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

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 (R2 = 0.995), identifying a projected inflection point in 2026 and suggesting transition toward field maturation. While publication volume increased, mean citations per article declined over time, reflecting a shift from foundational studies to high-volume research output. PRS research was highly concentrated geographically and institutionally, with the United States, China, and the United Kingdom accounting for the majority of publications, and a small number of elite academic centers dominating output. International collaboration was substantial but unevenly distributed. Funding analysis revealed a pronounced core-periphery structure, with a limited set of public and philanthropic funders accounting for approximately one quarter of all funding acknowledgements. Thematic analyses showed a progression from foundational genetic concepts toward disease-specific risk prediction and clinical applications, particularly in neuropsychiatric, cardiometabolic, and oncological domains. 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.