E-ISSN 1658-8088 | ISSN 1658-807X
 

Original Article 


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

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.

Key words: PGT-M, VOUS, a variant of uncertain significance, preimplantation genetic testing, variant, Saudi Arabia, geneticists.


 
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How to Cite this Article
Pubmed Style

Alduaiji R, Alqahtani L, Alqadiri R, Alotaibi L, abolfotouh M, Alfadhel M. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBCGenetics. 2023; 6(1): 36-40. doi:10.24911/JBCGenetics/183-1676870604


Web Style

Alduaiji R, Alqahtani L, Alqadiri R, Alotaibi L, abolfotouh M, Alfadhel M. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. https://www.jbcgenetics.com//?mno=144284 [Access: August 15, 2023]. doi:10.24911/JBCGenetics/183-1676870604


AMA (American Medical Association) Style

Alduaiji R, Alqahtani L, Alqadiri R, Alotaibi L, abolfotouh M, Alfadhel M. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBCGenetics. 2023; 6(1): 36-40. doi:10.24911/JBCGenetics/183-1676870604



Vancouver/ICMJE Style

Alduaiji R, Alqahtani L, Alqadiri R, Alotaibi L, abolfotouh M, Alfadhel M. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBCGenetics. (2023), [cited August 15, 2023]; 6(1): 36-40. doi:10.24911/JBCGenetics/183-1676870604



Harvard Style

Alduaiji, R., Alqahtani, . L., Alqadiri, . R., Alotaibi, . L., abolfotouh, . M. & Alfadhel, . M. (2023) Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. JBCGenetics, 6 (1), 36-40. doi:10.24911/JBCGenetics/183-1676870604



Turabian Style

Alduaiji, Reema, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, and Majid Alfadhel. 2023. Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. Journal of Biochemical and Clinical Genetics, 6 (1), 36-40. doi:10.24911/JBCGenetics/183-1676870604



Chicago Style

Alduaiji, Reema, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, and Majid Alfadhel. "Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance." Journal of Biochemical and Clinical Genetics 6 (2023), 36-40. doi:10.24911/JBCGenetics/183-1676870604



MLA (The Modern Language Association) Style

Alduaiji, Reema, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, and Majid Alfadhel. "Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance." Journal of Biochemical and Clinical Genetics 6.1 (2023), 36-40. Print. doi:10.24911/JBCGenetics/183-1676870604



APA (American Psychological Association) Style

Alduaiji, R., Alqahtani, . L., Alqadiri, . R., Alotaibi, . L., abolfotouh, . M. & Alfadhel, . M. (2023) Opinion of geneticist regarding performing preimplantation genetic testing for monogenic disorder for variants of unknown significance. Journal of Biochemical and Clinical Genetics, 6 (1), 36-40. doi:10.24911/JBCGenetics/183-1676870604





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