The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
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Published:2022-04-30
Issue:11
Volume:141
Page:1697-1704
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ISSN:0340-6717
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Container-title:Human Genetics
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language:en
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Short-container-title:Hum Genet
Author:
Kumuthini JuditORCID, Zick Brittany, Balasopoulou Angeliki, Chalikiopoulou Constantina, Dandara ColletORCID, El-Kamah Ghada, Findley Laura, Katsila TheodoraORCID, Li Rongling, Maceda Ebner BonORCID, Monye Henrietta, Rada Gabriel, Thong Meow-KeongORCID, Wanigasekera Thilina, Kennel Hannah, Marimuthu Veeramani, Williams Marc S.ORCID, Al-Mulla FahdORCID, Abramowicz MarcORCID,
Abstract
AbstractGenomic 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.
Funder
National Human Genome Research Institute
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
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