Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Rattachement africain : ca, ch, nl, us. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. WES was performed on 180 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 Proton™ and variant reporting was restricted to the sequences of 620 known epilepsy genes. Diagnostic yield and time to diagnosis were calculated. An analysis of cost and impact on treatment was also performed. A molecular diagnoses (pathogenic/likely pathogenic variants) was achieved in 59/180 patients (33%). Clinical management changed following WES findings in 23 of 59 diagnosed patients (39%) or 13% of all patients. A possible diagnosis was identified in 21 additional patients (12%) for whom supporting evidence is pending. Time from epilepsy onset to a genetic diagnosis was faster when WES was performed early in the diagnostic process (mean: 145 days Prospective vs. 2,882 days Retrospective). Costs of prior negative tests averaged $8,344 per patient in the Retrospective group, suggesting savings of $5,110 per patient using WES. These results highlight the diagnostic yield, 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.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
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
- 21/05/2019
- Éditeur
- Frontiers Media SA
- Type
- journal-article
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 Zurich Division of Neuropediatrics pays non établi dans la noticeÉtablissement de santé
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Amsterdam UMC Location University of Amsterdam pays non établi dans la noticeÉtablissement de santé
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Centre for Addiction and Mental Health pays non établi dans la noticeÉtablissement de santé
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University of Tennessee Health Science Center pays non établi dans la noticeUniversité ou école supérieure
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Department of Pediatrics pays non établi dans la noticeInstitution
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Department of Pathology and Laboratory Medicine Division of Genome Diagnostics pays non établi dans la noticeStructure de recherche
Department of Pediatrics — University of British Columbia, BC Children's Hospital et Division of Neuropediatrics — University Children's Hospital Zurich, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.