Exome Testing in Adults with Seizures Shows Comparable Diagnostic Rates to Pediatric-Tested Individuals
Abstract number :
2.045
Submission category :
12. Genetics / 12A. Human Studies
Year :
2025
Submission ID :
1235
Source :
www.aesnet.org
Presentation date :
12/7/2025 12:00:00 AM
Published date :
Authors :
Michelle Morrow, MS, PhD – GeneDx
Presenting Author: Elizabeth Butler, MS – GeneDx
Patricia Lopes, PhD – GeneDx
KIrsty McWalter, MS – GeneDx
Rationale: Genetic testing guidelines issued by the National Society for Genetic Counselors and endorsed by the American Epilepsy Society conditionally recommend exome sequencing as a first-line test for individuals with seizures, without limitation of age. However, adults may go untested due to a lack of perceived clinical benefits for this demographic. We address this perception by analyzing a large cohort of adults with a clinical indication of seizures to assess the diagnostic rate and identify potential for changes to medical management.
Methods: We identified a cohort of over 16,000 individuals with seizures who had clinical exome sequencing performed at a diagnostic lab (GeneDx) over a period of three years. We compared the sub-cohort of 2,545 individuals who were 18 years of age or older at the time of testing (adult cohort) to the sub-cohort aged younger than 18 years at the time of testing (pediatric cohort). We compared diagnostic rates, the potential for changes to clinical
Genetics