Patterns, Indications, and Outcomes of Genetic Testing Among Pediatric Patients

Abstract

Background: Genetic disorders contribute substantially to childhood morbidity, yet access to genetic testing in Nepal is limited by cost, availability, and a shortage of expertise. Evidence on testing practices and outcomes is scarce. This study aimed to describe the patterns, clinical indications, and outcomes of genetic testing among pediatric patients in a tertiary care hospital in Nepal.
Methods: This retrospective study was conducted at the Department of Pediatrics, Tribhuvan University Teaching Hospital from February 2024 to July 2025. We included all patients from birth to 18 years who underwent genetic testing for diagnostic purpose along with parents or siblings tested for segregation analysis. Data including the genetic reports were extracted from the investigator records and analyzed using SPSS.
Results: A total of 194 cases were included. Median age was three years (IQR 6.25) with males comprising 60.3%. Consanguinity was reported in 2.1%. Whole exome sequencing (WES) was the most commonly performed test (43.8%), followed by single-gene testing (20.1%) and karyotyping (15.9%). Neurodevelopmental disorders (18.0%) and congenital anomalies (15.0%) were the most frequent clinical indications. Overall diagnostic yield was 53.8%. Pathogenic or likely pathogenic variants were identified in 53.47% of WES/CES cases, while 31.7% yielded variants of uncertain significance. Down syndrome (7.7%), Duchenne muscular dystrophy (5.1%), and Lysosomal storage disorders (3.6%) were the most common diagnoses.
Conclusions: WES emerged as the most effective diagnostic tool in this cohort. Over half of cases achieved a genetic diagnosis, with neurodevelopmental disorders and congenital anomalies as the leading indications. A range of genetic disorders was identified, with Down syndrome and Duchenne muscular dystrophy being more prevalent.
Keywords: Diagnostic yield; genetic testing, Nepal; pediatrics; whole exome sequencing.