Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance
Authors:
Reema Alduaiji
, Laila Alqahtani
, Reema Alqadiri
, Lena Alotaibi
, Mostafa abolfotouh
, Majid Alfadhel
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.Keywords: PGT-M, VOUS, a variant of uncertain significance, preimplantation genetic testing, variant, Saudi Arabia, geneticists
Pubmed Style
Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBC Genetics. 2023; 28 (March 2023): 36-40. doi:10.24911/JBCGenetics/183-1676870604
Publication History
Received: February 20, 2023
Revised: March 05, 2023
Accepted: March 07, 2023
Published: March 28, 2023
Authors
Reema Alduaiji
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia
Laila Alqahtani
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia
Reema Alqadiri
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia
Lena Alotaibi
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia
Mostafa abolfotouh
Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 14611, Saudi Arabia
Majid Alfadhel
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia