Review proposes benchmarking standards for polygenic scores across diverse populations, indicating improving accuracy and equity.
Polygenic scores (PGS) are prospective tools for health screening, prevention and trials, but most are trained in European genome-wide association studies and lose accuracy and calibration in non-European populations and those of mixed ancestral heritage. Multi-ancestry methods are proliferating, yet benchmarking standards lag. This review focuses on benchmark design for cross-population prediction. We show how ancestry assignment, linkage disequilibrium references, variant sets, tuning and trait architecture shape apparent performance. We propose a scorecard spanning discrimination, calibration, equity gaps and compute cost, plus stress tests in diverse cohorts and realistic simulations. Finally. we outline a future vision of living, auditable benchmarking frameworks.
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Oselu et al. (2026) studied this question.
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