Kumuthini, Judit and Zick, Brittany and Balasopoulou, Angeliki and Chalikiopoulou, Constantina and Dandara, Collet and El-Kamah, Ghada and Findley, Laura and Katsila, Theodora and Li, Rongling and Bon Maceda, Ebner and Monye, Henrietta and Rada, Gabriel and Thong, Meow-Keong and Wanigasekera, Thilina and Kennel, Hannah and Marimuthu, Veeramani and Williams, Marc S. and Al-Mulla, Fahd and Abramowicz, Marc and Investigators, G2MC Evidence (2022) The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review. Human Genetics, 141 (11). pp. 1697-1704. ISSN 0340-6717, DOI https://doi.org/10.1007/s00439-022-02452-x.
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Funders: | United States Department of Health & Human Services National Institutes of Health (NIH) - USA [U24HG006941] |
| Uncontrolled Keywords: | Coronary-heart-disease |
| Subjects: | R Medicine |
| Divisions: | Faculty of Medicine |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 15 Sep 2023 04:16 |
| Last Modified: | 15 Sep 2023 04:16 |
| URI: | http://eprints.um.edu.my/id/eprint/41252 |
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