Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations

Machine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hy...

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Bibliographic Details
Main Authors: Laurent C. A. M. Tellier, Jennifer Eccles, Nathan R. Treff, Louis Lello, Simon Fishel, Stephen Hsu
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/8/1105
Description
Summary:Machine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hypertension, breast cancer, and many more. PRSs have been validated in large population groups across multiple continents and are under evaluation for widespread clinical use in adult health. It has been shown that PRSs can be used to identify which of two individuals is at a lower disease risk, even when these two individuals are siblings from a shared family environment. The relative risk reduction (RRR) from choosing an embryo with a lower PRS (with respect to one chosen at random) can be quantified by using these sibling results. New technology for precise embryo genotyping allows more sophisticated preimplantation ranking with better results than the current method of selection that is based on morphology. We review the advances described above and discuss related ethical considerations.
ISSN:2073-4425