Polygenic risk scores and personalized approaches to cardiometabolic disease prevention and treatment: A short review

Abstract

Accounting for the role of genetic variants in disease is increasingly gaining ground as a major contributing factor to the maximization of successful precision medicine and personalized nutrition approaches. An aggregated technique to quantifying genetic effect refers to the development and use of disease-specific Polygenic Risk Scores (PRSs) deriving from the sum of the weighted effects of multiple disease-related Single Nucleotide Polymorphisms (SNPs), mainly from Genome-Wide association studies (GWAS). Integration of PRS use in medical and nutritional practice is largely discussed in current literature, with special attention to: i) disease prediction accuracy after PRS consideration and their potential utility; ii) the role of current methodological approaches used to derive reliable results and the effect of limitations such as ancestry or population size; iii) the familiarization of healthcare professionals with the meaning of genetic information; and iv) the context-based interpretations of PRS results in the formation of personalized advice. In this context, the present short review aims to summarize current findings on PRS use and utility in cardiometabolic, weight-related disorders and discuss future directions for their potential integration in the practice of personalized nutrition.