Global genomic collaboration provides diagnoses and informs care for infants with epilepsy

Published in The Lancet Neurology(updated Oct 17, 2023), this international study, supported in part by the McLaughlin Centre, 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 for infantile epilepsy.

The study is the first collaboration launched through the International Precision Child Health Partnership (IPCHiP), an international consortium (Boston Children’s Hospital, Murdoch Children’s Research Institute with The Royal Children’s Hospital in Melbourne Australia, The Hospital for Sick Children (SickKids) and UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital) that leverages each institution’s expertise and genomic infrastructure to accelerate discovery and the development of therapies for children. 

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. 

“Thanks to our international, multi-centre partnership, we were able to clearly showcase that early rapid genome sequencing can inform the course of care for children with infantile epilepsy,” says Dr. Gregory Costain, Assistant Professor of Molecular Genetics and a Staff Physician and Scientist-Track Investigator in SickKids. “Our hope is that these findings will help us advocate for greater access to genome sequencing in clinical care and lay the groundwork for precision medicine interventions that could one day offer individualized treatment options for every patient and family.” Dr. Costain is SickKids co-lead of the study and a McLaughlin Centre Accelerator Grantee. READ MORE