Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy
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Le résumé fourni par la source
Abstract Background To examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy. Methods WES was performed on 50 patients with early-onset epilepsy (≤ 5 years) of unknown cause. Patients were classified as retrospective (epilepsy diagnosis > 6 months) or prospective (epilepsy diagnosis < 6 months). WES was performed on an Ion ProtonTM and variant reporting was restricted to the sequences of 565 known epilepsy genes. Diagnostic yield and time to diagnosis were calculated. An analysis of cost and impact on treatment was also performed. Results A likely/definite diagnosis was made in 17/50 patients (34%) with immediate treatment implications in 8/17 (47%). A possible diagnosis was identified in 9 additional patients (18%) for whom supporting evidence is pending. Time from epilepsy onset to genetic diagnosis was faster when WES was performed early in the diagnostic process (mean: 143 days prospective versus 2,172 days retrospective). Costs of prior negative tests averaged $8,344 in the retrospective group, suggesting savings of up to $5,110 per patient. Interpretation These results support the clinical utility and potential cost-effectiveness of using targeted WES early in the diagnostic workup of patients with unexplained early-onset epilepsy. The costs and clinical benefits are likely to continue to improve. Advances in precision medicine and further studies regarding impact on long-term clinical outcome will be important.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy
- Date Crossref
- 17/05/2017
- Éditeur
- openRxiv
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of British Columbia Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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BC Children's Hospital pays non établi dans la noticeÉtablissement de santé
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University Children’s Hospital Bern pays non établi dans la noticeÉtablissement de santé
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Baylor University Robbins Institute for Health Policy and Leadership pays non établi dans la noticeUniversité ou école supérieure
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University Children’s Hospital Inselspital Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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University of BC Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Division of Laboratory Genetics & Genomics pays non établi dans la noticeStructure de recherche
Department of Pediatrics — University of British Columbia, BC Children's Hospital et University Children’s Hospital Bern, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.