Genetic Risk Score May Aid in Making an Accurate Diagnosis of Epilepsy

By Megan Brooks

September 01, 2021

NEW YORK (Reuters Health) - Polygenic risk scores (PRS) could be helpful in making an accurate diagnosis of epilepsy in an individual who has had a single seizure, allowing for early treatment, new research suggests.

"This is still early stages, but we envision that practically, genetic risk could serve as a biomarker, in addition to other already-existing clinical data such as electroencephalograms (EEG) that are usually used to make an epilepsy diagnosis," Dr. Henrike Heyne told Reuters Health by email.

"This could be particularly useful when an individual had an unclear seizure event, where it is often difficult to diagnose whether this person has epilepsy or not, as only half of individuals with epilepsy have an abnormal EEG," said Dr. Heyne.

"It would probably be less useful to determine anyone's absolute risk for epilepsy, because that would still be quite low, even with a high polygenic risk score for epilepsy," she added.

Dr. Heyne presented the study at the European Society of Human Genetics (ESHG) annual meeting.

Together with colleagues at the Institute for Molecular Medicine (FIMM) at the University of Helsinki, Dr. Heyne, now with Hasso Plattner Institute, in Potsdam, Germany, extracted data on 9,660 individuals with epilepsy-related diagnoses from the FinnGen project. The PRS for these individuals were derived and compared with those of healthy controls.

"In FinnGen we could also investigate the health records of participants who had suffered convulsions where the cause was unclear. Although some of them had later received a specific diagnosis of epilepsy, the majority had not. And we found that the genetic risk for epilepsy was significantly higher in individuals who received a specific epilepsy diagnosis than in those with only one seizure where the case was unclear," Dr. Heyne said in a conference news release.

"The genetic risk score can be easily obtained and calculated (and) has already been shown useful for prognosis and risk assessment in multiple other diseases. However it is more difficult to interpret and needs to be compared to a population reference," Dr. Heyne told Reuters Health.

"Genetic information often tells us whether a person is at increased risk to develop a disorder or not. In this study, the authors have pioneered the use of a genetic risk score to identify people at risk for epilepsy," ESHG conference chair Dr. Alexandre Reymond said in the news release.

"Combining genetic data with other more traditional methods such as electroencephalograms could help identification of epileptic individuals, potentially allowing early treatment," Dr. Reymond added.

SOURCE: European Society of Human Genetics annual meeting, presented August 29, 2021.