A new era of integration of genetics and neurology

Pediatric neurology has undergone a profound transformation over the past two decades. Alongside traditional diagnostic tools such as neuroimaging, electroencephalography, and cerebrospinal fluid analysis, next-generation sequencing has emerged as a central component of clinical evaluation. Simultaneously, the field has shifted from predominantly symptomatic management toward disease-specific and precision-based therapies. This review synthesizes recent advances in neurogenomics and discusses their implications for the future of pediatric neurology and pediatric medicine more broadly.

Broad genetic testing, including exome and genome sequencing, is increasingly considered standard of care for many neurodevelopmental and neurological phenotypes, including developmental delay, autism, epilepsy, neuromuscular disorders, and stroke. For selected exome-negative cases, emerging approaches such as long-read sequencing, transcriptomics, metabolomics, and functional studies may further improve diagnostic yield. Therapeutic advances now include enzyme replacement therapies, antisense oligonucleotides, and gene therapies, with several interventions already FDA-approved and many others in clinical development. As these therapies expand, posttherapy surveillance and development of institutional expertise become increasingly important.

Genomics is rapidly becoming an essential component of day-to-day pediatric neurology practice rather than a niche research discipline. Preparing the workforce through initiatives such as the Child Neurology Society Genetics Curriculum and partnering with patient advocacy organizations will be critical to ensuring equitable implementation of genomic medicine and precision therapeutics.