Abstracts

Rationale: While there are many different possible causes of epilepsy, approximately 40% of cases are estimated to be caused by genetic factors. Technological advances in genetic testing have led to a substantial growth in our knowledge regarding genetic causes of epilepsy. To our knowledge there are few epilepsy centers in the US that have integrated genetic counseling services into their clinical care.Methods: A retrospective chart review of all patients who received genetic counseling in the Comprehensive Epilepsy Center during the time period of November 2011 to May 2013 was performed. Only patients with intractable epilepsy were included in this study. Results: 235 patients received genetic counseling in the Comprehensive Epilepsy Center from November 2011 to May 2013. Of these 235 patients, 36% (83/235) met clinical criteria for intractable epilepsy. The age range of patients who received genetic counseling was 4 months to 26 years. Roles performed by the genetic counselors included review of family history; counseling regarding personal or family medical history; recurrence risk counseling; review of testing options and/or test coordination and referral for evaluation by a clinical geneticist . While genetic testing was not recommended for the majority of patients (59/83), 24 patients did have one or more genetic tests ordered in conjunction with their genetic counseling session. The most commonly ordered tests were SNP microarray (n=8) and multi-gene panels for infantile onset epilepsy (n=7). Four patients had positive genetic test results. These included homozygous mutations in the RELN gene consistent with lissencephaly, deletion in the CCM2 gene associated with familial cerebral cavernous malformations, a de novo mutation in SCN1A and a de novo mutation in CDKL5 consistent with Rett syndrome.Conclusions: This study shows the successful integration of genetic counseling services into a NAEC Level 4 epilepsy center. Based on our experiences, genetic counselors were more effectively utilized when included as part of the clinical team in a sub-specialty clinic, such as the Epilepsy Surgery Clinic.