title: Genetic testing in the epilepsies--report of the ILAE Genetics Commission.
abstract: In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice.
authors.affiliation: G. H. Sergievsky Center and Department of Epidemiology, Columbia University, New York, NY, USA. ro6@columbia.edu
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Satish
authors.initials: S
authors.lastname: Jain
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Noebels
authors.forename: José
authors.initials: J
authors.lastname: Serratosa
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D004992:Ethics, Medical; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000941:ethics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011237:Predictive Value of Tests; D011379:Prognosis; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D055815:Young Adult