Elizabeth Gerard, MD: Advances in Genetic Testing for Epilepsy

“Next-generation sequencing is the tool that really had been put in place several years ago that kind of revolutionized the ability to provide genetic answers both clinically and in the laboratory.”

The introduction of next-generation sequencing in epilepsy has allowed physicians to provide answers to patients with epilepsy who previously may have been left in the dark due to limited resources. Now, whole exosome sequencing, epilepsy focused panels, and microarray testing can provide clarity, depending on the patient’s phenotype.

In addition to the availability in the clinic, many of these tools are offered by commercial companies at reasonable costs for patients, and sometimes can even be covered by insurance., Elizabeth Gerard, MD, associate professor of neurology, and director, Women With Epilepsy Program, Northwestern University Feinberg School of Medicine, told NeurologyLive. And while clinical results may reveal uncertain answers, scientific testing and vetting can help improve the picture, she said.

To find out more how genetic tools and the advances in the landscape of genetics have improved the ability to provide these answers to patients, and influence treatment programs, NeurologyLive sat with Gerard, inquiring about her experience with them.