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

基本信息

批准号：
9358802
负责人：
Gail Pairitz Jarvik
金额：
$ 7.2万
依托单位：
KAISER FOUNDATION HEALTH PLAN OF WASHINGTON
依托单位国家：
美国
项目类别：
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/9358802
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 Disease Disease Resistance Economics Education Effectiveness Electronics Ensure Evaluation Family General Population Genes Genetic Genomic medicine Genomics Goals Health Health system Healthcare Hereditary Disease Herpes zoster disease Immunity Incidental Findings Individual Integrated Delivery Systems Laboratories Leadership Libraries Link Long QT Syndrome Malignant Neoplasms Medical Medical Genetics Methods Mission Modeling Morbidity - disease rate 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 Reporting Research Design Resources Risk Site Social Impacts Technology Testing Translating Triglycerides Universities Variant Washington Work age related base clinical care clinical practice college cost cost effectiveness design economic cost economic impact economic outcome genetic association genetic variant genome wide association study genomic data improved innovation interest medical specialties mortality neutrophil novel outreach polyposis prevent rare variant screening tool trait

项目摘要

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（由应用程序提供）：来自集团健康（GH）/华盛顿大学（UW）出现的团队提案的此应用特定的目的旨在将基因组数据扩展到临床实践中，重点是临床发现和实施Mendelian形式的结直肠癌和/或polyposis（CRC/P）（CRC/P），以及其他作用基因的事件。我们的目标还将使我们能够解决将基因组医学带入标准医疗服务所涉及的挑战。我们关注CRC/P，其他可操作基因中的定量特征和偶然发现（IF），这是一个独特的机会，可以将该领域推向目标，以将基因组医学带入有效的标准医疗实践中，每天在社区实践环境中。我们有3个目标。 AIM 1：基因组医学发现和实施，集中于CRC/P，甘油三酸酯（TG）和中性粒细胞计数（NPC）。我们提出了1000个CRC和1000名亚洲血统参与者的测序，以实现了解CRC，TG和NPC的遗传基础的子。 AIM 2：将基因组信息整合到GH范围的临床护理和EMR中。我们将开发直观，全面的报告，以返回美国医学遗传与基因组学学院（ACMG）认为可起作用的CRC和其他基因。我们将结合利益相关者的输入，然后将集成过程和工具实施到集成的交付系统中，重点是CRC/P和长QT综合征。我们将开发和评估教育外展和在线资源。目标3：评估结果回报对患者及其家人的有效性和经济影响。我们将实施一种新颖的工具，以增加CRC遗传结果的家庭交流，并评估该工具以及返回IF的经济影响和成本效益。在本出现的III提案中完成工作的完成将确保西雅图站点仍然是Emerge网络中的参与和有效的领导者，以支持NHGRI的使命，以确保成功整合基因组医学在临床护理中的障碍。