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World J Gastroenterol. Apr 7, 2026; 32(13): 115810
Published online Apr 7, 2026. doi: 10.3748/wjg.v32.i13.115810
Published online Apr 7, 2026. doi: 10.3748/wjg.v32.i13.115810
Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort
Ali Alsarhan, Christos Tzivinikos, Department of Pediatric Gastroenterology, Al-Jalila Children's Hospital, Dubai 00000, United Arab Emirates
Rasha Alloush, Department of Pediatrics, Dubai Health, Dubai 00000, United Arab Emirates
Ruchi Jain, Ahmad Abou Tayoun, Genomic Medicine Center, Dubai Health, Al Jalila Children Hospital, Dubai 00000, United Arab Emirates
Co-corresponding authors: Ahmad Abou Tayoun and Christos Tzivinikos.
Author contributions: Abou Tayoun A and Tzivinikos C contribute equally to this study as co-corresponding authors; Alsarhan A conceptualized and structured the study, performed the statistical analysis, drafted the manuscript, and reviewed and approved the final version; Alloush R collected data, contributed to manuscript writing, and reviewed and approved the final version; Jain R collected data, prepared the figures, and reviewed and approved the manuscript; Tzivinikos C contributed to study design, supervised the project, and critically reviewed the manuscript; Abou Tayoun A conceptualized the study, supervised the overall work, critically revised the manuscript, and approved the final version.
Institutional review board statement: The study was reviewed and approved by the Dubai Scientific Research Ethics Committee, Dubai Health Authority (Approval No. DSREC-08/2025_03).
Informed consent statement: The requirement for informed consent was waived by the Institutional Review Board due to the retrospective nature of the study.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest related to this work.
Data sharing statement: De-identified data supporting the findings of this study are available from the corresponding author upon reasonable request.
Corresponding author: Ahmad Abou Tayoun, PhD, Genomic Medicine Center, Dubai Health, Al Jalila Children Hospital, Al Jaddaf Street, Dubai 00000, United Arab Emirates.
Received: October 27, 2025
Revised: November 29, 2025
Accepted: February 4, 2026
Published online: April 7, 2026
Processing time: 152 Days and 14.9 Hours
Revised: November 29, 2025
Accepted: February 4, 2026
Published online: April 7, 2026
Processing time: 152 Days and 14.9 Hours
Core Tip
Core Tip: Here we characterize the diagnostic and clinical utility of genomic investigations for a wide range of pediatric gastrointestinal disorders in a pediatric cohort from the Middle East. We show that the cumulative diagnostic yield was 55%, including 6% having multiple molecular diagnoses, mostly attributed to autosomal recessive disorders (66%). Yield was highest for patients with congenital diarrhea (73.3%) and cholestasis (62.5%). Genomic findings guided management plans in 97% of diagnosed patients. We propose a novel gene-disease association most likely due to biallelic loss-of-function variants in the NR1I3 gene.