ESPEYB19 14. Science and Medicine Genetics (2 abstracts)
14.15. Whole-genome risk prediction of common diseases in human preimplantation embryos
Akash Kumar , Kate Im , Milena Banjevic , Pauline C Ng , Tate Tunstall , Geronimo Garcia , Luisa Galhardo , Jiayi Sun , Oren N Schaedel , Brynn Levy , Donna Hongo , Dusan Kijacic , Michelle Kiehl , Nam D Tran , Peter C Klatsky & Matthew Rabinowitz
Nat Med. 2022 Mar;28(3):513–516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.
Brief Summary: Currently, preimplantation genetic testing (PGT) is used to avoid specific rare Mendelian disorders before in-vitro fertilization (IVF). However, evidence is limited on the potential use of a polygenic risk score (PRS) that combines thousands of genetic variants as a predictor for common conditions, such as heart disease.
In this preclinical study, the authors sequenced the genomes of 10 couples and genotyped their 110 embryos in order to predict the inherited genome sequence of an embryo. They computed separate polygenic risk predictors for 12 common health conditions (e.g. autoimmune diseases) and compared the constructed genome and PRS to results obtained from a tissue sample of the corresponding newborn.
This paper demonstrates the accuracy of this whole-genome reconstruction (WGR) strategy, with over 95% for genotype prediction, which enables a confident polygenic risk scoring for the diseases evaluated. Furthermore, they showed the value of combining predictive information from common genetic variants (PRS) and rare variants, such as pathogenic variants in BRCA1. Limitations are still present – current available data means this approach is mostly relevant for European ancestry individuals, and ethical issues will need to be addressed. However, the approach seems promising for couples with high susceptibility to common genetic diseases who are undergoing IVF.
Volume 19
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more