Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study
| Autor: | Tobias Loddenkemper, Annapurna Poduri, Marina Gaínza-Lein, Beth Rosen Sheidley, Iván Sánchez Fernández |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Cost effectiveness Population Article 03 medical and health sciences Epilepsy 0302 clinical medicine Internal medicine medicine education health care economics and organizations Genetic testing education.field_of_study medicine.diagnostic_test business.industry Publication bias medicine.disease Confidence interval humanities 030104 developmental biology Meta-analysis Etiology Neurology (clinical) business 030217 neurology & neurosurgery |
| Popis: | ObjectiveTo compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology.MethodsThis meta-analysis and cost-effectiveness study compared strategies involving 3 genetic tests: chromosomal microarray (CMA), epilepsy panel (EP) with deletion/duplication testing, and whole-exome sequencing (WES) in a cost-effectiveness model, using “no genetic testing” as a point of comparison.ResultsTwenty studies provided information on the diagnostic yield of CMA (8 studies), EP (9 studies), and WES (6 studies). The diagnostic yield was highest for WES: 0.45 (95% confidence interval [CI]: 0.33–0.57) (0.32 [95% CI: 0.22–0.44] adjusting for potential publication bias), followed by EP: 0.23 (95% CI: 0.18–0.29), and CMA: 0.08 (95% CI: 0.06–0.12). The most cost-effective test was WES with an incremental cost-effectiveness ratio (ICER) of $15,000/diagnosis. However, after adjusting for potential publication bias, the most cost-effective test was EP (ICER: $15,848/diagnosis) followed by WES (ICER: $34,500/diagnosis). Among combination strategies, the most cost-effective strategy was WES, then if nondiagnostic, EP, then if nondiagnostic, CMA (ICER: $15,336/diagnosis), although adjusting for potential publication bias, the most cost-effective strategy was EP ± CMA ± WES (ICER: $18,385/diagnosis). While the cost-effectiveness of individual tests and testing strategies overlapped, CMA was consistently less cost-effective than WES and EP.ConclusionWES and EP are the most cost-effective genetic tests for epilepsy. Our analyses support, for a broad population of patients with unexplained epilepsy, starting with these tests. Although less expensive, CMA has lower yield, and its use as the first-tier test is thus not supported from a cost-effectiveness perspective. |
| Databáze: | OpenAIRE |
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