A recent international study, published in The Lancet Neurology, used rapid genome sequencing to unravel the genetic causes of unexplained seizures in infants.
The study, named Gene-STEPS (Shortening Time to Epilepsy Services), emerged from a collaboration between institutions in the UK, USA, Canada and Australia.
Epilepsy affects infants with varying degrees of severity.
While genetic testing offers potential insight into the causes of epilepsy, the process is not always comprehensive and can be time-consuming.
The Gene-STEPS study aimed to address these challenges and provide faster, more accurate diagnoses to families.
The researchers employed rapid genome sequencing (rGS) to analyse the genomes of 100 infants and their parents.
This process, which examines changes across the entire genome, allowed the team to identify genetic variations associated with infantile epilepsy.
In the context of over 800 genetic causes of infantile epilepsy, rapid genome sequencing offers a comprehensive approach that examines all possible genetic changes.
This technique, known as ‘trio’ sequencing, involves analysing the genomes of both parents and the infant to determine whether genetic variations are inherited or new.
Within weeks of testing, 43 per cent of the infants received a diagnosis, significantly impacting prognosis in almost 90 per cent of those cases.
Furthermore, the genetic diagnoses influenced treatment decisions for more than half of the cases studied.
The Gene-STEPS study falls under the umbrella of the International Precision Child Health Partnership (IPCHiP).
The global consortium brings together expertise from institutions like Boston Children’s Hospital, Murdoch Children’s Research Institute, The Royal Children’s Hospital, and more, with the shared goal of accelerating research and therapy development for paediatric diseases.
Dr. Amy McTague, one of the study’s lead researchers from the UCL Great Ormond Street Institute of Child Health, said: “This research has provided powerful evidence for the clinical benefits of rapid genomic sequencing in infants with new-onset epilepsy.”
Dr. Annapurna Poduri, Director of the Neurogenetics and Epilepsy Genetics Programs at Boston Children’s Hospital, added: “”The status quo has been to treat seizures like a symptom and try to find medications that alleviate them.
“But medications aren’t getting at the underlying causes of epilepsy.
“We all feel a deep sense of responsibility to bring our genetic discovery successes to our patients.
Even when results did not immediately provide a genetic explanation for seizures, the study underscored the value of ‘negative’ results, providing valuable information for families and clinicians to navigate the child’s care effectively.
While the research team continues to follow up with participants to track their development, the potential for greater understanding of genetic variants related to epilepsy holds promise for identifying eligibility for clinical trials and guiding tailored interventions.
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