Genetic Testing Is Increasing Before Epilepsy Surgery
Source: Epileptic disorders : international epilepsy journal with videotape
Summary
What was studied
This study looked at how often genetic testing was used in people being evaluated for epilepsy surgery at one tertiary epilepsy center in Finland over about 10 years. It included both children and adults. Of 563 people evaluated for surgery from 2015 to 2024, 448 had consented to be part of a research database and were included in this analysis.
The researchers assessed genetic testing performed before or during the presurgical workup, how often a genetic cause of epilepsy was found, and how genetic findings may have influenced clinical treatment decisions and outcomes.
What they found
Genetic testing was done in 117 of 448 patients, or about 26%. Testing became more common over time, rising from 6.1% of patients evaluated in 2016 to 40.5% in 2024. A genetic cause of epilepsy was identified in 36 of 448 patients, or 8%, and this also increased over time, from 1.1% in 2015 to 13.5% in 2024.
Among the 36 patients with a genetic diagnosis, 4 underwent resective epilepsy surgery. Of those 4, 2 were completely seizure-free 1 year after surgery. The authors conclude that germline genetic testing is increasingly incorporated into presurgical evaluation and is associated with higher detection of underlying genetic etiologies, which may help provide additional context for treatment planning and prognostic assessment.
Limits of the evidence
This was a single-center study, so the results may not apply the same way in other hospitals or countries. Not all patients evaluated for surgery were included, because only those who consented to the research database were analyzed. Also, only about one quarter of the included patients had genetic testing, so some genetic causes may have been missed.
The study mainly describes patterns of testing and diagnosis over time. It does not prove that genetic testing directly improved outcomes or changed care in a measurable way. The abstract also does not give details about which genetic tests were used, which genes were found, or exactly how results influenced decisions for individual patients.
For families and caregivers
For families, this study suggests that genetic testing is becoming a more common part of the workup when epilepsy surgery is being considered. Finding a genetic cause may give doctors more information about why seizures are happening and may help with planning next steps.
At the same time, a genetic finding does not automatically rule in or rule out surgery, and this study does not show that testing by itself leads to better seizure outcomes. It mainly shows that testing can add useful context during decision-making.
What to watch next
Larger studies across multiple centers could help clarify how genetic results influence treatment choices and outcomes in presurgical epilepsy care.
Terms in this summary
- genetic testing
- Tests that look at a person's DNA to find changes that may help explain a disease.
- etiology
- The underlying cause of a disease or condition.
- presurgical evaluation
- The set of tests and visits done to decide whether surgery is a good option.
- tertiary epilepsy center
- A specialized hospital center with advanced expertise in diagnosing and treating epilepsy.
- germline
- A DNA change that is present in the body's cells from birth and can sometimes be inherited.
- resective epilepsy surgery
- An operation that removes the part of the brain thought to be causing seizures.
- prognostic assessment
- An estimate of how a condition may behave or what outcome is likely.
Free: Seizure First Aid Quick Guide (PDF)
Plus one plain-language weekly digest of new epilepsy research.
Unsubscribe anytime. No medical advice.