Evidence mapPaperPMID 41875897Full record

ArticleAmerican journal of human genetics2026

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.

Nita Limdi, T Mark Beasley, Josh Cortopassi, Brittney Davis, Hana Bangash, Jingheng Chen, Rex L Chisholm, Wendy K Chung, James J Cimino, John Connolly and 65 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

75 authors.

Nita LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: nlimdi@uabmc.edu.
T Mark BeasleyDepartment of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA.
Josh CortopassiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Brittney DavisDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Jingheng ChenDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Rex L ChisholmCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
James J CiminoDepartment of Biomedical Informatics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.
John ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
David R CrosslinDivision of Biomedical Informatics and Genomics, John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
Kyle W DavisDivision of Genetic Medicine and Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
Alanna DiVietroVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Edward D EsplinStanford University, Stanford, CA, USA.
Bob FreimuthDepartment of AI and Informatics, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Adam GordonCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Marwan HamedDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA; Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA.
Megan HeVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Christin HoellCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Ingrid HolmDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
George HripscakDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Margurite R IrvinSchool of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Gail P JarvikDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Dean KaraviteDepartment of Biomedical Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elizabeth W KarlsonDivision of Rheumatology, Inflammation, and Immunity, Department of Medicine, Massachusetts General Brigham, Boston, MA, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Atlas KhanDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Sarah KnerrDepartment of Health Services, University of Washington School of Public Health, Seattle, WA, USA.
Bruce KorfDepartment of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.
Leah KottyanDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Iftikhar KulloDivision of Cardiovascular Medicine, Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
Katie LarkinBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Niall LennonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Jodell E LinderVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Teri ManolioDivision of Genomic Medicine, NHGRI, NIH, Bethesda, MD, USA.
Lisa J MartinDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Elizabeth M McNallyCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Jennifer MorseVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Shawn MurphyDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Bahram NamjouDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Jacqueline A OdgisInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lori OrlandoDepartment of Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Jennifer PachecoCenter for Genetic Medicine, Northwestern University, Evanston, IL, USA.
Josh F PetersonDepartment Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Daniel E Pineda-AlvarezLabcorp (formerly Invitae Corp.), San Francisco, CA, USA.
Cindy ProwsDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Megan PuckelwartzCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Jasmine PurcellCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laura Rasmussen-TorvikDepartment of Preventative Medicine, Northwestern University, Chicago, IL, USA.
Heidi RehmBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Dan M RodenDepartments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Elisabeth A RosenthalDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Robb RowleyDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Maya SabatelloCenter for Precision Medicine and Genomics, Columbia University Irving Medical Center, Columbia University, New York, NY, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, Columbia University, New York, NY, USA.
Daniel SchaidDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Richard SharpDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Johanna L SmithDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Jordan W SmollerDepartment of Psychiatry and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Emily R SoperInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Rene SterlingDivision of Genomes and Society, NHGRI, NIH, Bethesda, MD, USA.
Sabrina A SuckielInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shannon TerekCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jeritt ThayerDepartment of Biomedical Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Yi-Lee TingLabcorp (formerly Invitae Corp.), San Francisco, CA, USA.
Hemant TiwariDepartment of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA.
Digna Velez-EdwardsDivision of Quantitative Science, Department of Obstetrics and Gynecology, Department of Biomedical Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
Kavishwar B WagholikarDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Theresa WalunasDepartment of Medicine and Center for Health Information Partnerships, Northwestern University, Chicago, IL, USA.
Wei-Qi WeiDepartment Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Chunua WengDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Georgia WiesnerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Noura S Abul-HusnInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 23andMe Research Institute, Palo Alto, CA, USA.
David L VeenstraSchool of Pharmacy, University of Washington, Seattle, WA, USA.

Funding

Genomic risk in clinical care to promote preventive health in New York City patientsU01HG011176 · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2025 to 2025
$936k
Integrating Genomic Risk Assessment for Disease Management in a Clinical PopulationU01HG011167 · UNIVERSITY OF ALABAMA AT BIRMINGHAM · 2025 to 2025
$860k
Polygenic and Integrated Genomic Risk Assessment for Healthier U.S. Families U01HG011172 · CINCINNATI CHILDRENS HOSP MED CTR · 2025 to 2025
$843k
EHR-based Genome-Informed Risk Assessment and CommunicationU01HG008680 · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2025 to 2025
$817k
eMERGE IV Northwest: A partnership to evaluate the use of genomic information in health careU01HG008657 · UNIVERSITY OF WASHINGTON · 2025 to 2025
$802k
EHR-based Genomic Discovery and Implementation [Funded Extension]U01HG006379 · MAYO CLINIC ROCHESTER · 2025 to 2025
$724k
Extension of Northwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NORTHWESTERN UNIVERSITY · 2025 to 2025
$703k
eMERGE Administrative Supplement 2025-2026U01HG011175 · CHILDREN'S HOSP OF PHILADELPHIA · 2025 to 2025
$334k
NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008680NHGRI 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 HG011181
6 · The paper itself

Abstract

The Electronic Medical Records and Genomics (eMERGE) Network developed and implemented a genome-informed risk assessment (GIRA) to communicate genomic (polygenic risk scores [PRSs], integrated risk scores [IRSs], and monogenic results), clinical, and family history-based risk for 11 chronic diseases and provide recommended healthcare recommendations. GIRA reports have now been returned to 23,840 participants and their providers in a large prospective cohort study. We present here the study design and analysis framework for assessing the attributable impact of GIRA return. Pre-specified outcomes include (1) provider/participant adoption of recommended healthcare actions, (2) new diagnosis of disease, (3) treatment initiation/intensification, and (4) clinical outcomes (surrogate markers or clinical events). We assess outcomes in high risk vs. not-high-risk participants, adjusting for covariates. We evaluate the effect of PRS/IRS at pre-established high-risk thresholds using regression discontinuity (RD), a quasi-experimental method that mimics randomization near a cutoff, enabling estimation of causal effects and controlling for unobserved confounders. Monogenic and family history-based risk stratification are analyzed using logistic regression. With 23,840 participants and 12 months of follow-up, the study is powered to detect differences of 2%-11% with 80% power (α = 0.05 in the adoption outcome). Longer follow-up will be required to enable assessment of new disease diagnosis, treatment changes, and clinical outcomes. Through innovative RD analyses and defined outcomes and comparison groups, this study will provide new insights into the real-world clinical impact of genomic risk assessment, address critical evidence gaps, advance understanding of genomic medicine outcomes, and inform future research.

Indexed as

Electronic Health RecordsGenome, HumanGenomicsFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreHumansMaleProspective StudiesReturn of Individual Research ResultsRisk Assessmentchronic diseaseelectronic health recordgenome-informed disease riskgenomic medicinepolygenic risk scoreregression discontinuity

Identifiers

PMID41875897
PMCPMC13087475

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.