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Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder, Jodell E; Allworth, Aimee; Bland, Harris T; Caraballo, Pedro J; Chisholm, Rex L; Clayton, Ellen Wright; Crosslin, David R; Dikilitas, Ozan; DiVietro, Alanna; Esplin, Edward D; Forman, Sophie; Freimuth, Robert R; Gordon, Adam S; Green, Richard; Harden, Maegan V; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth W; Labrecque, Sofia; Lennon, Niall J; Limdi, Nita A; Mittendorf, Kathleen F; Murphy, Shawn N; Orlando, Lori; Prows, Cynthia A; Rasmussen, Luke V; Rasmussen-Torvik, Laura; Rowley, Robb; Sawicki, Konrad Teodor; Schmidlen, Tara; Terek, Shannon; Veenstra, David; Velez Edwards, Digna R; Absher, Devin; Abul-Husn, Noura S; Alsip, Jorge; Bangash, Hana; Beasley, Mark; Below, Jennifer E; Berner, Eta S; Booth, James; Chung, Wendy K; Cimino, James J; Connolly, John; Davis, Patrick; Devine, Beth; Fullerton, Stephanie M; Guiducci, Candace; Habrat, Melissa L; Hain, Heather.
Afiliação
  • Linder JE; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
  • Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
  • Bland HT; Department of Biomedical Informatics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
  • Caraballo PJ; Department of Internal Medicine and Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
  • Chisholm RL; Center for Genetic Medicine, Northwestern University, Chicago, IL.
  • Clayton EW; Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN.
  • Crosslin DR; Division of Biomedical Informatics and Genomics, John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA.
  • Dikilitas O; Mayo Clinician Investigator Training Program, Department of Internal Medicine and Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
  • DiVietro A; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
  • Esplin ED; Invitae, San Francisco, CA.
  • Forman S; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
  • Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN.
  • Gordon AS; Department of Pharmacology, Feinberg School of Medicine, and Center for Genetic Medicine, Northwestern University, Chicago, IL.
  • Green R; Department of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
  • Harden MV; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Holm IA; Division of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Jarvik GP; Division of Medical Genetics, Department of Medicine and Department of Genome Science, University of Washington Medical Center, Seattle, WA.
  • Karlson EW; Division of Rheumatology, Inflammation and Immunity, Department of Medicine, Brigham and Women's Hospital, Boston, MA.
  • Labrecque S; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
  • Lennon NJ; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Limdi NA; Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
  • Mittendorf KF; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN.
  • Murphy SN; Department of Neurology, Massachusetts General Hospital, Boston, MA.
  • Orlando L; Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC.
  • Prows CA; Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Rasmussen LV; Department of Preventive Medicine, Northwestern University, Chicago, IL.
  • Rasmussen-Torvik L; Department of Preventive Medicine, Northwestern University, Chicago, IL.
  • Rowley R; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
  • Sawicki KT; Department of Cardiology and Center for Genetic Medicine, Northwestern University, Chicago, IL.
  • Schmidlen T; Invitae, San Francisco, CA.
  • Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Veenstra D; School of Pharmacy, University of Washington, Seattle, WA.
  • Velez Edwards DR; Division of Quantitative Science, Department of Obstetrics and Gynecology, Department of Biomedical Sciences, Vanderbilt University Medical Center, Nashville, TN.
  • Absher D; Kaiser Permanente Research Bank, Oakland, CA.
  • Abul-Husn NS; Institute for Genomic Health, Department of Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Alsip J; UAB Medicine Enterprise, Birmingham, AL.
  • Bangash H; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
  • Beasley M; Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL.
  • Below JE; Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN.
  • Berner ES; Department of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL.
  • Booth J; Department of Emergency Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY.
  • Cimino JJ; Division of General Internal Medicine and the Informatics Institute, Department of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
  • Connolly J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Davis P; Department of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
  • Devine B; School of Pharmacy, University of Washington, Seattle, WA.
  • Fullerton SM; Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA.
  • Guiducci C; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Habrat ML; Department of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
  • Hain H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Genet Med ; 25(4): 100006, 2023 04.
Article em En | MEDLINE | ID: mdl-36621880
ABSTRACT

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. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk.

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. 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.

RESULTS:

GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022.

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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma / Genômica Tipo de estudo: Etiology_studies / Guideline / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma / Genômica Tipo de estudo: Etiology_studies / Guideline / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article