Fazenbaker, Andrew
(2020)
Epilepsy Panel Testing Criteria: A Clinical Assessment.
Master's Thesis, University of Pittsburgh.
(Unpublished)
Abstract
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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Details
| Item Type: |
University of Pittsburgh ETD
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| Status: |
Unpublished |
| Creators/Authors: |
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| ETD Committee: |
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| 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 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/38362 |
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