A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P

Genet Med. 2022 Jun;24(6):1165-1175. doi: 10.1016/j.gim.2022.03.001. Epub 2022 Mar 24.

Abstract

Purpose: Recently, preimplantation genetic testing (PGT) for polygenic conditions (PGT-P) has been introduced commercially. In view of the lack of specific guidance on this development, we analyzed normative documents on PGT for monogenic conditions (PGT-M) to understand what we can learn from these documents for recommendations for PGT-P.

Methods: We conducted a systematic review of normative guidelines and recommendations on PGT-M. The aim was to understand what the current consensus and disagreements are on ethical acceptability of PGT-M and how this compares with PGT-P.

Results: We analyzed 38 documents by advisory committees at the national, European, and global level. In total, 2 themes were identified, which included the following: (1) what PGT is considered appropriate for and (2) who can make decisions regarding the use of PGT. Many aspects of PGT-M documents apply to PGT-P as well. Additional factors such as the fact that PGT-P screens for risk indications of multiple polygenic conditions increase ethical difficulties regarding severity, risk, autonomy, and informed decision-making.

Conclusion: On the basis of PGT-M normative documents, we conclude that ethical acceptability for PGT-P is limited. Our findings present various factors that have to be considered for the development of guidelines and the appropriateness of PGT.

Keywords: Ethics; Normative documents; PGT-M; PGT-P; Preimplantation genetic testing; Systematic review.

Publication types

  • Review
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneuploidy
  • Female
  • Genetic Testing
  • Humans
  • Morals
  • Multifactorial Inheritance
  • Pregnancy
  • Preimplantation Diagnosis*