title: Genetic testing preferences in families containing multiple individuals with epilepsy.
abstract: OBJECTIVE
  To examine genetic testing preferences in families containing multiple individuals with epilepsy.
  
  
  METHODS
  One hundred forty-three individuals with epilepsy and 165 biologic relatives without epilepsy from families containing multiple affected individuals were surveyed using a self-administered questionnaire. Four genetic testing scenarios were presented, defined by penetrance (100% vs. 50%) and presence or absence of clinical utility. Potential predictors of genetic testing preferences were evaluated using generalized estimating equations with robust Poisson regression models. The influence of 21 potential testing motivations was also assessed.
  
  
  RESULTS
  For the scenario with 100% penetrance and clinical utility, 85% of individuals with epilepsy and 74% of unaffected relatives responded that they would definitely or probably want genetic testing. For the scenario with 100% penetrance but without clinical utility, the proportions who responded that they would want testing were significantly lower in both affected individuals (69%) and unaffected relatives (57%). Penetrance (100% vs. 50%) was not a significant predictor of genetic testing interest. The highest-ranking motivations for genetic testing were the following: the possibility that the results could improve health or health care, the potential to know if epilepsy in the family is caused by a gene, and the possibility of changing behavior or lifestyle to prevent seizures.
  
  
  CONCLUSIONS
  Interest in epilepsy genetic testing may be high in affected and unaffected individuals in families containing multiple individuals with epilepsy, especially when testing has implications for improving clinical care.
authors.affiliation: GH Sergievsky Center, Columbia University, New York, New York, U.S.A; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, U.S.A.
authors.forename: Janice O
authors.initials: JO
authors.lastname: Okeke
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Tangel
authors.forename: Shawn T
authors.initials: ST
authors.lastname: Sorge
authors.forename: Dale C
authors.initials: DC
authors.lastname: Hesdorffer
authors.forename: Melodie R
authors.initials: MR
authors.lastname: Winawer
authors.forename: Jeff
authors.initials: J
authors.lastname: Goldsmith
authors.forename: Jo C
authors.initials: JC
authors.lastname: Phelan
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.forename: Sara
authors.initials: S
authors.lastname: Shostak
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D055815:Young Adult
keywords: Epidemiology; Epilepsy; Genetic testing; Genetics; Patient preferences