New insights into the pathogenic variation landscape in pediatric gastroenterology diseases

Abstract

Pediatric gastrointestinal (GI) diseases often present with overlapping clinical manifestations. However, invasive diagnostic procedures such as tissue biopsies are substantially more challenging to conduct in children than in adults, which may hinder timely diagnosis and treatment. This editorial addresses the study of Alsarhan et al recently published a study in World Journal of Gastroenterology, who retrospectively examined 69 Middle Eastern pediatric patients with GI diseases. The study combined whole exome sequencing and chromosomal microarray analysis of data from the Greater Middle East Variome database, which revealed that 64.4% of patients with GI diseases carried autosomal recessive genetic variants, with a remarkable 55% diagnostic yield, and informed therapeutic adjustments for 97% of the pediatric patients who tested positive for genetic diseases. Nevertheless, the study also has several limitations, specifically, a small sample size, specimen type ambiguity, inconsistent evidence of candidate genes for therapy, and lack of reporting on differences in pathogenic genetic variation sites between populations. Overall, the study of Alsarhan et al demonstrates that in populations with a high prevalence of hereditary diseases, genetic testing can facilitate clinical diagnosis and the development of precision treatment plans.

Keywords: Limitations; Insights; NR1I3; Pediatric gastrointestinal disease; Strengths of genetic testing

Core Tip: Alsarhan et al recently published a study concerning clinical utility of genomic investigations in a pediatric gastroenterology disease cohort in the World Journal of Gastroenterology. In order to know their contribution, in the present editorial, we reviewed their work and compare it with similar full-length English-language publications in PubMed.