Abstracts

Rationale: Genetic causes are found in early-onset epilepsy without an etiology determined following initial history, neuroimaging, and EEG.  We sought to quantify the demand for genetic testing and implement an intervention to increase the number of patients who are able to obtain timely genetic testing and receive appropriate counseling. Methods: To facilitate quality diagnostic testing and follow up, a specialty Epilepsy Genetic Testing Clinic (EGTC) was initiated in May of 2017. There are 4 members of the team: an Epileptologist, Advanced Practice Nurse (APN), Genetic Counselor, and Social Worker. We compared the number of Whole Exome Sequence analyses sent for 9 months prior to opening the clinic and those sent in the 9 months after opening the clinic.  Results: From May-December 2017 (8 months), there were 75 visits in the EGTC, while there were 48 patients seen from January-March 2018 (3 months). Each patient was discussed in rounds and received a personalized testing algorithm, genetic counseling, and follow up regarding any results. Eleven whole exome sequencing tests were sent for epilepsy from September 2016-May 2017 and 38 from June 2017-February 2018. Conclusions: Using an APN-run specialty clinic with genetic counselor we increased the number of patients who are able to obtain timely genetic testing and receive support regarding the implications of testing as well as the results. Knowing the underlying genetic cause can alter medical management, end the diagnostic odyssey, connect families with others in a similar situation, avoid further invasive testing, and provide families with information for family planning purposes. Funding: We did not receive or use any funding in support of this abstract.