November 28, 2022

Genetic Testing for Epilepsy Improves Patient Outcomes

Article published by Northwestern Medicine

Genetic testing in patients with epilepsy can inform treatment and lead to better outcomes in many cases, according to a new study published in JAMA Neurology.

Genetic causes are responsible for seizures in 30 percent or more of infants and toddlers and about 10 percent of adults with epilepsy, but genetic testing is not routinely done. Many insurers are hesitant to cover pricey genetic testing since there’s limited research demonstrating the benefits, which is why the findings of this study are significant, said Anne Berg, PhD, adjunct professor of Neurology in the Division of Epilepsy and Clinical Neurophysiology and co-author of the study.

“I think a lot of us have been really frustrated that there’s this highly effective diagnostic tool out there, genetic testing, that is very much underutilized or when it is utilized, it tends to be used very late in the disease course,” Berg said. “Epilepsy is not a single disease. It’s a symptom that is caused by a multitude of different diseases and a lot of these are genetic. With genetic testing, we now have that specificity in the diagnosis that can often lead to improvements in patient treatment and management. With this study, we looked at patients referred for genetic testing and received a positive molecular diagnosis to see if it made a difference for their care.”

The study, led and funded by genetic testing company Invitae, included patients referred for genetic testing between 2016 and 2020 whose testing revealed a positive molecular diagnosis. The investigators asked the patient’s healthcare providers how the results of the panel test impacted the patient’s treatment plan and outcomes.