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Limitations of Polygenic Risk Score Evidence on the Use of Preimplantation

TAIPEI, TAIWAN, Mar.31, 2023- We’ve mentioned how Polygenic risk score can empower people to change lifestyles in a more healthy way to prevent disease. However, it is not a proper method to make all medical decisions.


Members of the American College of Medical Genetics and Genomics professional practice and guidelines committee advised against the use of polygenic risk score testing at present to select embryos for implantation in a new policy statement about clinical applications of PRS testing this month.


The statement, published in Genetics in Medicine, stated that the technology is “not appropriate for clinical use” and should not be offered as direct-to-consumer testing. The statement comes as several US companies, including Genomic Prediction and MyOme, are offering or studying the use of preimplantation genetic testing for polygenic disorders. The statement highlighted the limitations of PRS and a lack of evidence that they improve clinical outcomes.


Additionally, most PRS models have been based on genome-wide association studies in European populations and may not apply to other populations. There is also evidence that PRS results may differ by sex. The authors said there is a need for studies to demonstrate improved clinical outcomes from using PRS and that cost-effectiveness studies are lacking. The statement also highlighted that PRS does not provide a diagnosis but merely a relative genetic risk of developing a disease that does not account for other risk factors.



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