Previously submitted to: JMIR Human Factors (no longer under consideration since Oct 16, 2025)
Date Submitted: Jul 22, 2025
Open Peer Review Period: Jul 25, 2025 - Sep 19, 2025
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Epic Best Practice Advisory for Genetic Testing of Generalized Epilepsies
ABSTRACT
Background:
While there are many types of epilepsy in children, known genetic etiologies predominate given advances in genetic research and clinical testing over the last 20 years. The benefits of early genetic testing include identification of specific etiology, opportunity for precision medicine therapies, increased prognostic information, and cost-effective care. While genetic testing is now widely available, utilization is not optimal.
Objective:
To study genetic testing utilization, we developed within our Epic electronic medical record a Best Practice Advisory (BPA) that notified neurology providers of their pediatric patients whose EEG had generalized discharges. We reasoned that this population had a relatively high yield for genetic etiologies compared to other types of epilepsy. We recorded the responses of providers ordering genetic testing in response to the BPA and investigated if this increased genetic testing utilization in pediatric patients with epilepsy.
Methods:
We developed within our Epic electronic medical record a Best Practice Advisory (BPA) that notified neurology providers of their pediatric patients whose EEG had generalized discharges. We reasoned that this population had a relatively high yield for genetic etiologies compared to other types of epilepsy. We recorded the responses of providers ordering genetic testing in response to the BPA and investigated if this increased genetic testing utilization in pediatric patients with epilepsy.
Results:
Despite the BPA pop-up suggesting genetic testing for known causes of epilepsy may be indicated, neurology providers at a single site CHildren's Hospital in the USA did not alter their ordering practice.
Conclusions:
A BPA for epilepsy genetic testing was not effective. Further attempts may alter genetic testing if more explanation of the rationale for the BPA were explained. This could take the form of prospectively notifying the ordering providers that such a BPA was being implemented as well as more details within the BPA itself. Furthermore, our results suggest more education for neurologists may be needed to increase utilization of genetic testing for generalized forms of epilepsy.
Citation
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