TL;DR
The current state of bench-to-bedside translation of polygenic risk scores (PRS) is reviewed and it is shown that quality standards must be established to ensure that the potential of PRS can be effectively translated into routine clinical practice.
Twenty-five years after the draft of the human genome sequence, genomics has revolutionized many areas of biology, the diagnosis of familial and early-onset diseases, and the development of targeted therapies, particularly in oncology. Genomic knowledge has had little effect on the diagnosis and treatment of most commo...
This review outlines four major PRS-informed design strategies: tail sampling based on PRS extremes; discordance sampling based on mismatch between phenotype and PRS-implied risk; conditional and stratified genome-wide association analyses using PRS to adjust for / partition background risk; and residual phenotype anal...
This review summarizes the principles of PRS, the main sources of variability between models, and its potential applications in risk stratification and personalized cancer screening and addresses limitations in transferability, the need for calibration, and the currently limited evidence for improvements in hard clinic...
Study objective Polygenic risk scores (PRS) are increasingly recognized for their potential to improve coronary artery disease (CAD) prediction beyond traditional clinical models. This study evaluated the utility of genome-wide association study (GWAS) - derived PRS and pathway-specific PRS (PS-PRS) in the Latvian popu...
Polygenic risk scores (PRS) have emerged as promising tools for stratifying inherited disease risk, yet their translation into clinical practice is constrained by a critical and frequently unmet requirement: demonstration that scores derived in one cohort retain discriminatory value when applied independently in a diff...
BCa and inherited genetic susceptibility jointly contribute to increased risk of multiple common diseases, supporting the integration of genetic risk stratification into survivorship care.
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