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倡议中，我们建议探索和比较在临床条件下使用WGS的影响，这些条件模拟了每种方法的纯形式。为了模拟普通基因组医学，将招募10名初级保健医生和100名健康的中年患者。为了建立疾病特异性基因组医学模型，10名心脏病专家和他们的100名表现为家族性肥厚型心肌病(HCM)的患者将被纳入研究。我们将进行一项探索性临床试验，在每个模型中随机选择医生和他们的患者，以获得来自WGS和当前护理标准的有临床意义的信息。项目1将制定变异信息披露的标准，将医生和患者纳入方案，并安全地监测基因组信息在临床实践中的使用。项目2将对WGS进行排序、分析和解释，以供医生使用。项目3将检查参与的医生和患者的偏好和动机，评估临床互动中基因组信息的流动和利用，并评估与在这些医疗实践模式中使用WGS相关的理解、行为、医疗后果和医疗成本。这一倡议将显著加快基因组学在临床医学中的使用，方法是创造和 安全地测试将来自WGS的信息集成到医生对患者的护理中的新方法。 公共卫生相关性：医生将很快使用WGS来洞察未来的健康风险，为健康患者的预防工作提供信息，并询问有家族病史和症状的患者的已知与疾病相关的特定基因集。这项研究的结果将通过创造和测试将WGS整合到医生对患者的护理中的方法来加速基因组学在临床医学中的使用。

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. PUBLIC HEALTH RELEVANCE: Physicians will soon use WGS to derive insight into future health risks and inform prevention efforts in healthy patients and to interrogate particular sets o genes known to be associated with disease in patients presenting with a family history and symptoms. The results of this study will accelerate the use of genomics in clinical medicine by creating and testing ways to integrate WGS into physician care of patients.