Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada
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Le résumé fourni par la source
BACKGROUND: Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for causative variants in multiple genes. There are currently no NGS-based multigene panel diagnostic tests available for epilepsy as a licensed clinical diagnostic test in Ontario, Canada. Eligible patient samples are sent out of country for testing by commercial laboratories, which incurs significant cost to the public healthcare system. OBJECTIVE: An expert Working Group of medical geneticists, pediatric neurologists/epileptologists, biochemical geneticists, and clinical molecular geneticists from Ontario was formed by the Laboratories and Genetics Branch of the Ontario Ministry of Health and Long-Term Care to develop a programmatic approach to implementing epilepsy panel testing as a provincial service. RESULTS: The Working Group made several recommendations for testing to support the clinical delivery of care in Ontario. First, an extension of community healthcare outcomes-based program should be incorporated to inform and educate ordering providers when requesting and interpreting a genetic panel test. Second, any gene panel testing must be "evidence-based" and takes into account varied clinical indications to reduce the chance of uncertain and secondary results. Finally, an ongoing evaluative process was recommended to ensure continued test improvement for the future. CONCLUSION: This epilepsy panel testing implementation plan will be a model for genetic care directed toward a specific set of conditions in the province and serve as a prototype for genetic testing for other genetically heterogeneous diseases.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada
- Date Crossref
- 30/10/2019
- Éditeur
- Cambridge University Press (CUP)
- 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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Children's Hospital of Eastern Ontario Department of Genetics pays non établi dans la noticeÉtablissement de santé
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Western University Department of Pathology and Laboratory Medicine pays non établi dans la noticeUniversité ou école supérieure
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London Health Sciences Centre pays non établi dans la noticeÉtablissement de santé
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Children's Hospital of Western Ontario pays non établi dans la noticeÉtablissement de santé
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Thunder Bay Regional Health Sciences Centre pays non établi dans la noticeÉtablissement de santé
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McMaster University pays non établi dans la noticeUniversité ou école supérieure
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Queen's University pays non établi dans la noticeUniversité ou école supérieure
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Kingston General Hospital pays non établi dans la noticeÉtablissement de santé
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Hospital for Sick Children Division of Neurology pays non établi dans la noticeÉtablissement de santé
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London Health Sciences Center & Schulich School of Medicine and Dentistry Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Thunder Bay Regional Health Science Centre pays non établi dans la noticeInstitution
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Faculty of Health Sciences Department of Pathology and Molecular Medicine pays non établi dans la noticeUniversité ou école supérieure
Department of Genetics — Children's Hospital of Eastern Ontario, Department of Pathology and Laboratory Medicine — Western University et London Health Sciences Centre, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.