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.

Public Health Relevance

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.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
1U01HG007307-01
Application #
8515639
Study Section
Special Emphasis Panel (ZHG1-HGR-N (J2))
Program Officer
Hindorff, Lucia
Project Start
2013-04-01
Project End
2017-03-31
Budget Start
2013-04-01
Budget End
2014-03-31
Support Year
1
Fiscal Year
2013
Total Cost
$759,981
Indirect Cost
$256,355
Name
University of Washington
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
605799469
City
Seattle
State
WA
Country
United States
Zip Code
98195
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Rasmussen, Luke V; Overby, Casey L; Connolly, John et al. (2016) Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform 7:870-82
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Korngiebel, Diane M; McMullen, Carmit K; Amendola, Laura M et al. (2016) Generating a taxonomy for genetic conditions relevant to reproductive planning. Am J Med Genet A 170:565-73
Green, Robert C; Goddard, Katrina A B; Jarvik, Gail P et al. (2016) Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 98:1051-66
Mathias, Patrick C; Tarczy-Hornoch, Peter; Shirts, Brian H (2016) Modeling the costs of clinical decision support for genomic precision medicine. AMIA Jt Summits Transl Sci Proc 2016:60-4
Brothers, Kyle B; Holm, Ingrid A; Childerhose, Janet E et al. (2016) When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr 168:226-31.e1
Amendola, Laura M; Jarvik, Gail P; Leo, Michael C et al. (2016) Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98:1067-76
Nishimura, Adam A; Shirts, Brian H; Salama, Joseph et al. (2016) Physician perspectives of CYP2C19 and clopidogrel drug-gene interaction active clinical decision support alerts. Int J Med Inform 86:117-25

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