Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases

Eyad Altamimi; Mariam Khanfar; Omar Rabab'h; Zain Dardas; Luma Srour; Lina Mustafa; Bilal Azab

doi:10.2147/TACG.S275992

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases

Appl Clin Genet. 2020 Dec 16:13:221-231. doi: 10.2147/TACG.S275992. eCollection 2020.

Authors

Eyad Altamimi¹, Mariam Khanfar², Omar Rabab'h³, Zain Dardas^{4

5}, Luma Srour⁴, Lina Mustafa⁴, Bilal Azab^{4

6}

Affiliations

¹ Department of Pediatrics and Neonatology, Jordan University of Science and Technology, Irbid, Jordan.
² Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
³ Center of Cognition and Neuroethics, University of Michigan-Flint, Flint, MI, USA.
⁴ Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, University of Jordan, Amman, Jordan.
⁵ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁶ Human and Molecular Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA.

Abstract

Purpose: Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis.

Patients and methods: Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation.

Results: We had a 100% success rate identifying each case presented in this study.

Conclusion: This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.

Keywords: gastrointestinal diseases; metabolic diseases; pediatric diseases; whole exome sequencing.

Grants and funding

This work was supported by a grant from the Deanship of Scientific Research, Jordan University of Science and Technology (Number 20180083).