Litcius/Paper detail

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Francesca Forzano, Olga Antonova, Angus Clarke, Guido de Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdís Stefánsdóttir, Carla van El, Maurizio Genuardi, Borut Peterlin, Carla Oliveíra, Karin Writzl, Gunnar Houge, Christophe Cordier, Heidi Howard, Milan Maçek, Béla Melegh, Álvaro Mendes, Dragica Radojković, Emmanuelle Rial‐Sebbag, Fiona Ulph, Yalda Jamshidi

2021European Journal of Human Genetics90 citationsDOIOpen Access PDF

Abstract

Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect is severely limited, and to date, no clinical research has been performed to assess its diagnostic effectiveness in embryos. Patients need to be properly informed on the limitations of this use of PRSs, and a societal debate, focused on what would be considered acceptable with regard to the selection of individual traits, should take place before any further implementation of the technique in this population.

Topics & Concepts

Polygenic risk scoreGenetic testingSelection (genetic algorithm)PopulationDiseaseRisk assessmentMedicinePsychologyBiologyGeneticsInternal medicineGenotypeComputer scienceEnvironmental healthGeneComputer securityArtificial intelligenceSingle-nucleotide polymorphismPrenatal Screening and DiagnosticsBRCA gene mutations in cancerGenetic Syndromes and Imprinting