Abstracts

Rationale:

Seizure management in patients with epilepsy has profound implications on healthcare utilization and the patient’s quality of life. During the diagnostic process, patients typically have multiple procedures such as magnetic resonance imaging (MRI) and electroencephalography (EEG). Patients who are diagnosed with epilepsy may have genetic testing which can aid medical management and reduce seizure burden. Previous studies have examined the reduction of healthcare utilization from patients who have improved seizure control but no study has examined the change in healthcare utilization pre and post positive diagnostic epilepsy genetic testing.

Methods:
This study used health insurance claims data that were linked to genetic testing laboratory data using a de-identified process. The genetic testing data was from patients with positive diagnostic genetic testing for epilepsy. Patients were < 18 years old at testing, continuously enrolled 12 months both pre and post genetic testing report release (index) date. Chi-squared tests with Yates’ continuity correction were used to compare pre and post-testing utilization with alpha p < 0.05.

Results:
A total of 4,384 pediatric patients were identified with both health insurance claims data and a positive genetic testing result. The most commonly observed genes with positive results were SCN1A (15.6%), PRRT2 (11.2%), KCNQ2 (7.6%), MECP2 (3.5%), DEPDC5 (3.2%), and PCDH19 (3.0%). A subset of 605 patients had claims data both 12-months pre and post genetic testing. Of those, 50% were female, with 60.5% Medicaid and 39.5% commercial payer source. There were more emergency room (ER) visits in the pre-genetic testing period than in the post-positive genetic testing results period (114 [18.8%] to 85 [14%], p = 0.030). MRI and EEG procedures pre-to-post genetic testing significantly decreased from 115 (19%) to 36 (6%), p = < 0.0001 and 248 (41%) to 137 (23%),