Abstract Details

Title Identification of Candidates for Genetic Testing in the Adult Epilepsy Monitoring Unit

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) S13 - Epilepsy/Clinical Neurophysiology (EEG) 1 (1:48 PM-2:00 PM)

Poster/Presentation
Number 005

Objective To assess the prevalence of patients admitted to the Adult Epilepsy Monitoring Unit who might benefit from genetic counseling.

Background Genetic testing for patients with epilepsy remains underutilized in adult epilepsy centers despite evidence for its potential to elucidate the etiology of a patient’s epilepsy as well as its role in reproductive decision-making and effective treatment selection. Admission into an adult epilepsy monitoring unit presents an intriguing opportunity to introduce genetic counseling to patients as part of the ongoing investigation into the etiology of and optimal treatment for their epilepsy.

Design/Methods A retrospective chart review of 763 patients admitted to the Northwestern Medicine Epilepsy Monitoring Unit (EMU) between March 2014 and December 2017 was performed. Patients appropriate for genetic testing were identified based on family history of epilepsy, malformations of cortical development, comorbid neurocognitive features, and suspected genetic syndromes. For these patients, rates of genetic testing consideration, discussion, referral and completion were examined along with demographic information.

Results There were 18% (139/769) of EMU patients who satisfied criteria for genetic testing. Epileptologists documented consideration of a genetic etiology for epilepsy in 60% (83/139) of candidate patients. Once considered, 79% (63/80) of patients were engaged in discussion about genetic testing, with 54% (34/63) resulting in referrals to genetic counseling. Only female sex was positively associated with an increased likelihood of referral (p=0.005). Overall, of 60 patients who completed genetic testing for epilepsy at our institution during the same time period, 31 (52%) were seen in the EMU.

Conclusions This study highlights an opportunity for a standardized protocol to assist in identifying candidates for genetic testing in an adult EMU. Further research is also needed to understand additional potential barriers to this process, including the evaluation of patient readiness for genetic conversations and rationale for pursuing or declining testing.

Authors/Disclosures
Jannis R. Brea PRESENTER	No disclosure on file
	No disclosure on file
Elizabeth Cunningham	No disclosure on file
	No disclosure on file
	No disclosure on file
Elizabeth Gerard, MD (Northwestern University)	Dr. Gerard has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Xenon. The institution of Dr. Gerard has received research support from NIH/NINDS. The institution of Dr. Gerard has received research support from Xenon Pharmaceuticals. The institution of an immediate family member of Dr. Gerard has received research support from NIH. The institution of Dr. Gerard has received research support from Eisai, Inc. (via Stanford University). Dr. Gerard has received publishing royalties from a publication relating to health care.

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