Global Genomic Collaboration Provides Diagnoses and Informs Care for Infants with Epilepsy

Epilepsy in infants ranges in severity and can leave caregivers with questions about their child’s health. While genetic testing to help determine the cause of epilepsy is possible, comprehensive testing does not always happen routinely and it can take a long time, leaving families waiting for answers. Published on August 16, 2023 in The Lancet Neurology, this international study sequenced the genomes of 100 infants with unexplained seizures, along with their parents, from four countries (England, USA, Canada, and Australia) to better understand the potential strengths of early, broad genome sequencing (a process which looks for changes across the entire genome) for infantile epilepsy. The open-access article is titled “Evaluation of the Feasibility, Diagnostic Yield, and Clinical Utility of Rapid Genome Sequencing in Infantile Epilepsy (Gene-STEPS): An International, Multicentre, Pilot Cohort Study.” The researchers used rapid genome sequencing (rGS) to investigate the impact of an expedited genetic diagnosis on care for the first time. Across all children enrolled in the study, 43 per cent received a diagnosis within weeks, and that diagnosis impacted prognosis in nearly 90 per cent of those cases, guiding treatment options for over half.