ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Open access · greenAbstract read
In one paragraph
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 1 pooled it
61.1field-weighted citation impact, top 1% of its field
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
93 citing papers in PubMed, 1 synthesis or guideline pooled it, 108 citations in OpenAlex.
- Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.The lancet. Diabetes & endocrinology · 2026Pooled it
- Development and pilot testing of a prostate cancer polygenic risk report.BMC medical genomics · 2026Trial
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Using a translational data platform to create clinical-grade genome-informed risk assessments.JAMIA open · 2026Article
- Inherited risk of coronary artery disease: redefining care with imaging and genetics.Nature reviews. Cardiology · 2026Review
- Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Review
- An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Contextualizing the Utility of Polygenic Risk Scores using Absolute Risk Models in Diverse Ancestry Populations.medRxiv : the preprint server for health sciences · 2026Article
- Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps.Psychiatric genetics · 2026Review
- Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction.medRxiv : the preprint server for health sciences · 2026Article
- Admixture-informed polygenic risk reporting using the ePRS framework.Nature communications · 2026Article
- Analytic Choices Shape Genomic Risk Estimates from Electronic Health Records: Coronary Heart Disease in eMERGE IV.medRxiv : the preprint server for health sciences · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Characterizing healthcare provider experiences delivering genomic testing in a Federally Qualified Health Center.Communications medicine · 2026Article
- Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.American journal of human genetics · 2026Article
- The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.American journal of human genetics · 2026Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
107 authors at 20 institutions in 4 countries.
Jodell E LinderVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Aimee AllworthDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
Harris T BlandDepartment of Biomedical Informatics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
Pedro J CaraballoDepartment of Internal Medicine and Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
Rex L ChisholmCenter for Genetic Medicine, Northwestern University, Chicago, IL.
Ellen Wright ClaytonCenter for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN.
David R CrosslinDivision of Biomedical Informatics and Genomics, John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA.
Ozan DikilitasMayo Clinician Investigator Training Program, Department of Internal Medicine and Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Alanna DiVietroVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Edward D EsplinInvitae, San Francisco, CA.
Sophie FormanVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Robert R FreimuthDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN.
Adam S GordonDepartment of Pharmacology, Feinberg School of Medicine, and Center for Genetic Medicine, Northwestern University, Chicago, IL.
Richard GreenDepartment of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
Maegan V HardenBroad Institute of MIT and Harvard, Cambridge, MA.
Ingrid A HolmDivision of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA.
Gail P JarvikDivision of Medical Genetics, Department of Medicine and Department of Genome Science, University of Washington Medical Center, Seattle, WA.
Elizabeth W KarlsonDivision of Rheumatology, Inflammation and Immunity, Department of Medicine, Brigham and Women's Hospital, Boston, MA.
Sofia LabrecqueVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Niall J LennonBroad Institute of MIT and Harvard, Cambridge, MA.
Nita A LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Kathleen F MittendorfVanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN.
Shawn N MurphyDepartment of Neurology, Massachusetts General Hospital, Boston, MA.
Lori OrlandoCenter for Applied Genomics and Precision Medicine, Duke University, Durham, NC.
Cynthia A ProwsDivisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Luke V RasmussenDepartment of Preventive Medicine, Northwestern University, Chicago, IL.
Laura Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University, Chicago, IL.
Robb RowleyDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
Konrad Teodor SawickiDepartment of Cardiology and Center for Genetic Medicine, Northwestern University, Chicago, IL.
Tara SchmidlenInvitae, San Francisco, CA.
Shannon TerekCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
David VeenstraSchool of Pharmacy, University of Washington, Seattle, WA.
Digna R Velez EdwardsDivision of Quantitative Science, Department of Obstetrics and Gynecology, Department of Biomedical Sciences, Vanderbilt University Medical Center, Nashville, TN.
Devin AbsherKaiser Permanente Research Bank, Oakland, CA.
Noura S Abul-HusnInstitute for Genomic Health, Department of Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Jorge AlsipUAB Medicine Enterprise, Birmingham, AL.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Mark BeasleyDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL.
Jennifer E BelowDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN.
Eta S BernerDepartment of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL.
James BoothDepartment of Emergency Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY.
James J CiminoDivision of General Internal Medicine and the Informatics Institute, Department of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
John ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Patrick DavisDepartment of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
Beth DevineSchool of Pharmacy, University of Washington, Seattle, WA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA.
Candace GuiducciBroad Institute of MIT and Harvard, Cambridge, MA.
Melissa L HabratDepartment of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
Heather HainCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Eden HaverfieldInvitae, San Francisco, CA.
Valentina HernandezMountain Park Health Center, Phoenix, AZ.
Christin HoellDepartment of Obstetrics & Gynecology and Center for Genetic Medicine, Northwestern University, Chicago, IL.
Martha Horike-PyneDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
George HripcsakDepartment of Biomedical Informatics, Columbia University Irving Medical Center, Columbia University, New York, NY.
Marguerite R IrvinDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL.
Christopher KachulisBroad Institute of MIT and Harvard, Cambridge, MA.
Dean KaraviteDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
Eimear E KennyInstitute for Genomic Health, Department of Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Atlas KhanDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Bruce KorfDepartment of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Leah KottyanThe Center for Autoimmune Genomics and Etiology, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Katie LarkinBroad Institute of MIT and Harvard, Cambridge, MA.
Cong LiuDepartment of Biomedical Informatics, Columbia University Irving Medical Center, Columbia University, New York, NY.
Edyta MalolepszaBroad Institute of MIT and Harvard, Cambridge, MA.
Teri A ManolioDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
Thomas MayElson S. Floyd College of Medicine, Washington State University, Vancouver, WA.
Elizabeth M McNallyCenter for Genetic Medicine, Northwestern University, Chicago, IL.
Frank MentchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Alexandra MillerDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Sean D MooneyDepartment of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA.
Priyanka MuraliDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
Brenda MutaiDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
Naveen MuthuDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
Bahram NamjouThe Center for Autoimmune Genomics and Etiology, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Emma F PerezDepartment of Medicine, Brigham and Women's Hospital, Mass General Brigham Personalized Medicine, Boston, MA.
Megan J PuckelwartzDepartment of Pharmacology, Feinberg School of Medicine, and Center for Genetic Medicine, Northwestern University, Chicago, IL.
Tejinder Rakhra-BurrisCenter for Applied Genomics and Precision Medicine, Duke University, Durham, NC.
Dan M RodenDepartments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Elisabeth A RosenthalDivision of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA.
Seyedmohammad SaadatagahDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Maya SabatelloDivision of Nephrology, Department of Medicine & Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, New York, NY.
Dan J SchaidDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
Baergen SchultzDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
Lynn SeaboltVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Gabriel Q ShaibiCenter for Health Promotion and Disease Prevention, Arizona State University, Phoenix, AZ.
Richard R SharpBiomedical Ethics Program, Department of Quantitative Health Science, Mayo Clinic, Rochester, MN.
Brian ShirtsDepartment of Laboratory Medicine & Pathology, University of Washington Medical Center, Seattle, WA.
Maureen E SmithDepartment of Cardiology and Center for Genetic Medicine, Northwestern University, Chicago, IL.
Jordan W SmollerDepartment of Psychiatry and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
Rene SterlingDivision of Genomics and Society, National Human Genome Research Institute, Bethesda, MD.
Sabrina A SuckielThe Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Jeritt ThayerDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
Hemant K TiwariDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL.
Susan B TrinidadDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA.
Theresa WalunasDepartment of Medicine and Center for Health Information Partnerships, Northwestern University, Chicago, IL.
Wei-Qi WeiDepartment of Biomedical Informatics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
Quinn S WellsDivision of Cardiovascular Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN.
Chunhua WengDepartment of Biomedical Informatics, Columbia University Irving Medical Center, Columbia University, New York, NY.
Georgia L WiesnerDivision of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN.
Ken WileyDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
eMERGE Consortium
Josh F PetersonCenter for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN. Electronic address: josh.peterson@vumc.org.
Vanderbilt University Medical Center · USUniversity of Washington Medical Center · USNorthwestern University · USChildren's Hospital of Philadelphia · USUniversity of Alabama at Birmingham · USColumbia University Irving Medical Center · USBroad Institute · USMayo Clinic in Arizona · USNational Human Genome Research Institute · USUniversity of Washington · USInvitae (United States) · USMayo Clinic in Florida · USCincinnati Children's Hospital Medical Center · USBrigham and Women's Hospital · USCenter for Genomic Science · ITDuke University · USMassachusetts General Hospital · USArizona State University · USBoston Children's Hospital · USET Enterprises (United Kingdom) · GB
Funding
Transform Dissemination and Implementation Science in CTSA ProgramsUL1TR002319 · NCATS · UNIVERSITY OF WASHINGTON · PI John K. Amory · 2017 to 2026
$100.0MClinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MSWOG NCORP Research BaseUG1CA189974 · NCI · THE HOPE FOUNDATION · PI CHARLES D. BLANKE, DAWN HERSHMAN · 2014 to 2026
$80.6MConduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MThe eMERGE Risk Assessment Network - Coordinating CenterU01HG011166 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Niall John Lennon, Joseph F. Peterson · 2020 to 2026
$16.8MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MGenomic risk in clinic care to promote health equity in New York City patientsU01HG011176 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NOURA SERENE ABUL-HUSN, Eimear Elizabeth Kenny · 2020 to 2026
$10.4MBuilding Interdisciplinary Research Careers in Women's HealthK12HD043483 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI HARTMANN, KATHERINE E, MAJOR, AMY S · 2002 to 2023
$10.3MUtilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3MNCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1 TR002319NCATS NIH HHS UL1 TR004419NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011166NHGRI NIH HHS U01 HG011167NHGRI NIH HHS U01 HG011169NHGRI NIH HHS U01 HG011172NHGRI NIH HHS U01 HG011175NHGRI NIH HHS U01 HG011176NHGRI NIH HHS U01 HG011181NHLBI NIH HHS K24 HL133373NHLBI NIH HHS R01 HL128075NIAMS NIH HHS K12 AR084232NICHD NIH HHS K12 HD043483NIH HHS S10 OD026880NIH HHS S10 OD030463
Abstract
purposeAssessing 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.
methodsTo 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.
resultsGIRAs 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.
conclusionReturn 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.
Indexed as
GenomeGenomicsHumansProspective StudiesRisk AssessmentRisk FactorsCommon variantsFamily historyGenotypingMonogenic risksPolygenic risk scores
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