Review of Commercially Available Epilepsy Genetic Panels
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REVIEW PAPER
Review of Commercially Available Epilepsy Genetic Panels Chelsea Chambers 1,2 & Laura A. Jansen 1 & Radhika Dhamija 1,2
Received: 27 January 2015 / Accepted: 20 October 2015 # National Society of Genetic Counselors, Inc. 2015
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. Keywords Next generation sequencing . Epilepsy . Genetic counselling Electronic supplementary material The online version of this article (doi:10.1007/s10897-015-9906-9) contains supplementary material, which is available to authorized users. * Radhika Dhamija [email protected] 1
Department of Neurology, University of Virginia, PO Box 800394, Charlottesville, VA, USA
2
Department of Pediatrics (Division of Genetics and Metabolism), University of Virginia, PO Box 800394, Charlottesville, VA, USA
Introduction Epidemiological studies have shown that approximately 40– 50 million people in the world have epilepsy and one-third of all epilepsy is medically intractable (Kwan et al. 2011). Evaluation of the genetic basis of intractable epilepsy is one of the most frequent referral indications in a Neurogenetics clinic. There has been rapid increase in our knowledge of epilepsy genetics in the last two decades (Scheffer 2014). Epilepsy can have an identifiable genetic cause in many patients previously thought to have an idiopathic form of epilepsy (Pong et al. 2011). In addition to single gene mutations causing epilepsy, we now know that a combination of mutations in multiple genes can also cause epilepsy (Pong et al. 2011). Epilepsy is also one of the protean manifestations of many dysmorphology and multisystemic genetic syndromes and often occurs in neurodegenerative diseases. Next-generation DNA sequencing, also referred to as massively parallel sequencing, is a high-throughput DNA sequencing technology that is capable of sequencing large numbers of genes in a single reaction. Next generation sequencing (NGS) panels are now used widely in clinical settings to try to identify genetics causes
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