N2 - Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. The eMERGE Genomic Risk Assessment Network is funded by the National Human Genome Research Institute ( NHGRI ) through the following grants: U01HG011172 ( Cincinnati Children's Hospital Medical Center ), U01HG011175 ( Children's Hospital of Philadelphia ), U01HG008680 ( Columbia University ), U01HG011176 ( Icahn School of Medicine at Mount Sinai ), U01HG008685 ( Mass General Brigham ), U01HG006379 ( Mayo Clinic ), U01HG011169 ( Northwestern University ), U01HG011167 ( University of Alabama at Birmingham ), U01HG008657 ( University of Washington ), U01HG011181 ( Vanderbilt University Medical Center ), and U01HG011166 ( Vanderbilt University Medical Center serving as the Coordinating Center ). T1 - Returning integrated genomic risk and clinical recommendations Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.",Īuthor = " and Janet Olson and Richard Sharp", Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.Ībstract = "Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history.
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