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

 描述（由申请人提供）：本申请来自Group Health（GH）/华盛顿大学（UW）eMERGE团队，提出了旨在推进基因组数据整合到临床实践中的具体目标，重点关注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护理的挑战。我们专注于CRC/P，以及其他可操作基因中的数量性状和偶然发现（IF），这是一个独特的机会，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的有效，标准医疗实践的目标前进。我们有三个目标。目的1：基因组医学的发现和实施集中在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，以实现理解CRC、TG和NPC的遗传基础的子目标。目标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CRC和其他被美国医学遗传学和基因组学学院（ACMG）认为可行的基因。我们将结合利益相关者的意见，然后将综合流程和工具纳入综合交付系统，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。目的3：评估结果返回给患者及其家属的有效性和经济影响。我们将实施一种新的工具，以增加CRC遗传结果的家庭沟通，并评估该工具以及返回IF的经济影响和成本效益。完成本eMERGE III提案中的工作将确保西雅图研究中心在eMERGE网络中保持积极和有效的领导地位，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。

 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.