作的多学科举措中，我们建议探索和比较在模拟每种方法的纯形式的临床条件下使用全基因组测序的影响。为了模拟普通基因组医学，将招募 10 名初级保健医生和 100 名健康中年患者。为了建立疾病特异性基因组医学模型，将招募 10 名心脏病专家和 100 名患有家族性肥厚型心肌病 (HCM) 的患者。 我们将进行一项探索性临床试验，在每个模型中随机分配医生及其患者，以获得来自全基因组测序与当前护理标准的有临床意义的信息。 项目 1 将制定变异披露标准，让医生和患者参与该方案，并安全监控基因组信息在临床实践中的使用。项目 2 将测序、分析和解释 WGS，供医生使用。项目 3 将检查纳入的医生和患者的偏好和动机，评估临床相互作用中基因组信息的流动和利用，并评估与在这些医疗实践模型中使用 WGS 相关的理解、行为、医疗后果和医疗保健成本。 该举措将通过创造和显着加速基因组学在临床医学中的应用 安全地测试将 WGS 信息整合到患者医生护理中的新方法。

DESCRIPTION (provided by applicant): In this highly collaborative multi-disciplinary initiative, we propose to explore and compare the impact of using WGS in clinical conditions that model pure forms of each of these approaches. To model General Genomic Medicine, 10 primary care physicians and 100 of their healthy middle-aged patients will be enrolled. To model Disease-Specific Genomic Medicine, 10 cardiologists and 100 of their patients presenting with familial hypertrophic cardiomyopathy (HCM) will be enrolled. We will conduct an exploratory clinical trial randomizing physicians and their patients within each of these models to receive clinically meaningful information derived from WGS versus current standard of care. Project 1 will create standards for variant disclosure, enroll physicians and patients into the protocol and safely monitor the use of genomic information in clinical practice. Project 2 will sequence, analyze and interpret WGS for the physicians to use. And Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice. This initiative will significantly accelerate the use of genomics into clinical medicine by creating and safely testing novel ways of integrating information from WGS into physician care of patients.