Adult epilepsy patients are finally getting the same genetic testing advantages that have revolutionized pediatric care, but the journey to close this diagnostic gap reveals surprising insights about how genetic epilepsies actually evolve with age.

Story Highlights

• The new Genetic Epilepsy in Adults Network (GEAN) aims to standardize genetic testing in adult epilepsy clinics across North America
• Over half of all epilepsies have genetic bases, yet adult patients rarely receive the testing that’s routine in pediatric care
• New guidelines from the National Association of Epilepsy Centers now mandate genetic testing and counseling at epilepsy centers
• Genetic testing leads to better treatment options for 80% of patients and seizure reductions up to 90%

The Adult Epilepsy Testing Desert

While genetic testing became standard practice in pediatric epilepsy clinics over the past decade, adult patients remained stranded in a diagnostic wasteland. Many genetic epilepsies either emerge in adulthood or persist from childhood without ever receiving proper genetic evaluation. This created a peculiar medical paradox where a 17-year-old could receive comprehensive genetic testing, but the same patient at 18 would likely go without it.

Elizabeth Gerard from Northwestern Medicine, who leads the newly formed GEAN consortium, puts it bluntly: “We really do not know what it looks like to be an adult with a rare genetic disease.” Her network, sponsored by the American Epilepsy Society, launched in 2025 with the ambitious goal of building databases and conducting studies specifically focused on adult genetic epilepsy outcomes.

The Diagnostic Revolution Arrives

The American Epilepsy Society and National Society of Genetic Counselors now endorse exome sequencing as first-line testing for unexplained epilepsy cases. This represents a seismic shift from the traditional approach of trying multiple medications before considering genetic causes. Comprehensive panels can now screen for hundreds of epilepsy-associated genes, including well-known culprits like SCN1A, which has 718 documented pathogenic variants linked to Dravet syndrome.

The numbers supporting this approach are compelling. Up to 80% of patients who receive genetic diagnoses gain access to better treatment options, with some experiencing seizure reductions of 90% or more. For families who have spent years cycling through ineffective medications, genetic testing offers something previously unimaginable: precision medicine tailored to their specific molecular defect.

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Guidelines Finally Catch Up to Science

The National Association of Epilepsy Centers recently issued new guidelines that, for the first time, mandate genetic testing and counseling at epilepsy centers. This regulatory push comes as genetic testing has become increasingly accessible through telehealth platforms and improved insurance coverage. Companies like GeneDx and Blueprint Genetics now offer comprehensive epilepsy panels that can identify genetic causes in roughly half of unexplained cases.

The timing reflects a broader understanding that genetic epilepsies aren’t just pediatric curiosities that resolve with age. Many persist into adulthood with evolving symptoms that require different management strategies. GEAN’s multi-center approach aims to aggregate data on these rare conditions, since individual hospitals might see only a handful of cases with specific genetic variants.

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Beyond Seizure Control

The most intriguing aspect of this genetic testing expansion involves shifting the treatment paradigm from purely controlling seizures to improving overall quality of life. Gerard emphasizes that GEAN focuses on “holistic care” that considers not just seizure frequency but also cognitive function, mood, and family dynamics. This represents a fundamental change in how epilepsy care is conceptualized and delivered.

Industry predictions suggest 2026 will mark widespread adoption of genetic testing for both newly diagnosed patients and those with drug-resistant epilepsy. The largest-ever genetic study of epilepsy recently identified new therapeutic targets, suggesting that today’s diagnostic advances will fuel tomorrow’s precision treatments. For adult patients who have lived for decades without answers, genetic testing offers something beyond medical benefit: it provides the clarity that comes from finally understanding why their brains work differently.

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Sources:

Genetic Testing in Adult Epilepsy: GEAN’s Plan to Standardize Practice, Study Adult Outcomes
5 Predictions for Epilepsy Care: 2026 and Beyond
Comprehensive Epilepsy Panel
Exome Sequencing for Epilepsy
Largest-ever genetic study of epilepsy finds possible therapeutic targets
Epilepsy Genetics Program
New Guidelines for Centers