The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies

Genes

David A. Dyment¹  Taila Hartley¹  Alexandre White-Brown¹  Heather Leduc-Pessah²  Daniela Pohl² 

[1] Department of Genetics, Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada;Division of Neurology, Department of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada;

关键词: epilepsy panel;    genetic epilepsy;    epilepsy;    epileptic encephalopathies;   

DOI  :  10.3390/genes13050872

来源: DOAJ

【 摘 要 】

With the increasing use of genetic testing in pediatric epilepsy, it is important to describe the diagnostic outcomes as they relate to clinical care. The goal of this study was to assess the diagnostic yield and impact on patient care of genetic epilepsy panel testing. We conducted a retrospective chart review of patients at the Children’s Hospital of Eastern Ontario (CHEO) who had genetic testing between the years of 2013–2020. We identified 227 patients that met criteria for inclusion. The majority of patients had their testing performed as “out-of-province” tests since province-based testing during this period was limited. The diagnostic yield for multi-gene epilepsy panel testing was 17% (39/227) and consistent with the literature. Variants of unknown significance (VUS) were reported in a significant number of undiagnosed individuals (77%; 128/163). A higher diagnostic rate was observed in patients with a younger age of onset of seizures (before one year of age; 32%; 29/90). A genetic diagnosis informed prognosis, recurrence risk counselling and expedited access to resources in all those with a diagnosis. A direct change in clinical management as a result of the molecular diagnosis was evident for 9% (20/227) of patients. The information gathered in this study provides evidence of the clinical benefits of genetic testing in epilepsy and serves as a benchmark for comparison with the current provincial Ontario Epilepsy Genetic Testing Program (OEGTP) that began in 2020.

【 授权许可】

Unknown