Evidence map›Paper›PMID 42023115›Full record

SynthesisFrontiers in medicine2026

Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation.

Fouad Bitar, Rana Zareef, Roukoz Abou-Karam, Georges Nemer, Fadi F Bitar, Akl C Fahed, Zahi Abdul Sater

Abstract readSystematic Review
In one paragraph

Synthesis in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Fouad BitarCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Rana ZareefChildren's Heart Center, Department of Pediatrics and Adolescent Medicine, American University Beirut-Medical Center, Beirut, Lebanon.
Roukoz Abou-KaramCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Georges NemerCollege of Health and Life Sciences at Hamad Bin Khalifa University, Doha, Qatar.
Fadi F BitarChildren's Heart Center, Department of Pediatrics and Adolescent Medicine, American University Beirut-Medical Center, Beirut, Lebanon.
Akl C FahedCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Zahi Abdul SaterCollege of Public Health, Phoenicia University, Mazraat El Daoudiyeh, Lebanon.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Polygenic risk scores (PRS) have emerged as a central tool in genomic medicine, enabling risk prediction for common, complex diseases. Despite rapid methodological and clinical advances, concerns remain regarding the structural organization of PRS research, including geographic concentration, funding dominance, and limited global representation. A systematic, field-level assessment of PRS research evolution is needed to inform equitable and sustainable translation. Methods: We conducted a systematic bibliometric review of PRS research published between 1999 and 2024, using the Web of Science Core Collection to map publication growth, geographic and institutional contributions, funding patterns, collaboration networks, and thematic evolution. Results: The final dataset comprised 10,269 PRS-related publications across 2,185 sources, exhibiting a strong annual growth rate of 21.56%. Publication output accelerated markedly after 2017, reaching 1,580 articles in 2024. Logistic modeling demonstrated an excellent fit ( Conclusion: PRS research has evolved into a mature, high-volume field with expanding clinical relevance, yet remains structurally concentrated in terms of geography, institutions, and funding. While bibliometric analyses do not directly reflect the ancestry composition of study populations, the observed concentration patterns highlight the importance of continued efforts toward broad collaboration, diversified funding landscapes, and transparent reporting practices to support globally representative and clinically robust implementation of PRS in precision medicine.

Indexed as

bibliometricgenetic risk scorepolygenic risk scorepolygenic scoreprecision medicine

Identifiers

PMID42023115
PMCPMC13096031

What OpenQuestion holds

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LicenceCC BY
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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.