Study examines early rGS for infantile epilepsy diagnosis

An international study has examined the effectiveness of early rapid genome sequencing (rGS), used traditionally for detecting rare genetic diseases, to diagnose babies with epilepsy. The diagnosis using this method has led to informing improved treatment plan changes, according to researchers.

Published in The Lancet Neurology, the study recruited 100 babies with new-onset epilepsy from Australia, Canada, the UK and the US, and found that rapid genome sequencing had a high diagnostic rate of 43% for infantile epilepsy.

Of those babies diagnosed, the study found 56% had their treatment plan altered as result.

Part of the International Precision Child Health Partnership (IPCHiP), an international consortium, which aims to use genomic data to accelerate discovery and therapeutic development, the Gene-STEPS study was co-led by the Murdoch Children’s Research Institute, The Hospital for Sick Children (SickKids), Boston Children’s Hospital, UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital.

Being a neurological disorder, infantile epilepsy is generally a genetic condition that causes recurrent and unprovoked seizures, leading to developmental and cognitive delays. Rapid genome sequencing applied in the study examined changes in a person’s DNA that may explain a medical condition, such as infantile epilepsy, utilising technology to analyse the entire genome (the complete set of an organism’s genetic material).

Murdoch Children’s Research Institute’s Dr Katherine Howell said early recognition and prompt treatment of infantile epilepsy were crucial to beneficial health outcomes and preventing further neurological deterioration.

“We expect rapid genome sequencing to improve the outcomes of babies with epilepsy by providing individualised care, tailored to the underlying cause, at the earliest possible stage,” Howell said.

Dr Annapurna Poduri from Boston Children’s Hospital explained that treating seizures as a symptom in order to provide medication hadn’t targeted the underlying causes of epilepsy previously, noting that “... if providing an underlying diagnosis to families and providers quickly was made a priority, we could better inform future treatment, evaluation, prognosis and counselling for families of kids with infantile epilepsy”.

For those whose results did not provide a genetic explanation for their seizures, SickKids’ Dr Vann Chau said a negative test was still key information for families as they would be able to use those results to also tailor their medical treatment, albeit in an alternative way.

“Regardless of whether sequencing shows there is a genetic cause, the information gathered from genome sequencing helps clinicians develop a care plan that is specific to the medical needs of each patient,” he said.

The study hopes to facilitate support for greater access to the technology in clinical care.

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