Epilepsy panel testing criteria: A clinical assessment.

Area of Science:

• Neurology
• Genetics
• Medical Diagnostics

Background:

• Epilepsy is a common neurological disorder with a frequent genetic component.
• Existing guidelines for ordering and covering epilepsy panels (EPs) are limited.
• The Genetic Testing Stewardship Program (GTSP) at UPMC Children's Hospital of Pittsburgh (CHP) developed internal criteria for EP testing since 2017.

Purpose of the Study:

• To assess the sensitivity and positive predictive values (PPV) of internally developed epilepsy panel (EP) testing criteria.
• To provide data supporting evidence-based guidelines for EP ordering and insurance coverage.

Main Methods:

• Retrospective chart review of electronic medical records (EMR) for 1242 neurology patients diagnosed with epilepsy between 2016-2018.
• Analysis of 109 patients who underwent EP testing, categorizing criteria into groupings (C1-C4).
• Evaluation of sensitivity and PPV for each category grouping, individually and in combination.

Main Results:

• Highest sensitivity and PPV varied by category: C1 (64.7%, 60%), C2 (88%, 30.3%), C3 (94.1%, 27.1%), C4 (94.1%, 25.4%).
• Family history was identified as a crucial factor for increasing testing sensitivity.
• Applying C4 PPV to the untested cohort predicted 121 additional patients with positive EPs.

Conclusions:

• The study supports the predictive capability of EP testing criteria and suggests incorporating family history.
• Findings can inform the development of evidence-driven insurance policies for genetic testing in epilepsy.
• Improved guidelines can facilitate appropriate EP ordering and coverage, potentially enhancing patient access to diagnostic testing.