Evidence map›Paper›PMID 30926966›Full record

ReviewNature genetics2019

Clinical use of current polygenic risk scores may exacerbate health disparities.

Alicia R Martin, Masahiro Kanai, Yoichiro Kamatani, Yukinori Okada, Benjamin M Neale, Mark J Daly

Erratum issuedAbstract readReview
In one paragraph

Review in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1,749 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1,749citing 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

1,749 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
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  13. Childhood Correlates of Genetic Propensity to Personality Traits.medRxiv : the preprint server for health sciences · 2026
    Article
  14. Article
  15. Rare extreme polygenic risk scores strongly indicate Alzheimer's disease risk.medRxiv : the preprint server for health sciences · 2026
    Article
  16. Article
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1,689 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Alicia R MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. armartin@broadinstitute.org.ORCID http://orcid.org/0000-0003-0241-3522
Masahiro KanaiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5165-4408
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0001-8748-5597
Yukinori OkadaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-0311-8472
Benjamin M NealeAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752

Funding

Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI RAYMOND T CHUNG · 1991 to 2026
$35.3M
Generalizing polygenic risk prediction methods across populations for insights into psychiatric diseaseK99MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2018 to 2019
$262k
NIDDK NIH HHS P30 DK043351NIMH NIH HHS K99 MH117229
6 · The paper itself

Abstract

Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine. However, the major ethical and scientific challenge surrounding clinical implementation of PRS is that those available today are several times more accurate in individuals of European ancestry than other ancestries. This disparity is an inescapable consequence of Eurocentric biases in genome-wide association studies, thus highlighting that-unlike clinical biomarkers and prescription drugs, which may individually work better in some populations but do not ubiquitously perform far better in European populations-clinical uses of PRS today would systematically afford greater improvement for European-descent populations. Early diversifying efforts show promise in leveling this vast imbalance, even when non-European sample sizes are considerably smaller than the largest studies to date. To realize the full and equitable potential of PRS, greater diversity must be prioritized in genetic studies, and summary statistics must be publically disseminated to ensure that health disparities are not increased for those individuals already most underserved.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHealthcare DisparitiesHumansMultifactorial InheritancePrecision MedicineRisk FactorsWhite People

Identifiers

PMID30926966
PMCPMC6563838

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

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.