Integration of Whole Genome Sequencing into Clinical Medicine

全基因组测序融入临床医学

• 批准号: 8914756
• 负责人: Robert C. Green
• 金额: $ 15.45万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-12-05 至 2015-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8914756
• 关键词: Age; Algorithms; Attitude; Behavior; Behavioral; Categories; Clinical; Clinical Medicine; Clinical Trials; Collaborations; Consent; Data; Disclosure; Disease; Disease model; Electronics; Enrollment; Familial Hypertrophic Cardiomyopathy; Family; Future; Genes; Genetic Variation; Genetic screening method; Genomics; Health; Health Care Costs; Human Genetics; Hypertrophic Cardiomyopathy; Individual; Laboratories; Medical; Medicine; Methods; Modeling; Monitor; Motivation; Outcome; Patient Care; Patients; Physicians; Prevention; Primary Care Physician; Process; Protocols documentation; Psychological Impact; Randomized; Randomized Clinical Trials; Recording of previous events; Recruitment Activity; Reporting; Research; Risk; Safety; Sequence Analysis; Symptoms; Test Result; Testing; Update; Variant; arm; base; clinical care; clinical practice; clinically relevant; experience; genome sequencing; health economics; insight; middle age; novel; preference; response; standard of care

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.

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在每种方法中纯粹形式建模的临床条件的影响。为了模拟一般基因组医学，将招募10名初级保健医生和100名健康中年患者。为了模拟特定疾病的基因组医学，将招募10名心脏病学家及其100名患有家族性肥厚心肌病（HCM）的患者。 我们将在每个模型中进行随机医师及其患者的探索性临床试验，以接收来自WGS与当前护理标准的临床意义。 项目1将创建用于变异披露的标准，将医生和患者纳入协议，并安全地监测基因组信息在临床实践中的使用。项目2将对医生使用序列，分析和解释WGS。项目3将检查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量和利用，并评估与使用WGS在这些医学实践模型中使用WG相关的理解，行为，医疗后果和医疗费用。 该计划将通过创建和 安全地测试将WGS从WGS整合到患者医师护理中的新型方法。