Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements

Polygenic risk scores (PRSs) are becoming an important component of precision medicine, supporting earlier disease prediction and preventive strategies. This review summarizes current applications of PRS, future directions, and key considerations for their use in varied health contexts, including low- and middle-income countries (LMICs). Economic issues such as the declining cost of genetic testing, direct-to-consumer services, and reimbursement policies are discussed alongside ethical challenges including ancestry bias, privacy, informed consent, and clinical interpretation. Recent advances in artificial intelligence (AI) and machine learning (ML) are highlighted for their role in improving PRS accuracy, data analysis, and health system integration. Federated learning (FL) is also considered as a method for privacy-preserving data sharing across institutions. Finally, we emphasize the need for equitable global collaboration and capacity building to ensure responsible and accessible implementation of PRS in public health.

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Publication Details

Journal
iScience
Published
2025-12-09
DOI
https://doi.org/10.1016/j.isci.2025.114375
Citations
1
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
1.82
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Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements

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article

Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements

Nguyen Phuong, Chien Dinh Huynh, Lê Minh Hưng, Ning Han, Le Quoc Thang, Dinh Tran Quynh Ngan, Hoang Mai Duy, Nguyen The Thoi
article en
1 citations

Abstract

Polygenic risk scores (PRSs) are becoming an important component of precision medicine, supporting earlier disease prediction and preventive strategies. This review summarizes current applications of PRS, future directions, and key considerations for their use in varied health contexts, including low- and middle-income countries (LMICs). Economic issues such as the declining cost of genetic testing, direct-to-consumer services, and reimbursement policies are discussed alongside ethical challenges including ancestry bias, privacy, informed consent, and clinical interpretation. Recent advances in artificial intelligence (AI) and machine learning (ML) are highlighted for their role in improving PRS accuracy, data analysis, and health system integration. Federated learning (FL) is also considered as a method for privacy-preserving data sharing across institutions. Finally, we emphasize the need for equitable global collaboration and capacity building to ensure responsible and accessible implementation of PRS in public health.

iScienceVol. 29(1)
VinUniversity (VN), 108 Military Central Hospital (VN)
Openalex Percentile: Top 11%
Genetic Associations and Epidemiology
1.82
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