Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.
Fiche publication
Date publication
mai 2024
Journal
Human reproduction update
Auteurs
Membres identifiés du Cancéropôle Est :
Pr VIVILLE Stéphane
Tous les auteurs :
Capalbo A, de Wert G, Mertes H, Klausner L, Coonen E, Spinella F, Van de Velde H, Viville S, Sermon K, Vermeulen N, Lencz T, Carmi S
Lien Pubmed
Résumé
The genetic composition of embryos generated by in vitro fertilization (IVF) can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. Recent advances have made genome-wide genotyping of IVF embryos feasible and affordable, raising the possibility of screening embryos for their risk of polygenic diseases such as breast cancer, hypertension, diabetes, or schizophrenia. Despite a heated debate around this new technology, called polygenic embryo screening (PES; also PGT-P), it is already available to IVF patients in some countries. Several articles have studied epidemiological, clinical, and ethical perspectives on PES; however, a comprehensive, principled review of this emerging field is missing.
Mots clés
PGT-P, clinical considerations, disease risk reduction, ethical considerations, polygenic embryo screening, polygenic risk scores, preimplantation genetic testing, statistical genetics
Référence
Hum Reprod Update. 2024 05 28;: