Evidence mapPaperPMID 41286102Full record

ReviewNature genetics2025

Recommendations for responsible use of population descriptors in polygenic risk score development.

Johanna L Smith, Clement A Adebamowo, Sally N Adebamowo, Burcu F Darst, Stephanie M Fullerton, Stephanie M Gogarten, Marwan E Hamed, Jibril B Hirbo, Micah R Hysong, Angad Singh Johar and 17 more

Abstract readReview
In one paragraph

Review in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

27 authors.

Johanna L SmithDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-5861-0413
Clement A AdebamowoDepartment of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-6571-2880
Sally N AdebamowoDepartment of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-4713-2433
Burcu F DarstPublic Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-6205-4632
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-0938-6048
Stephanie M GogartenDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Marwan E HamedDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Jibril B HirboDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-8932-7311
Micah R HysongDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0003-2460-4012
Angad Singh JoharMenzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID http://orcid.org/0000-0001-9698-3352
Alyna T KhanDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Iftikhar J KulloDivision of Cardiovascular Medicine, Cardiovascular Research Center and the Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
Iain R KonigsbergDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Peter KraftDepartment of Epidemiology, Harvard University, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4472-8103
Leslie A LangeDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Yun LiDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Alicia R MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0241-3522
Sarah C NelsonDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-2109-6465
Ananyo ChoudhurySydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0001-8225-9531
Michèle RamsaySydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0002-4156-4801
Ewan K CobranDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-1842-312X
Daniel J SchaidDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-1457-6433
Jayati SharmaDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.
Ying WangAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7808-6279
Genevieve L WojcikDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-7206-8088
Polygenic Risk Methods Development (PRIMED) Consortium
Quan SunDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. sunq@chop.edu.ORCID http://orcid.org/0000-0001-8324-2803

Funding

CARDIOVASOLOGYT32HL007111 · MAYO CLINIC ROCHESTER · 1985 to 2025
$2.4M
Polygenic Risk Score Methods Development Consortium Coordinating CenterU01HG011697 · UNIVERSITY OF WASHINGTON · 2025 to 2025
$1.4M
Leveraging Prospective Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk ScoresU01CA261339 · UNIVERSITY OF SOUTHERN CALIFORNIA · 2025 to 2025
$1.0M
Enabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · MASSACHUSETTS GENERAL HOSPITAL · 2025 to 2025
$983k
Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · BROAD INSTITUTE, INC. · 2025 to 2025
$949k
Polygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · UNIV OF NORTH CAROLINA CHAPEL HILL · 2025 to 2025
$948k
PRS Center for Admixed PopulationsU01HG011715 · UNIVERSITY OF PENNSYLVANIA · 2025 to 2025
$912k
Comprehensive Polygenic Risk Profiling Across Multiple Health Outcomes (CARDINAL)U01HG011717 · UNIVERSITY OF MARYLAND BALTIMORE · 2025 to 2025
$886k
Polygenic Risk of Disease in Populations of Diverse AncestryU01HG011710 · MAYO CLINIC ROCHESTER · 2025 to 2025
$592k
NCI NIH HHS U01 CA261339NHGRI NIH HHS U01 HG011697NHGRI NIH HHS U01 HG011710NHGRI NIH HHS U01 HG011715NHGRI NIH HHS U01 HG011717NHGRI NIH HHS U01 HG011719NHGRI NIH HHS U01 HG011720NHGRI NIH HHS U01 HG011723NHLBI NIH HHS T32 HL007111U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) HL07111-45U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01CA261339U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011697U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011710U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011715U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011717U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011719U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011720U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011723
6 · The paper itself

Abstract

The recent report from the National Academies of Sciences, Engineering and Medicine emphasizes the importance of detailed and tailored use of population descriptors in genomic analyses, but specific guidance for genomic data analysts is still lacking. In this Perspective, we focus on polygenic risk score (PRS) development and demonstrate that population descriptors are explicitly or implicitly involved in every step of the process. Attention to this matter is both an analytical concern and an ethical concern, as each decision has an impact on PRS results and performance across diverse populations. Drawing from the experience of the Polygenic Risk Methods Development (PRIMED) Consortium, we offer recommendations for applying population descriptors throughout the entire process of PRS development, validation and application. We urge the research community, particularly data analysts, to critically evaluate and justify their choices when using these descriptors to ensure both scientific rigor and research integrity.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsMultifactorial InheritanceGenetic Risk ScoreHumansRisk AssessmentRisk Factors

Identifiers

PMID41286102
PMCPMC12817171

What Socratic holds

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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.