Rationale:
The National Society of Genetic Counselors published 2023 evidence-based practice guidelines recommending genetic testing in any aged individual with unexplained epilepsy (J. Genet. Couns. (2023) 32(2) 266-280)
The purpose of this study was to improve provider utilization of genetic testing in the workup for epilepsy surgery. We hypothesized that regular education and discussion as to appropriate utilization of genetic testing in epilepsy surgical workup would increase provider confidence and improve evidence-based practices. In turn, this was expected to provide a more comprehensive evaluation of the etiology and understanding of expected outcomes of surgery in this patient population.
Methods:
A survey was distributed with REDCap via email to a group of surgical epilepsy providers including epileptologists, neurologists, neurosurgeons, trainees, and nurse practitioners. Responses were collected and analyzed anonymously. Identical pre- and post-intervention surveys (Figure 1) were distributed in January 2024 and February 2025, respectively.
From February 15th, 2024 through January 31st, 2025, the following interventions were made:
1. Within a standardized list of pre-operative investigative studies distributed for each epilepsy surgical patient being discussed, a section for genetic testing was added.
2. Within a standardized PowerPoint presentation for each epilepsy surgical patient being discussed, a slide covering genetic testing was included.
3. During a weekly epilepsy surgical conference, there was a brief educational discussion conducted by researchers regarding the results of each patient’s prior genetic testing, known genetic diagnoses, variant interpretation, and/or appropriate next-step testing.
Eleven pre-intervention surveys and fourteen post-intervention surveys were analyzed. For data comparisons, answers to questions 3 through 14 (except 7) were numericized accordingly on a rating scale of 1 to 4. Mann-Whitney U-test was utilized to compare pre- and post- intervention median ratings for each question.
Results:
Pre- and post-intervention, all raters agreed that genetic test results should be included in the epilepsy surgery conference presentation and that they would find discussing genetic testing to be helpful. Post-intervention, providers found genetic testing to be more important and were more likely to order genetic testing in the consideration of epilepsy surgery. Providers were more confident in choosing the appropriate genetic test and interpreting results of genetic testing. Raters were also more likely to refer their patients for neurogenetics evaluation. Subjectively, researchers saw an increase in questions regarding genetic testing and referrals placed by epilepsy providers for neurogenetics consultation for epilepsy surgical patients.
Conclusions:
This quality improvement initiative suggests regular education and discussion results in greater provider confidence and utilization of evidence-based practices surrounding genetic testing in the epilepsy surgical workup. Integration of such discussion is suggested to complement the multi-faceted approach necessary for a comprehensive and careful epilepsy surgery evaluation for every patient.
Funding: n