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Epilepsy Panel Testing Criteria: A Clinical Assessment

Fazenbaker, Andrew (2020) Epilepsy Panel Testing Criteria: A Clinical Assessment. Master's Thesis, University of Pittsburgh. (Unpublished)

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Epilepsy is a common, and often genetic, neurological disorder. The most cost-effective genetic tests for identifying an idiopathic epilepsy etiology are Next-Generation Sequencing (NGS) gene panels. Since 2017, the Genetic Testing Stewardship Program (GTSP) at UPMC Children’s Hospital of Pittsburgh (CHP) has been utilizing a set of epilepsy panel (EP) testing criteria to facilitate appropriate EP ordering practices for patients with epilepsy. Outside of this setting, few guidelines exist to help medical providers decide when to order EPs or to help insurance companies decide on covering them. Following IRB approval, retrospective chart review of the electronic medical record (EMR) was performed for 1,242 patients that were evaluated in the CHP Neurology department for a primary diagnosis of epilepsy between 2016 and 2018. The goal of the study was to identify patients with positive and negative EPs that met criteria in order to calculate the sensitivities and positive predictive values (PPVs) of the criteria. Criteria were organized into four categories, with each successive category accounting for an increased proportion of criteria combinations. The highest respective sensitivity and PPV results in each category were as follows: Category 1 (64.7% and 60%); Category 2, (88% and 30.3%); Category 3, (94.1% and 27.1%); Category 4, (94.1% and 25.4%). Overall, the sensitivities increased and PPVs decreased but remained similar when more criteria were considered together. Family history played a key role in increasing sensitivity. Confidence intervals narrowed as category level increased, improving the reliability of the results. When applied to the untested population from the study cohort, the PPV result from Category 4 predicted 121 patients with unidentified positive EP results. This study presents data supporting the reliability and predictive capabilities of the EP testing criteria and further suggests the addition of a family history criterion. This study impacts public health by opening the door for conversations about adopting evidence-driven policies and by suggesting vetted guidelines to ease EP ordering and coverage decisions and subsequently improve patient access to EP testing.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Fazenbaker, Andrewacf33@pitt.eduacf33
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairVento, Jodie
Committee MemberDurst, Andrea
Committee MemberCarlson, Jenna
Committee MemberMunro, Christine
Date: 30 March 2020
Date Type: Submission
Defense Date: 10 April 2020
Approval Date: 30 July 2020
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 116
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: epilepsy; neurological disorder; NGS gene panels
Date Deposited: 31 Jul 2020 01:14
Last Modified: 23 Mar 2023 18:03


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