Rapid genome sequencing improves lives and treatment for children with epilepsy

Baby with a doctor - AnnaStills  on iStock Researchers at UCL and Great Ormond Street Hospital have collaborated with institutes across the world to use rapid genome sequencing to provide a diagnosis for children with unexplained epilepsy and significantly benefit their care. Epilepsy in children ranges in severity and can leave families and carers with many questions about their child's future health. While genetic testing to find the cause of epilepsy is possible it can take a long time - leaving families waiting for answers. The international study, published in The Lancet Neurology , sequenced the genomes of 100 babies under the age of one with unexplained seizure from four countries (England, USA, Canada and Australia) leveraging expertise and genomic infrastructure from each. The research used rapid genome sequencing (rGS), which looks for changes across the entire genome, to investigate the impact of immediate genetic diagnosis on care for the first time. Across all children enrolled in the study, 43 per cent received a diagnosis, within weeks. This diagnosis then went on to impact prognosis in nearly 90 per cent of those cases and it guided treatment options in over half of patients.