Review of Commercially Available Epilepsy Genetic Panels (original) (raw)

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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References

• de Koning, T. J., Jongbloed, J. D., Sikkema-Raddatz, B., & Sinke, R. J. (2014). Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges. Expert Review of Molecular Diagnostics. doi:https://doi.org/10.1586/14737159.2015.976555. 1–10.
  Article Google Scholar
• Green, R. C., Berg, J. S., Grody, W. W., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574. doi:https://doi.org/10.1038/gim.2013.73.
  Article CAS Google Scholar
• Kwan, P., Schachter, S. C., & Brodie, M. J. (2011). Drug-resistant epilepsy. New England Journal of Medicine, 365(10), 919–926. doi:https://doi.org/10.1056/NEJMra1004418.
  Article CAS Google Scholar
• Ormond, K. E. (2013). From genetic counseling to “genomic counseling”. Molecular Genetics & Genomic Medicine, 1(4), 189–193. doi:https://doi.org/10.1002/mgg3.45.
  Article Google Scholar
• Parisi, P., Oliva, A., Coll Vidal, M., Partemi, S., Campuzano, O., & Brugada, R. (2013). Coexistence of epilepsy and brugada syndrome in a family with SCN5A mutation. Epilepsy Research, 105(3), 415–418. doi:https://doi.org/10.1016/j.eplepsyres.2013.02.024.
  Article CAS Google Scholar
• Platt, J., Cox, R., & Enns, G. M. (2014). Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms. Journal of Genetic Counseling, 23(4), 594–603. doi:https://doi.org/10.1007/s10897-013-9683-2.
  Article Google Scholar
• Pong, A. W., Pal, D. K., & Chung, W. K. (2011). Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatric Neurology, 44(5), 317–327. doi:https://doi.org/10.1016/j.pediatrneurol.2011.01.017.
  Article Google Scholar
• Scheffer, I. E. (2014). Epilepsy genetics revolutionizes clinical practice. Neuropediatrics, 45(2), 70–74. doi:https://doi.org/10.1055/s-0034-1371508.
  Article Google Scholar
• Sweetman, L., Millington, D. S., Therrell, B. L., Hannon, W. H., Popovich, B., Watson, M. S., & van Dyck, P. C. (2006). Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics, 117(5 Pt 2), S308–314. doi:https://doi.org/10.1542/peds.2005-2633J.
  Article Google Scholar
• Wang, J., Gotway, G., Pascual, J. M., & Park, J. Y. (2014). Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurology, 71(5), 650–651. doi:https://doi.org/10.1001/jamaneurol.2014.405.
  Article Google Scholar

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Authors and Affiliations

1. Department of Neurology, University of Virginia, PO Box 800394, Charlottesville, VA, USA
   Chelsea Chambers, Laura A. Jansen & Radhika Dhamija
2. Department of Pediatrics (Division of Genetics and Metabolism), University of Virginia, PO Box 800394, Charlottesville, VA, USA
   Chelsea Chambers & Radhika Dhamija

Authors

1. Chelsea Chambers
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2. Laura A. Jansen
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3. Radhika Dhamija
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Correspondence toRadhika Dhamija.

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Author Contributions

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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All authors have no conflicts of interest to declare

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Supplemental File 1

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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• Received: 27 January 2015
• Accepted: 20 October 2015
• Published: 01 April 2016
• Issue Date: April 2016
• DOI: https://doi.org/10.1007/s10897-015-9906-9

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