JBCGenetics |

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

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

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

Web 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. https://www.jbcgenetics.com/articles/2081 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1676870604

AMA (American Medical Association) Style

Vancouver/ICMJE 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), [cited April 27, 2025]; 28 (March 2023): 36-40. doi:10.24911/JBCGenetics/183-1676870604

Harvard Style

Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel (2023) Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBC Genetics, 28 (March 2023): 36-40. doi:10.24911/JBCGenetics/183-1676870604

Chicago 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." 28 (2023), 36-40. doi:10.24911/JBCGenetics/183-1676870604

MLA (The Modern Language Association) 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." 28.March 2023 (2023), 36-40. Print. doi:10.24911/JBCGenetics/183-1676870604

APA (American Psychological Association) Style

Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel (2023) Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. , 28 (March 2023), 36-40. doi:10.24911/JBCGenetics/183-1676870604