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Abstract Details

Yield of Epilepsy Gene Panel Testing Among Adult and Pediatric Patients at a Regional Academic Medical Center
Epilepsy/Clinical Neurophysiology (EEG)
P11 - Poster Session 11 (8:00 AM-9:00 AM)
9-010
To compare the yield of epilepsy gene panel testing (EGPT) between pediatric and adult patients tested at a regional academic medical center.
Age of seizure onset is inversely proportional to EGPT yield, yet there are few studies of EGPT yield in adults.
This single-center cohort study included all patients who underwent EGPT through a genetic testing company (Invitae) between 1/1/2016 and 9/16/2024. EGPT results were considered “positive” if reports included pathogenic (P) or likely pathogenic (LP) variants, “uncertain” if only variants of uncertain significance (VUS) were found (nothing pathogenic), and “negative” if no P/LP/VUS were identified in genes present on EGPT at the time of testing. Analysis was conducted as quality improvement to increase access to genetic testing and counseling resources.  
823 unique patients underwent EGPT, including 526 (64%) peds and 297 (36%) adults (aged 18+ years at time of testing). Among pediatric results, there were 137 (26%) positives, 299 (57%) uncertain, and 90 (17%) negatives. Among adult results, there were 79 (27%) positives, 171 (58%) uncertain, and 47 (16%) negatives. EGPT size ranged from 80 epilepsy-associated genes in 2016 to over 350 in 2024. P/LP variants were most reported in the genes SCN1A (17), POLG (15), DEPDC5 (14), SZT2 (12), NPRL3 (11), SCN9A (11), DOCK7 (9), KCNQ2 (9), ADSL (8), KCNH2 (8) KCNT1 (8), PRRT2 (8), and SCN8A (8).

Yield of EGPT was similar amongst pediatric and adult patients in this academic center’s cohort. Lower than expected pediatric yield was likely influenced by many pediatric patients undergoing whole exome sequencing instead of EGPT, while higher than expected adult yield was likely influenced by preferential testing of adults with childhood-onset epilepsy. A major study limitation is that true diagnostic yield of EGPT could not be calculated given limited adult access to formal medical geneticist consultation for definitive diagnosis.
Authors/Disclosures
Marissa Kellogg, MD, MPH, FAAN (VA Portland Healthcare System, Dept of Neurology)
PRESENTER 		The institution of Dr. Kellogg has received research support from VA & DoD.
Andrea Hildebrand (VA Portland Health Care System) The institution of Ms. Hildebrand has received research support from National MS Society.
Kathryn Matthews, LCGC Mrs. Matthews has nothing to disclose.
David C. Spencer, MD, FAAN Dr. Spencer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Jazz Pharmaceuiticals. Dr. Spencer has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for NeuroPace Inc. Dr. Spencer has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Various. The institution of Dr. Spencer has received research support from NIH. Dr. Spencer has received publishing royalties from a publication relating to health care. Dr. Spencer has received personal compensation in the range of $500-$4,999 for serving as a Faculty in Teaching Course supported by unrestricted educational grants with Creative 好色先生 Concepts.
Katherine Park, MD (Oregon Health Sciences University) Dr. Park has nothing to disclose.
Matthew McCaskill, DO (Oregon Health Science University) Dr. McCaskill has nothing to disclose.
Lia D. Ernst, MD (Oregon Health and Science University) Dr. Ernst has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Jazz.
Paul V. Motika, MD (Oregon Health and Science University) Dr. Motika has nothing to disclose.
Laura Bliss, MD Dr. Bliss has nothing to disclose.
R J. Coryell, MD (Doernbecher Childrens Hospital) The institution of Dr. Coryell has received research support from Pediatric Epilepsy Research Foundation.
Ittai Bushlin, MD, PhD (Oregon Health & Science University) Dr. Bushlin has nothing to disclose.