Abstract Details

Title Diagnostic Yield of Genetic Testing in Adults with Epilepsy

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P7 - Poster Session 7 (11:45 AM-12:45 PM)

Poster/Presentation
Number 1-010

Objective To determine the yield of genetic testing in adults with epilepsy across various testing types (exome sequence, gene panel, microarray) and across patient characteristics (type of epilepsy, intellectual disability, drug resistance, and family history of epilepsy).

Background Most studies of genetic testing for epilepsy have focused on pediatric populations. Less is known about the results of genetic testing for adult populations.

Design/Methods We conducted a retrospective review on patients (age 18 or older) with epilepsy who were seen in the neurogenetics clinics at Penn and CHOP and who underwent clinical genetic testing. All genetic testing orders were placed at the discretion of the ordering clinicians, and a single patient could undergo multiple tests. The pathogenicity of identified variants was determined using ACMG criteria and the clinical interpretation of the neurogenetics team.

Results The patient cohort included 282 patients with an age range of 18-73 years (median 24). Of this population, 67 out of 282 patients (24%) received a genetic diagnosis. The epilepsy type that resulted in the highest diagnostic yield was DEE (41%). The diagnostic yield was higher for patients with intellectual disability (41%) vs. without (14%). The yield was similar for patients with drug resistant epilepsy (28%) vs. drug responsive epilepsy (23%) (chi-squared p = 0.07). The age at testing was not significantly associated with the likelihood of a genetic diagnosis (Wilcoxon p = 0.74). Diagnostic yield was highest for exome sequencing (38%), but also substantial for gene panels (14%) and microarray (27%). The 67 genetic diagnoses represented 53 unique genes/loci, highlighting the genetic heterogeneity of epilepsy.

Conclusions The yield of genetic testing in adults with epilepsy is substantial, and similar to the yield in pediatric populations. Healthcare providers should perform genetic testing in appropriately selected patients regardless of age.

Authors/Disclosures
Juliette Copeland PRESENTER	Miss Copeland has nothing to disclose.
Aaron Baldwin (University of Pennsylvania)	No disclosure on file
Anna Raper (Penn Medicine)	No disclosure on file
Katherine Helbig	No disclosure on file
Katie Rose Sullivan (Children's Hospital of Philadelphia)	No disclosure on file
Natalie Ginn (Children's Hospital of Philadelphia)	No disclosure on file
Sarah Ruggiero	No disclosure on file
Laina Lusk	Laina Lusk has received personal compensation in the range of $0-$499 for serving as a Consultant for Ambry Genetics. The institution of Laina Lusk has received research support from NINDS.
Stacey Cohen	No disclosure on file
Amanda Back (Children's Hospital of Phialdelphia)	No disclosure on file
Mark P. Fitzgerald, MD, PhD (Children's Hospital of Philadelphia)	Dr. Fitzgerald has nothing to disclose.
Shavonne Massey, MD (Children'S Hospital of Philadelphia)	Dr. Massey has a non-compensated relationship as a consultant with Sun Pharmaceutical Ltd that is relevant to AAN interests or activities.
Pamela Pojomovsky McDonnell, MD (The Children'S Hospital of Philadelphia)	Dr. Pojomovsky McDonnell has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Connected Research. Dr. Pojomovsky McDonnell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Ceribell.
Ethan M. Goldberg, MD, PhD (The Children's Hospital of Philadelphia)	Dr. Goldberg has nothing to disclose.
Ingo Helbig, MD	Ingo Helbig has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Encoded Therapeutics, Inc. Ingo Helbig has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Capsida Biotherapeutics. The institution of Ingo Helbig has received research support from NIH.
Colin A. Ellis, MD (University of Pennsylvania)	Dr. Ellis has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Epiminder.

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