A research team led by Cleveland Clinic’s Genomic Medicine Institute in the US has created genetic-based risk scores to help identify high-risk epilepsy patients.
The quantitative polygenic risk scores are designed to indicate the overall genetic risk for epilepsy.
A study by the researchers found that the scores accurately differentiate between healthy and epilepsy patients on a cohort level. The scores can also distinguish people with generalised and focal epilepsies.
Prediction of epilepsy development after the first seizure is considered complex. Genetic risk scores are intended to support diagnosis and early treatment of the disease.
Cleveland Clinic Genomic Medicine Institute researcher Dennis Lal said: “The fact that we can now identify people at high risk for epilepsy, and even start to distinguish between the two main types of epilepsy, based on genetic scores is really exciting. These landmark results set the stage for an entirely new direction of epilepsy research.”
Genome-wide association studies (GWAS) have led to the finding of various common genetic variants for epilepsy. However, the variants’ small effect size limits their use in quantifying a patient’s genetic risk.
Also, analysis of a single common genetic risk variant does not consider the impact of additional variants on overall epilepsy risk, added the researchers.
To develop the scores, the team combined all common genetic variants found in multiple GWAS cohorts, which comprised more than 12,000 epilepsy patients and 24,000 healthy controls.
The data was used to calculate polygenic risk scores in more than 8,000 epilepsy patients and 622,000 population controls.
Cleveland Clinic Epilepsy Center director Imad Najm said: “While additional research is necessary, we believe these findings will lay the groundwork for one day using genetic risk assessments in the clinic to diagnose common epilepsies and guide precision treatment earlier in the disease process.”
The Epilepsy Center provided the genetic data used in the study, which was funded by the National Institutes of Health (NIH).