Journal
HUMAN GENETICS
Volume 141, Issue 11, Pages 1697-1704Publisher
SPRINGER
DOI: 10.1007/s00439-022-02452-x
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Funding
- National Institutes of Health Common Fund H3ABioNet grant [U24HG006941]
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Genomic medicine aims to improve health using individual genomic data, but its clinical utility in polygenic traits is less evident. Although polygenic risk scores have potential clinical application, further research is needed.
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.
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