Polygenic risk scores: An overview from bench to bedside for personalised medicine

Cross, Benjamin, Turner, Richard and Pirmohamed, Munir ORCID: 0000-0002-7534-7266 (2022) Polygenic risk scores: An overview from bench to bedside for personalised medicine. FRONTIERS IN GENETICS, 13. 1000667-.

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Abstract

Since the first polygenic risk score (PRS) in 2007, research in this area has progressed significantly. The increasing number of SNPs that have been identified by large scale GWAS analyses has fuelled the development of a myriad of PRSs for a wide variety of diseases and, more recently, to PRSs that potentially identify differential response to specific drugs. PRSs constitute a composite genomic biomarker and potential applications for PRSs in clinical practice encompass risk prediction and disease screening, early diagnosis, prognostication, and drug stratification to improve efficacy or reduce adverse drug reactions. Nevertheless, to our knowledge, no PRSs have yet been adopted into routine clinical practice. Beyond the technical considerations of PRS development, the major challenges that face PRSs include demonstrating clinical utility and circumnavigating the implementation of novel genomic technologies at scale into stretched healthcare systems. In this review, we discuss progress in developing disease susceptibility PRSs across multiple medical specialties, development of pharmacogenomic PRSs, and future directions for the field.

Item Type:	Article
Uncontrolled Keywords:	metabolic disease, polygenic risk score, personalised medicine, pharmacogenomics, genetic risk score, cardiovascule disease, neuropsychiatric disorders, cancer
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology
Depositing User:	Symplectic Admin
Date Deposited:	07 Dec 2022 10:22
Last Modified:	18 Jan 2023 19:41
DOI:	10.3389/fgene.2022.1000667
Open Access URL:	https://doi.org/10.3389/fgene.2022.1000667
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3166538