Abstract

REAL, Álvaro del  and  RIANCHO, José A. Polygenic risk scores (PRS) – A tool for disease prediction and personalized medicine. Rev Osteoporos Metab Miner [online]. 2023, vol.15, n.4, pp.154-159.  Epub Feb 19, 2024. ISSN 2173-2345.  https://dx.doi.org/10.20960/revosteoporosmetabminer.00029.

Over the past decade, genomics and high-throughput sequencing have revolutionized our understanding of complex diseases. Polygenic risk scores (PRS) have emerged as a promising tool for predicting diseases and personalizing treatments. However, their implementation requires confirmation of real utility, which raises significant ethical and privacy challenges.

PRS are used to identify high-risk individuals and guide personalized treatments. Their potential is evident in diseases such as cancer or osteoporosis, where they improve risk stratification and enable the selection of more effective treatments. However, PRS have multiple limitations, including lack of individual accuracy, variability among different populations, and the inability to account for the impact of environmental factors. Clinical interpretation and ethical, legal, and social implications (ELSI) are highly relevant issues in this field.

In the future, PRS are expected to improve their predictive accuracy by combining clinical risk factors and adapting to populations of various ethnicities. Consequently, PRS are expected to play a central role in personalized medicine.

Keywords : Polygenic risk scores; Personalized medicine; Genome-wide association studies.

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