Genomic Screening Approaches For Early Detection Of Inherited Pediatric Metabolic Disorders

Abstract

Background: Inherited pediatric metabolic disorders are a group of genetic diseases that disrupt normal metabolic functions and could lead to serious developmental, neurological, and physiological problems if not diagnosed. Timely detection is key in timely interventions and improved long term health outcomes. The ability to identify disease causing genetic variants early on has improved with advances in genomic screening technologies.  Objective: To assess the effectiveness of genomic screening strategies for the early detection and diagnosis of inherited metabolic disorders in children.  Methodology: A thorough review of genomic screening methods, such as next-generation sequencing (NGS), whole-exome sequencing (WES), targeted gene panels, and newborn genetic screening programs, was carried out. To evaluate diagnostic performance, detection rate, turnaround time and clinical utility, we used published clinical studies and genomic datasets. Findings: The review showed that genomic screening approaches had the diagnostic detection rates from 85% to 96%. Early genomic testing cut diagnostic delays by approximately 40% and improved treatment initiation rates by nearly 35%. Newborn screening programs showed high sensitivity (>94%) for detection of metabolic disorders prior to symptom onset. Conclusion: Genomic screening is a giant leap forward in the early detection and diagnosis of inherited Paediatric metabolic disorders. High-throughput genomic technologies could improve clinical outcomes, support personalized treatment strategies, and decrease disease complications when integrated into routine pediatric health care.