CSER RoRC Centralized Support Coordinating Center

CSER RoRC集中支持协调中心

• 批准号: 8843604
• 负责人: WYLIE G. BURKE
• 金额: $ 11.26万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-06-01 至 2017-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8843604
• 关键词: Area; Bioethics; Bioinformatics; Biology; Caring; Cataloging; Catalogs; Clinical; Clinical Distribution; Clinical Informatics; Clinical Treatment; Clinical effectiveness; Complex; Computerized Medical Record; DNA Resequencing; DNA Sequence; Data; Development; Diagnosis; Discipline; Disease; Effectiveness; Ensure; Funding; Future; Gene Mutation; Genetic; Genetic Medicine; Genetic Structures; Genetic Variation; Genome; Genomics; Goals; Healthcare; Hereditary Disease; High-Throughput DNA Sequencing; Human; Human Genetics; Human Genome Project; Individual; Informatics; Institutes; Internal Medicine; International; Knowledge; Leadership; Logistics; Medical; Medical Genetics; Medicine; Methods; Molecular Diagnostic Testing; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; Neonatology; Outcome; Outcomes Research; Patients; Pediatric Neurology; Pharmacogenetics; Pharmacogenomics; Physicians; Policies; Population; Positioning Attribute; Recommendation; Reporting; Research; Science; Sequence Analysis; Technology; Translating; United States National Institutes of Health; Universities; Variant; Washington; Work; clinical practice; cost; data sharing; design; ethical legal social implication; exome sequencing; expectation; experience; genome sequencing; human DNA; improved; member; programs; public health relevance; success; working group

DESCRIPTION (provided by applicant): The Clinical Sequencing Exploratory Research (CSER) and Return of Results Consortium (RoRC) programs are designed to investigate aspects of using exomic data clinically, considering clinical, technical, informatics, and bioethicl components including the return of genomic results. Our overall goal in this coordinating center proposal is to enhance the effectiveness of CSER/RoRC studies by assuring effective coordination and logistic support, moving cross-consortium work forward, and identifying synergies that increase the scientific value of the individual projects. In approaching this task, we leverage our experience as the coordinating center (CC) for the NHGRI Centers for Mendelian Genomics (CMG), the NHLBI Exome Sequencing Project and the Northwest Institute of Genetic Medicine (NWIGM) and our extensive collaborative experience, including electronic Medical Records and Genomics (eMERGE)5, the Centers of Excellence in ELSI Research (CEER) network and the Pharmacogenomics Research Network (PGRN) to facilitate the work of CSER and RoRC. These efforts will facilitate the future practice of genomic medicine. Our group has deep and broad expertise across all the relevant areas required for coordination including genomic sequencing technology and data-sharing, clinical informatics, clinical medical genetics, bioethics, molecular diagnostic testing, statistical genetics, covering a wide variety of disciplins such as internal medicine, neonatalogy, pediatrics, neurology, medical genetics, bioethics, pharmacogenetics and genomics, environmental genetics, translational bioinformatics, and health care outcomes and policy. We include members of the CSER and RoRC, as well as eMERGE, CMG, CEER, and PGRN programs which will maximize CSER and RoRC interactions across these programs. Our group understands the needs of both the CSER and RoR programs, and with the help of NHGRI and NCI, we will work within and outside of these programs to ensure success. Specific Aims Aim1: Provide leadership and integrative, organizational and logistical support and facilitation of all activities necessary for the successful completion of the goals of the CSER Steering Committee (SC) and RoR Consortium, subcommittees, and working groups. Aim 2: Provide unique expertise to facilitate excellence and consortium products in the key program areas: ELSI, medical genetics and care integration, sequencing technology and sequence analyses, informatics and electronic medical record integration, and outcomes research. Aim 3: Optimize development and distribution of CSER/RoRC data and products, and facilitate interactions with other relevant NIH programs.

描述（由申请人提供）：临床测序探索性研究 (CSER) 和结果返回联盟 (RoRC) 计划旨在研究临床使用外显子组数据的各个方面，考虑临床、技术、信息学和生物伦理学组成部分，包括基因组返回结果。我们在此协调中心提案中的总体目标是通过确保有效的协调和后勤支持、推动跨联盟工作以及确定可提高各个项目科学价值的协同作用，来提高 CSER/RoRC 研究的有效性。在完成这项任务时，我们利用我们作为 NHGRI 孟德尔基因组中心 (CMG)、NHLBI 外显子组测序项目和西北遗传医学研究所 (NWIGM) 协调中心 (CC) 的经验以及我们广泛的合作经验，包括电子医疗记录和基因组学 (eMERGE)5、ELSI 研究卓越中心 (CEER) 网络和药物基因组学研究网络 (PGRN)，以促进 CSER 的工作和罗克。这些努力将促进基因组医学的未来实践。我们的团队在协调所需的所有相关领域拥有深厚而广泛的专业知识，包括基因组测序技术和数据共享、临床信息学、临床医学遗传学、生物伦理学、分子诊断测试、统计遗传学，涵盖内科等多种学科、新生儿学、儿科、神经病学、医学遗传学、生物伦理学、药物遗传学和基因组学、环境遗传学、转化生物信息学以及医疗保健结果和政策。我们包括 CSER 和 RoRC 以及 eMERGE、CMG、CEER 和 PGRN 计划的成员，这将最大限度地提高这些计划之间的 CSER 和 RoRC 互动。我们的团队了解 CSER 和 RoR 计划的需求，并且在 NHGRI 和 NCI 的帮助下，我们将在这些计划内外开展工作，以确保成功。 具体目标 目标 1：提供领导以及综合、组织和后勤支持和便利 成功完成 CSER 指导委员会 (SC) 和 RoR 联盟、小组委员会和工作组目标所需的所有活动。 目标 2：提供独特的专业知识，以促进关键计划领域的卓越和联盟产品：ELSI、医学遗传学和护理整合、测序技术和序列分析、信息学和电子病历整合以及结果研究。 目标 3：优化 CSER/RoRC 数据和产品的开发和分发，并促进与其他相关 NIH 项目的互动。