The Electronic Medical Records and Genomics (eMERGE) Network, Phase III

电子病历和基因组学 (eMERGE) 网络，第三阶段

• 批准号: 9551116
• 负责人: Gail Pairitz Jarvik
• 金额: $ 84.27万
• 依托单位: KAISER FOUNDATION RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-01 至 2019-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9551116
• 关键词: Address; Algorithms; Amendment; American; Asians; Blood; Cardiovascular Diseases; Caring; Clinical; Collaborations; Colon Carcinoma; Colorectal Cancer; Communication; Community Practice; Community of Practice; Complex; Computerized Medical Record; Coupled; Data; Development; Digital Libraries; Disease; Disease Resistance; Economics; Education; Effectiveness; Ensure; Evaluation; Family; General Population; Genes; Genetic; Genomic medicine; Genomics; Goals; Health; Health system; Hereditary Disease; Herpes zoster disease; Immunity; Incidental Findings; Individual; Integrated Delivery Systems; Intuition; Laboratories; Leadership; Link; Long QT Syndrome; Malignant Neoplasms; Medical; Medical Genetics; Medical Libraries; Methods; Mission; Modeling; Morbidity - disease rate; National Human Genome Research Institute; Natural Language Processing; Other Genetics; Participant; Pathogenicity; Patient Care; Patients; Penetrance; Pharmacogenetics; Phase; Phenotype; Physicians; Policy Developments; Population; Predisposition; Preventive screening; Primary Health Care; Process; Provider; Randomized Controlled Trials; Records; Reporting; Research Design; Resources; Risk; Site; Social Impacts; Technology; Testing; Translating; Triglycerides; Universities; Variant; Washington; Work; age related; base; clinical care; clinical practice; cost; cost effectiveness; design; economic cost; economic impact; economic outcome; genetic association; genetic variant; genome wide association study; genomic data; improved; innovation; interest; medical schools; medical specialties; mortality; neutrophil; novel; online resource; outreach; polyposis; prevent; public health relevance; rare variant; screening; tool; trait

 DESCRIPTION (provided by applicant): This application from the Group Health (GH)/University of Washington (UW) eMERGE team proposes specific aims designed to advance integration of genomic data into clinical practice with a focus on clinical discovery and implementation on Mendelian forms of colorectal cancer and/or polyposis (CRC/P) and incidental findings in other actionable genes. Our aims will also allow us to address challenges involved in bringing genomic medicine into standard medical care. Our focus on CRC/P, and quantitative traits and incidental findings (IF) in other actionable genes represents a unique opportunity to move the field forward towards the goal of bringing genomic medicine into effective, standard medical practice in an everyday community practice setting. We have 3 Aims. Aim 1: Genomic medicine discovery and implementation focused on CRC/P, Triglycerides (TG), and neutrophil count (NPC). We proposed sequencing of 1000 CRC and 1000 Asian ancestry participants, to achieve sub- aims of understanding the genetic basis of CRC, TG, and NPC. Aim 2: Integrate genomic information into GH-wide clinical care and the EMR. We will develop intuitive, comprehensive reports to return CRC and other genes deemed actionable by the American College of Medical Genetics and Genomics (ACMG). We will incorporate stakeholder input and then to implement integrated processes and tools into an integrated delivery system with a focus on CRC/P and Long QT syndrome. We will develop and evaluate educational outreach and online resources. Aim 3: Evaluate the effectiveness and economic impact of result return to patients and their families. We will implement a novel tool to increase family communication of CRC genetic results and evaluate the economic impact and cost effectiveness of this tool as well as of returning IFs. Completion of the work in this eMERGE III proposal will guarantee that the Seattle site remains an engaged and effective leader in the eMERGE network in support of NHGRI's mission to ensure that barriers to successful integration of genomic medicine in clinical care are overcome.

 描述（由申请人提供）：来自 Group Health (GH)/华盛顿大学 (UW) eMERGE 团队的这份申请提出了具体目标，旨在推动基因组数据整合到临床实践中，重点是孟德尔形式的结直肠癌和/或息肉病 (CRC/P) 的临床发现和实施以及其他可操作基因的偶然发现。我们的目标还将使我们能够应对将基因组医学纳入标准医疗保健中所涉及的挑战。我们对 CRC/P 以及其他可操作基因的数量性状和偶然发现 (IF) 的关注代表了一个独特的机会，可以推动该领域朝着将基因组医学带入日常社区实践环境中有效、标准医疗实践的目标迈进。我们有 3 个目标。目标 1：基因组医学的发现和实施重点关注 CRC/P、甘油三酯 (TG) 和中性粒细胞计数 (NPC)。我们建议对 1000 名 CRC 和 1000 名亚洲血统参与者进行测序，以实现了解 CRC、TG 和 NPC 遗传基础的子目标。目标 2：将基因组信息整合到 GH 范围内的临床护理和 EMR 中。我们将开发直观、全面的报告，以返回 CRC 和美国医学遗传学和基因组学学院 (ACMG) 认为可行的其他基因。我们将吸收利益相关者的意见，然后将集成流程和工具实施到集成交付系统中，重点关注 CRC/P 和长 QT 综合征。我们将开发和评估教育推广和在线资源。目标 3：评估结果返回给患者及其家人的有效性和经济影响。我们将实施一种新工具来加强 CRC 基因结果的家庭交流，并评估该工具以及返回 IF 的经济影响和成本效益。完成此 eMERGE III 提案中的工作将保证西雅图站点仍然是 eMERGE 网络中积极有效的领导者，以支持 NHGRI 的使命，确保克服基因组医学成功整合到临床护理中的障碍。