Rapid genome sequencing speeds up babies’ epilepsy treatment by years

A cutting-edge genetic test can diagnose the cause of a baby’s epilepsy years before traditional tests, giving kids like Levi the chance to walk and talk.

Levi Trowbridge, 3, went from having five seizures a day to a handful every year thanks to genetic testing that pinpointed his diagnosis. Picture: Jason Edwards

A cutting-edge genetic test can diagnose the cause of a baby’s epilepsy months or even years before traditional tests, a world-first study has found, allowing them to receive targeted treatment.

The right treatment could spare them from suffering hundreds of seizures, and the serious, lifelong cognitive and developmental delays these can cause.

The global study, published in the Lancet Neurology, found RGS identified the genetic cause of a baby’s epilepsy in 43 out of 100 cases and included researchers from Melbourne’s Murdoch Children’s Research Institute and Britain’s NHS.

One in two babies had their treatment plan changed post-diagnosis, prompting calls to expand access to testing outside of clinical trials.

The study identified the genetic cause of a baby’s epilepsy in 43 out of 100 cases. Picture: Jason Edwards

MCRI researcher and Royal Children’s Hospital neurologist Dr Katherine Howell said RGS allowed them to offer children “the best possible care at the earliest possible time”.

“We’re giving a child and their family the best chance of having the best possible outcome,” she said.

She said rapid genome testing can test all of a baby’s 20,000 genes simultaneously for the more than 800 known genetic causes of epilepsy.

“Current genetic testing methods often take months or even years, resulting in missed

opportunities,” she said.

RGS is not widely available due its cost and demands on resources, but for Melbourne 3-year-old Levi Trowbridge, its impact was priceless.

Mum Karsha Trowbridge does not believe her now “thriving” son would be able to walk, talk or even breathe on his own if RGS had not identified a rare genetic condition as the cause of the daily seizures that left him on life support at just a week old.

She said doctors changed his treatment and he went from seizing 80 times in his first three weeks of life to having less than seven seizures in more than three years.

“We are forever grateful for having that early testing available,” she said.

“Levi is really kicking goals now.

“Without that early intervention I don’t know where Levi would be at today.

“Every seizure unfortunately affects them in a different way.”

She said Levi holds his breath when he seizes and worries for other children with his condition who are still seizing frequently while searching for a diagnosis.

“Imagine what life that child could have lived if they had known through this testing,” she said.

Karsha Trowbridge and Steve Trowbridge with Levi, 3 and Beau, 11 months. Picture: Jason Edwards

Dr Howell told the Herald Sun they hope the study’s high diagnosis rate (43 per cent) and treatment changes in response (56 per cent) could see RGS offered to all babies whose epilepsy has an unknown cause.

Even if it does not find the answer it was still helpful, she said, as ruling out some genetic causes can help doctors confirm other diagnoses, including types of epilepsy that can be cured via surgery.

“There are some treatments we can offer children who don’t have a genetic diagnosis made with RGS, that we wouldn’t if they had a genetic cause found,” she said.

She said they think the “cutting-edge technology could help children with conditions other than epilepsy as well”.