Skip to main content

New study highlights impact of genetic testing in children with epilepsy

Last Updated:
Microscopic strand of DNA

A new study recently presented at the American Epilepsy Society Annual Meeting has quantified the impact of a genetic diagnosis on the medical management of unexplained childhood epilepsy.

Genetic testing is a medical test on a person’s genes which aims to determine why a person may have developed a certain condition – such as epilepsy. A genetic diagnosis helps clinicians better understand why a condition is presenting in a person and can provide them with a clearer direction on how to approach that person’s treatment and medical management.

Researchers from Boston Children’s Hospital set about investigating how a genetic diagnosis impacted on the treatment and medical management of children with epilepsy tested between 2012 and 2019.

The study identified 152 children with epilepsy and researchers have reported that having a genetic diagnosis positively impacted in 72% of the children identified.  It was found that:

-             48% received better care coordination – meaning that were referred to specialists as a result of their genetic test

-              45% received improved treatment (see below for specific findings within this figure)

-              28% had an improved outlook for living with the condition

-              1% received a clear diagnosis as a result of their genetic test

Within the 45% of children who received improved treatment, it was found that:

  • 36% showed an impact on anti-seizure medication choice – i.e, that the genetic diagnosis allowed clinicians to identify an anti-epileptic drug more clearly to treat their patient
  • 10% were eligible for gene-specific trials or new investigational drug use – that they would not have been eligible for without a genetic diagnosis
  • 7% were started on gene-specific vitamin or metabolic treatments including special diets (such as the ketogenic diet), nutritional supplements, and enzymes to remove harmful substances from the body.
  • 3% were treated with a medication off-label - meaning a drug had been identified for their treatment which had not yet received approval for their type of epilepsy.

The findings have led the authours of the study to conclude that genetic testing should be an integral part of the diagnostic process for children with unexplained epilepsy, with lead author Dr. Isabel Haviland commenting, “A genetic diagnosis impacted medical management for nearly three out of four children in our study. About two-thirds of pediatric epilepsy is unexplained, and genetic testing should be offered in these cases because of the significant potential impact on management, including on clinical treatment and eligibility for clinical studies.”

If you’d like to read more about this study, you can do so by visiting the American Epilepsy Society website.