Alsarhan A, Alloush R, Jain R, Abou Tayoun A, Tzivinikos C. Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort. World J Gastroenterol 2026; 32(13): 115810 [DOI: 10.3748/wjg.v32.i13.115810]
Corresponding Author of This Article
Ahmad Abou Tayoun, PhD, Genomic Medicine Center, Dubai Health, Al Jalila Children Hospital, Al Jaddaf Street, Dubai 00000, United Arab Emirates. ahmadat@gmail.com
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Genetics & Heredity
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Retrospective Study
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Apr 7, 2026 (publication date) through Mar 27, 2026
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Publication Name
World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Alsarhan A, Alloush R, Jain R, Abou Tayoun A, Tzivinikos C. Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort. World J Gastroenterol 2026; 32(13): 115810 [DOI: 10.3748/wjg.v32.i13.115810]
World J Gastroenterol. Apr 7, 2026; 32(13): 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, Rasha Alloush, Ruchi Jain, Ahmad Abou Tayoun, Christos Tzivinikos
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. ahmadat@gmail.com
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
Abstract
BACKGROUND
The landscape and clinical utility of comprehensive genomic investigations for a wide range of pediatric gastrointestinal (GI) disorders have not been fully characterized in the Middle East.
AIM
To characterize the diagnostic yield and clinical utility of genomic investigations in a Middle Eastern pediatric cohort of GI disorders, and to dissect the pathogenic landscape of those disorders in this region.
METHODS
Sixty-nine pediatric patients of diverse Arab and Asian origins, were clinically and genetically assessed for a spectrum of GI diseases, including liver disease, inflammatory bowel disease, chronic diarrhea, and pancreatitis. Clinical genomic investigations included mainly (87%) next generation sequencing-based gene panels and whole exome or genome sequencing. Clinical information, including demographics, symptoms, management and clinical outcomes, was extracted from medical records.
RESULTS
The overall positive yield was 55%, whereas multiple molecular diagnoses were made in 3 patients (4%) including 2 with triple genetic findings, highlighting the utility of genetic investigations in delineating the phenotypic complexity in this cohort. A secondary medically actionable finding (MYBPC3-associated cardiomyopathy) was identified in one out of 12 patients (8%) who received exome or genome sequencing. Among all disease groups, the diagnostic yield was highest in patients with chronic diarrhea (73.3%) followed by those with cholestasis (62.5%). Copy number variants contributed substantially (18%) to the pathogenic variation spectrum. Consistent with consanguinity rates in this region, autosomal recessive conditions accounted for 66% of all diagnosed patients. Importantly, genetic findings guided clinical management plans and interventions in most cases (97%). Finally, we highlight a putative candidate gene, NR1I3, possibly associated with cholestasis identified in an undiagnosed Yemeni family with episodic transient disease.
CONCLUSION
Our study provides new insights into the pathogenic variation landscape in pediatric GI disorders in the Middle East and emphasizes the clinical utility of genomic investigations in managing those patients.
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.
