A cost-effective 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).
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.
“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
SOURCE: By B May for Neurology Advisor