CSER RoRC Centralized Support Coordinating Center

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）项目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，信息学和生物伦理成分，包括基因组结果的返回。我们在这个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，推动跨联盟工作向前发展，并确定增加单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孟德尔基因组学中心（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，包括电子病历和基因组学（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和RoRC的工作。这些努力将促进未来基因组医学的实践。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，涵盖了广泛的学科，如内科，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，以及医疗保健成果和政策。我们包括CSER和RoRC的成员，以及eMERGE、CMG、CEER和PGRN项目，这些项目将最大限度地提高CSER和RoRC在这些项目中的互动。我们的团队了解CSER和RoR项目的需求，在NHGRI和NCI的帮助下，我们将在这些项目的内外努力确保成功。

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.