Original Article
Volume: 6 | Issue: 1 | Published: Mar 28, 2023 | Pages: 36 - 40 | DOI: 10.24911/JBCGenetics/183-1676870604
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
Article Info
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 11481, Saudi Arabia,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,Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.
Publication History
Received: February 20, 2023
Revised: March 05, 2023
Accepted: March 07, 2023
Published: March 28, 2023
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
