Polygenic risk scores in clinical applications - opportunities and challenges.

Polygenic risk scores (PRS) are increasingly transitioning from research tools into instruments with direct clinical relevance. This review addresses both opportunities and challenges of PRS across disease contexts. Key applications include risk stratification in multifactorial and monogenic diseases, diagnostic support in etiologically heterogeneous disorders, and pharmacogenomic stratification. These are accompanied by substantial challenges, including limited transferability across diverse populations, insufficient methodological standardization, and barriers to effective risk communication. PRS hold considerable potential to contribute to a more individualized, predictive, and preventive medicine, provided that scientific rigor and responsibility guide their clinical translation.

© 2026 the author(s), published by De Gruyter.

PMID: 42416878