Whole Exome Sequencing Effective for Epilepsy Diagnosis in Children

Overall, researchers made definitive diagnoses in 13 (26%) patients, of whom 5 were in the prospective group and 8 were in the retrospective group. According to Dr. Demos, WES identified a definite/likely diagnosis in 32% of patients and a possible diagnosis in 22% of patients, for an overall yield of 54%, which she said supports the clinical utility of using WES in this cohort.

In addition, 16% of patients (2 prospective, 6 retrospective) had a diagnosis with possible treatment implications.

The mean time from enrollment with genetic counseling to diagnosis confirmation was 50 days.

“Comparing time from epilepsy diagnosis to genetic diagnosis in [the] prospective or new onset epilepsy group and retrospective group (previously no diagnosis by current standards of testing) revealed that a diagnosis could have been made 95 months sooner if performed at onset of epilepsy in the retrospective group,” Dr. Demos said.

Although the study is ongoing, Dr. Demos noted that the data so far have exceeded expectations.

“Our results support WES as an effective method of identifying the genetic cause of seizures in patients with early onset epilepsy,” she said. “Given the potential for specific treatment implications, its use should be considered early in the diagnostic workup of early onset epilepsy.”

“Besides the possible impact on treatment, identifying a specific genetic cause can also benefit families by allowing for more accurate counseling regarding prognosis and recurrence risks for future pregnancies,” Dr. Demos continued. “A genetic diagnosis also puts an end to the diagnostic odyssey and prevents further unnecessary medical investigations.”

Currently, an economic analysis is underway that will assess the cost savings associated with this study, Dr. Demos said.

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  1. Demos MK, Buerki SE, Guella I, et al. Abstract 1.311. Targeted Analysis of Whole Exome Sequencing in Early Onset Epilepsy. Presented at: American Epilepsy Society Annual Meeting; Dec. 4-8, 2015; Philadelphia.