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Polygenic risk scores in clinical applications - opportunities and challenges
Johannes Schumacher1, Markus M Nöthen2, Stefanie Heilmann-Heimbach2
1Philipps University Marburg & University Hospital of Marburg Institute of Human Genetics Baldingerstr. 35043 Marburg Germany.
None:
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.
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