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.
Our overall goal in this coordinating center proposal is to enhance the effectiveness of Clinical Sequencing Exploratory Research (CSER) and Return of Results Consortium (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.
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