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  • Global Genomic Study Aids Diagnosis and Care for Infants with Epilepsy

    Epilepsy in infants varies greatly in its severity, often leaving caregivers with unresolved questions regarding their child’s health. Although genetic testing can assist in identifying the cause of epilepsy, it is not always carried out comprehensively and promptly, resulting in families enduring long waiting periods for answers.

    A new international study, as reported in The Lancet Neurology, conducted genome sequencing of 100 infants experiencing unexplained seizures, as well as their parents. These participants were from four countries: England, the USA, Canada, and Australia. The study aimed to evaluate the potential advantages of early, extensive genome sequencing in the context of infantile epilepsy.

    For this research, scientists employed rapid genome sequencing (rGS) to assess, for the first time, how a swift genetic diagnosis can affect patient care. The findings indicated that 43% of the children involved in the study received a diagnosis within a matter of weeks. Impressively, these diagnoses played a crucial role in nearly 90% of those cases, informing and steering the treatment strategies for over half of them.

    The study, named Gene-STEPS (Shortening Time to Epilepsy Services), represents the inaugural collaboration initiated through the International Precision Child Health Partnership (IPCHiP). This consortium includes 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. IPCHiP aims to utilize the collective expertise and genomic resources of each institution to expedite the process of discovery and therapy development for children.

    There are currently over 800 identified genetic origins of infantile epilepsy, and many present with similar symptoms during infancy. Unlike the more specific genetic tests usually employed to confirm an anticipated diagnosis, rGS searches for any variations in an individual's DNA that might elucidate a medical condition, analyzing the entire genome.

    In this particular study, the rGS, referred to as ‘trio’ sequencing, was conducted on both biological parents and the infant. This approach was taken to swiftly determine whether the gene alterations in the children were inherited or appeared anew in the child (de novo). These findings hold significant value for families, offering clarity on how the results could potentially affect their lives and future family plans.

    Furthermore, for those participants for whom the initial analysis failed to offer a genetic explanation for the seizures, the research team emphasized the value of a “negative” result. Such a result equips families and healthcare professionals with a meaningful direction for the child’s subsequent care.

    The international team of researchers remains engaged in following up with clinicians and study participants. The goal is to understand the extent to which rGS has influenced the development of the child. Nonetheless, the scope of the work extends beyond this; a more in-depth comprehension of the genetic variations implicated in epilepsy might pave the way to identifying candidates for clinical trials and facilitate the crafting of personalized interventions.

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