Evidence map›Paper›PMID 37620596›Full record

ReviewNature reviews. Genetics2024

Principles and methods for transferring polygenic risk scores across global populations.

Linda Kachuri, Nilanjan Chatterjee, Jibril Hirbo, Daniel J Schaid, Iman Martin, Iftikhar J Kullo, Eimear E Kenny, Bogdan Pasaniuc, Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group, John S Witte and 1 more

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 239 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
239citing papers in PubMed, 2 pooled it
–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

239 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  17. The Continuity Trap in Data Science Health Research.Journal of medical Internet research · 2026
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179 more citing papers are in PubMed but not listed here.

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

11 authors.

Linda KachuriDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-3226-4727
Nilanjan ChatterjeeDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-9060-008X
Jibril HirboDepartment of Medicine Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Daniel J SchaidDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Iman MartinDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD, USA.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6524-3471
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bogdan PasaniucDepartment of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group
John S WitteDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA. jswitte@stanford.edu.ORCID http://orcid.org/0000-0003-0146-1434
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. tge1@mgh.harvard.edu.ORCID http://orcid.org/0000-0003-4785-4444

Funding

Polygenic Risk Score Methods Development Consortium Coordinating CenterU01HG011697 · NHGRI · UNIVERSITY OF WASHINGTON · PI Kenneth M. Rice · 2021 to 2026
$8.8M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · NHGRI · BROAD INSTITUTE, INC. · PI Alisa Knodle Manning, Josep Maria Mercader · 2021 to 2026
$5.7M
Enabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5M
Polygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, ALEXANDER P REINER · 2021 to 2026
$5.4M
PRS Center for Admixed Populations (CAPE)U01HG011715 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Eimear Elizabeth Kenny, Leslie A Lange · 2021 to 2026
$5.2M
Leveraging Prospective Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk ScoresU01CA261339 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fei Chen, David V Conti · 2021 to 2026
$5.2M
Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry - Study SitesU01HG011717 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI ADEBAMOWO, SALLY NNEOMA, TAYO, BAMIDELE OLUSEGUN · 2021 to 2025
$4.6M
Precision Prostate Cancer Screening with Genetically Adjusted Prostate-Specific Antigen LevelsR01CA241410 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI John S. Witte · 2020 to 2026
$3.7M
Polygenic Risk of Disease in Populations of Diverse AncestryU01HG011710 · NHGRI · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2021 to 2025
$3.2M
Robust Methods for Polygenic Analysis to Inform Disease Etiology and Enhance Risk PredictionR01HG010480 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI CHATTERJEE, NILANJAN · 2019 to 2023
$2.8M
Multifactoral breast cancer risk prediction accounting for ethnic and tumor diversityU01CA249866 · NCI · JOHNS HOPKINS UNIVERSITY · PI CHATTERJEE, NILANJAN · 2020 to 2023
$2.3M
NCI NIH HHS R00 CA246076NCI NIH HHS R01 CA241410NCI NIH HHS U01 CA249866NCI NIH HHS U01 CA261339NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R01 HG010480NHGRI NIH HHS R01 HG012354NHGRI 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 HG011723NIGMS NIH HHS R35 GM140487
6 · The paper itself

Abstract

Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePrecision MedicineRisk Factors

Identifiers

PMID37620596
PMCPMC10961971

What OpenQuestion 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 OpenQuestion graph.