Currently, there are more than 800 known different genetic causes of infantile epilepsy, and many have similar symptoms during early childhood. Unlike more targeted genetic testing that is often used to confirm a suspected diagnosis, genome sequencing looks for any changes in a person’s DNA that may explain a medical condition, analysing the entire genome.
Published in The Lancet Neurology, this new international study sequenced the genomes of 100 babies under the age of one with unexplained seizures from four countries (England, USA, Canada and Australia) leveraging expertise and genomic infrastructure from each.
The research utilised rapid genome sequencing (rGS - which looks for changes across the entire genome) to investigate the impact of an immediate 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.
This powerful in-house sequencing technique allowed researchers to not only provide a rapid diagnosis for many families, but also had an immediate impact on clinical care – allowing for faster access to correct treatments, fully-informed decision making and often further clinical investigations.
In this study, rGS was delivered as ‘trio’ sequencing, testing both parents and the child, to more quickly understand whether gene changes in the children were inherited or new to the child. These insights are vital for families to understand how the results impact their lives and their plans for any future children.
Called Gene-STEPS, Shortening Time of Evaluation in Paediatric epilepsy Services, 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, The Hospital for Sick Children (SickKids) and UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital) that uses genomic data to accelerate discovery and development of therapies for children.
The UK arm of the study was part-funded by Great Ormond Street Hospital Children’s Charity (GOSH Charity) and the National Institute for Health and Care Research (NIHR) GOSH Biomedical Research Centre with support from Young Epilepsy.
