Polygenic Risk Score: Opportunities and Challenges; [نمرهی خطر پلیژنیک: فرصتها و چالشها] Publisher



Najafipour M ; Kamali Z ; Vaez A
Source: Journal of Isfahan Medical School Published:2025

Abstract

Background: Since the report of the first genome-wide association study in 2007, the genetic content of millions of human samples has been examined, leading to the identification of thousands of genetic variants associated with different diseases. The calculated combinatorial effects of these genetic variants, known as the Polygenic Risk Score (PRS), partially reflect an individual’s genetic susceptibility to diseases. Methods: This article starts with disease genomics, summarizes the development of PRSs from genomic study results, their current role in research and beyond by giving real examples, the challenges they face, and their prospects in clinical and public health applications by reviewing existing scientific literature. Findings: Continuous advances in the development of PRSs offer significant potential for improving prediction, screening, early diagnosis, and prognosis of diseases, and can play an effective role in realizing personalized medicine and optimizing health system strategies. However, challenges such as the need for larger genotypic data and a deeper understanding of ethical and social dimensions still hinder their widespread application in the clinical stage. As research continues and these obstacles are overcome, the future of this technology in medicine looks promising. Conclusion: Enhancing the quantity and quality of genotypic data, along with the development of innovative solutions, could address these technical and ethical-social challenges. Once these obstacles are overcome, polygenic risk scoring has the potential to become a reliable method for disease prediction and prevention. With further advancements, PRSs hold promise as efficient and reliable tools for predicting and preventing diseases. © 2025, Isfahan University of Medical Sciences(IUMS), All rights reserved.