ReviewAmerican journal of human genetics2024
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
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Review in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12citing papers in PubMed
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Who cites it
12 citing papers in PubMed.
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions.Nature genetics · 2026Article
- A Narrative Review of Ethical Issues in Precision Psychiatry: Mapping Unresolved Tensions Across Modalities.Journal of personalized medicine · 2026Review
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation.Circulation. Genomic and precision medicine · 2025Article
- Ethical decision-making for AI in mental health: the Integrated Ethical Approach for Computational Psychiatry (IEACP) framework.Psychological medicine · 2025Review
- Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review.F&S reviews · 2025Article
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Multiancestry transferability of a polygenic risk score for diverticulitis.BMJ open gastroenterology · 2024Article
- Dual exposure-by-polygenic score interactions highlight disparities across social groups in the proportion needed to benefit.medRxiv : the preprint server for health sciences · 2024Article
- The Legal Uncertainties of Sociogenomic Polygenic Scores.Harvard journal of law & technology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors.
Anna C F LewisEdmond and Lily Safra Center for Ethics, Harvard University, Cambridge, MA, USA; Department of Genetics, Brigham and Women's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: aclewis@bwh.harvard.edu.
Rex L ChisholmCenter for Genetic Medicine, Northwestern University, Evanston, IL, USA.
John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Edward D EsplinInvitae, San Francisco, CA, USA.
Joe GlessnerCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Adam GordonCenter for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Pharmacology, Northwestern University, Evanston, IL, USA.
Robert C GreenDepartment of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Ariadne Labs, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Gail P JarvikDivision of Medical Genetics, Department of Medicine and Department of Genome Science, University of Washington Medical Center, Seattle, WA, USA.
Elizabeth KarlsonDepartment of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Mass General Brigham Personalized Medicine, Boston, MA, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine, New York City, NY, USA; Center for Clinical Translational Genomics, Icahn School of Medicine, New York City, NY, USA; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine, New York City, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine, New York City, NY, USA.
Leah KottyanCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 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.
Yuan LuoDepartment of Preventive Medicine, Northwestern University, Evanston, IL, USA.
Lisa J MartinCincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Emma PerezMass General Brigham Personalized Medicine, Boston, MA, USA.
Megan J PuckelwartzCenter for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Pharmacology, Northwestern University, Evanston, IL, USA.
Laura J Rasmussen-TorvikCenter for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Preventive Medicine, Northwestern University, Evanston, IL, USA.
Maya SabatelloCenter for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York City, NY, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, New York City, NY, USA.
Richard R SharpBiomedical Ethics Program, Mayo Clinic, Rochester, MN, USA.
Jordan W SmollerCenter for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; Psychiatric & Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
Rene SterlingDivision of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Shannon TerekCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Stephanie M FullertonDepartment of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA.
Funding
The Harvard Clinical and Translational Science CenterUL1TR002541 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2018 to 2022
$93.0MThe 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
$10.4MUtilizing 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
$10.3MIntegrating Genomic Risk Assessment for Disease Management in a Clinical PopulationU01HG011167 · NHGRI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI JAMES J CIMINO, NITA A LIMDI · 2020 to 2026
$9.3MNorthwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI REX L CHISHOLM, Elizabeth M McNally · 2020 to 2026
$7.4MPolygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2MVanderbilt Genome-Electronic Records (VGER) ProjectU01HG011181 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DAN M RODEN, Digna R Velez Edwards · 2020 to 2026
$7.0MNCATS NIH HHS UL1 TR002541NHGRI 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 HL133373
Abstract
The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results. Here, we outline the decisions faced and choices made by a large multi-site clinical implementation study returning PRSs to diverse participants in handling this issue of differential performance. Our approach to managing the complexities associated with the differential performance of PRSs serves as a case study that can help future implementers of PRSs to plot an anticipatory course in response to this issue.
Indexed as
Genetic Predisposition to DiseaseMultifactorial InheritanceGenetic Risk ScoreGenetic TestingGenome-Wide Association StudyHumansRisk AssessmentRisk Factors
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