The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
Document Type
Article
Publication Date
11-1-2022
Abstract
Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice.
Keywords
Coronary-heart-disease
Divisions
fac_med
Funders
United States Department of Health & Human Services National Institutes of Health (NIH) - USA [U24HG006941]
Publication Title
Human Genetics
Volume
141
Issue
11
Publisher
Springer
Publisher Location
ONE NEW YORK PLAZA, SUITE 4600, NEW YORK, NY, UNITED STATES