Abstract
Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels available. We assessed the list of genes tested and consent forms for epilepsy panels available at seven laboratories. The panels varied in the number of genes included (70–465 genes). In some panels, genes not currently associated with epilepsy were included (up to 4 % of panel content). The panels also included genes for lysosomal storage disorders (6–12 %), congenital disorders of glycosylation (0–8.5 %), metabolic disorders (3.5–34 %), neurological syndromes (18–43 %) and multisystemic genetic syndromes (6.4–21 %). Informed consents differed significantly between laboratories ranging from basic information about genetic testing and possible results to information about insurance, genetic counseling and familial testing, and incidental findings.
Our findings suggest that it is important to consider the range of genes offered on epilepsy panels and their predicted phenotypes in an effort toward improving the informed consent process.
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Chelsea Chambers and Radhika Dhamija wrote the first draft of the manuscript. Radhika Dhamija and Laura Jansen provided critical review and supervision.
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List of genetic and neurologic syndromes with the corresponding genes (DOCX 18 kb)
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Chambers, C., Jansen, L.A. & Dhamija, R. Review of Commercially Available Epilepsy Genetic Panels. J Genet Counsel 25, 213–217 (2016). https://doi.org/10.1007/s10897-015-9906-9
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DOI: https://doi.org/10.1007/s10897-015-9906-9