The Application of Clinical Genetics (Dec 2020)
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases
Abstract
Eyad Altamimi,1 Mariam Khanfar,2 Omar Rabab’h,3 Zain Dardas,4,5 Luma Srour,4 Lina Mustafa,4 Bilal Azab4,6 1Department of Pediatrics and Neonatology, Jordan University of Science and Technology, Irbid, Jordan; 2Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan; 3Center of Cognition and Neuroethics, University of Michigan-Flint, Flint, MI, USA; 4Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, University of Jordan, Amman, Jordan; 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 6Human and Molecular Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USACorrespondence: Eyad AltamimiDepartment of Pediatrics and Neonatology, Jordan University of Science and Technology, PO Box 3030, Irbid 22110, JordanTel +962 797464254Email [email protected] AzabDepartment of Pathology, Microbiology and Forensic Medicine, School of Medicine, University of Jordan, Amman, JordanEmail [email protected]: 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: pediatric diseases, whole exome sequencing, gastrointestinal diseases, metabolic diseases
