Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance

Abstract

Background: Preimplantation genetic testing (PGT) is used to identify a pathogenic variant in embryos created through in vitro fertilization. A "variant of uncertain significance" (VOUS) is a genetic variant discovered through genetic testing but with unknown clinical significance. The primary goal is to gauge geneticists' perspectives on performing PGT-M for VOUS in Saudi Arabia, which results in the development of recommendations from higher authorities regarding the criteria of PGT-M in clinical practice. Methods: After reviewing the literature, a cross-sectional study was conducted employing questionnaire developed using survey monkey. The reliability of the questionnaire was assessed in terms of internal consistency and Cronbach's alpha-assessed test-retest. Results: In particular, a total of 96 Saudis and non-Saudis, male and female geneticists, agreed to participate in the study. Out of the 96 geneticists, 56 (59.6%) were female. Most participants were of Saudi origin, with a percentage of (76.6%). The most important finding of this study is that 64% of geneticists opposed performing PGT-M for VOUS. The outcome that 94.5% of geneticists concurred that PGT-M is poorly understood was another noteworthy finding. Conclusion: Future research with a larger sample size is required for performing PGT-M for VOUS, which will help in developing guidelines for PGT-M in Saudi Arabia. [JBCGenetics 2023; 6(1.000): 36-40]

Keywords

• pgt-m
• vous
• a variant of uncertain significance
• preimplantation genetic testing
• variant
• saudi arabia
• geneticists