Abstracts

Rationale: The field of genetics has been revolutionized over the last two decades, from both a research and clinical care perspective. In epilepsy, the impact of new genetic testing technologies has led to a paradigm shift in the way we think about the etiology of disease. Recent publications find causative de novo variants in approximately 30% of patients with severe epilepsies and provide evidence for a strong genetic component in an even larger subset of patients. The recent launch of the Precision Medicine Initiative makes the implementation of genetic medicine into every day medical practice critically important. In some instances, genotype specific treatment is already indicated, but the current lack of awareness about the importance of genetic testing among epilepsy clinicians puts optimal patient care at risk. While genetic counselors (GCs) have been involved in neurology practices for many years, until recently there were none who specialized in epilepsy. The advent of next generation sequencing, which revolutionized molecular testing options for patients with epilepsy, has also changed the landscape of genetic counseling. Of the more than 100 GCs who specialize in neurogenetics, there are now over 30 GCs with specialized expertise in epilepsy genetics. Methods: In February 2016, a group of GCs specializing in epilepsy genetics formally announced a collaboration called EpiGC (http://epilepsygenetics.net/epigc-genetic-counseling-for-patients-with-epilepsy/). Our mission is promote access to quality genetics services for patients and families affected by epilepsy through research, public policy/advocacy, education and outreach. Members of the group come from diverse areas of practice, including clinical care, diagnostic laboratories, and clinical research. The goals of EpiGC are to: 1) serve as a resource/provide education to the neurology community and advocacy groups; 2) promote the value of genetics and genetic counseling in the clinical evaluation of patients with epilepsy; 3) promote the use of genetic testing laboratories that utilize the expertise of genetic counselors; and 4) advocate for the improved reimbursement of genetic testing for epilepsy. Results: EpiGC has begun efforts to influence policy development and educational outreach with key professional entities, including the development of a National Society of Genetic Counselors (NSGC) practice guideline for epilepsy genetics testing and counseling. We are launching a website (www.epigc.org) which will provide education and resources to families, advocacy groups and healthcare providers. We are also exploring the possibility of establishing a not-for-profit organization to more effectively facilitate the execution of our mission. Conclusions: EpiGC represents an effort by GCs specializing in epilepsy to promote the incorporation of genetic medicine into epilepsy practice. This type of collaboration is a unique and important model for providing valuable resources to patients with epilepsy, their family members, and their healthcare providers. Funding: N/A