Polygenic embryo screening: quo vadis?

J Assist Reprod Genet. 2024 Jul;41(7):1719-1726. doi: 10.1007/s10815-024-03169-8. Epub 2024 Jun 15.

Abstract

Recently, the use of polygenic risk scores in embryo screening (PGT-P) has been introduced on the premise of reducing polygenic disease risk through embryo selection. However, it has been met with extensive critique: considered "technology-driven" rather than "evidence-based", concerns exist about its validity, utility, ethics, and societal effects. Its scientific foundations and criticisms thus need to be carefully considered. However, seeing as PGT-P is already offered in some settings, further questions need to be addressed, in order to give due diligence to various aspects of PGT-P. By examining the complexities of clinical introduction of PGT-P, we discuss whether PGT-P could be responsibly implemented in the first place, what elements need to be addressed if PGT-P is clinically implemented, and subsequently how counselling and decision-making of its users could be envisaged. By dissecting these elements, we provide an overview of important practical questions of PGT-P and emphasize elements of PGT-P that we think have yet to be given sufficient attention. These questions and elements are for example related to the potential target group, scope, and decision-making possibilities of PGT-P. The aspects we raise are crucial to consider by the scientific community and policy makers for the development of guidelines and/or an ethical framework for PGT-P.

Keywords: Ethics; PGT-P; Points to consider; Polygenic embryo screening; Polygenic risk scores; Preimplantation genetic testing.

Publication types

  • Review

MeSH terms

  • Decision Making / ethics
  • Female
  • Genetic Testing* / ethics
  • Genetic Testing* / methods
  • Genetic Testing* / trends
  • Humans
  • Multifactorial Inheritance / genetics
  • Pregnancy
  • Preimplantation Diagnosis* / ethics
  • Preimplantation Diagnosis* / methods

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