A cost-effectiveness analysis has found that an epilepsy panel (EP) with deletion/duplication testing as well as whole-exome sequencing (WES) represent the most cost-effective genetic tests for epilepsy, particularly in comparison with chromosomal microarray (CMA). Results of the analysis were recently published in Neurology.

In the meta-analysis, researchers included 20 studies comprising patients with epilepsy of unknown etiology. Studies aimed to obtain to genetic diagnosis for epilepsy using either CMA, EP with deletion/duplication testing, or WES. A total of 8 studies, 9 studies, and 6 studies provided diagnostic data for CMA, EP, and WES, respectively. The analysis used “no genetic testing” as a comparison with the genetic tests. The main outcome of interest was cost-effectiveness.

The genetic test with the highest diagnostic yield for epilepsy was WES, at 0.45 (95% CI, 0.33-0.57). The second highest diagnostic yield was produced by EP (0.23; 95% CI, 0.18-0.29), and the third highest was CMA (0.08; 95% CI, 0.06-0.12).

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In the unadjusted analysis, cost-effectiveness was also highest with WES, represented by an incremental cost-effectiveness ratio of $15,000 per diagnosis. The adjusted analysis, however, found EP to be the most cost-effective genetic testing solution, represented by an incremental cost-effectiveness ratio of $15,848 per diagnosis. After EP, the incremental cost-effectiveness ratio for WES was $34,500 per diagnosis.

The findings from this study were limited by the researchers’ inability to identify factors within each genetic test that fueled associated costs, as well as the lack of other genetic tests currently used in clinical practice.

“Health care costs have been growing rapidly in recent decades and currently represent approximately one-third of the median household income for families in the United States,” the researchers wrote. “An individualized evaluation of cost-effectiveness based on a priori diagnostic yields for each of the targeted populations and costs for each test is expected to optimize diagnostic yield and use of resources.”


Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study [published online January 4, 2019]. Neurology. doi: 10.1212/WNL.0000000000006850

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This article originally appeared on Neurology Advisor