Whole Exome Sequencing Effective for Epilepsy Diagnosis in Children

Genetic sequencing
Genetic sequencing
WES identified a definite/likely diagnosis in 32% of patients and a possible diagnosis in 22% of patients, for an overall yield of 54%.

PHILADELPHIA — Research suggests that whole exome sequencing can identify the genetic cause of seizures in children under the age of 5 with onset of epilepsy, with more than 15% of the diagnoses having immediate treatment implications.

The findings were presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia.

Michelle K. Demos, MD, study investigator from the University of British Columbia in Vancouver, Canada, told Neurology Advisor that the potential of whole exome sequencing (WES) to influence treatment and outcome supports its early use in the diagnostic process; however, access to WES or gene panels remains variable.

“Despite reductions in cost and turn-around times, in British Columbia, Canada, [WES] testing requires approval by our provincial funding agency, which often delays testing even when it’s approved,” Dr. Demos said. “Given this, in this ongoing study we aim to demonstrate that compared to our current clinical approach, performing targeted analysis of WES in early onset epilepsy will increase our diagnostic yield of single gene disorders (>20%), shorten time to diagnose and implement specific treatments, and reduce additional investigations and cost.”

For the study, Dr. Demos and colleagues enrolled 50 patients with a history of early onset epilepsy (≤5 years) of unknown cause who attended the BC Children’s Hospital. All patients were classified as either retrospective (epilepsy >6 months) or prospective (epilepsy <6 months), and received WES between December 2014 and June 2015.