Genetic testing has increased our understanding of the genetic causes of epilepsy exponentially in the past two decades, specifically helping researchers identify many genes responsible for rare childhood epilepsies. Recent studies found that in addition to providing patients and their loved ones some relief in ending their often too long diagnostic odyssey, genetic testing can enable tailored treatment options and can help with long-term outcome prediction, and family risk and planning decisions. However, there are still many individuals who lack a genetic diagnosis, including adults who may not even be aware that they could benefit from genetic testing.
This webinar will help viewers understand who may want to discuss genetic testing with their doctor and then will explore the following questions following genetic testing:
• How do I read my genetic testing report?
• What are the different types of genetic results (or variants)?
• What are the differences between benign, pathogenic, and uncertain variants?
• What do I do now that I have received a genetic diagnosis?
• How do these results impact my or my loved one’s care?
This webinar is the first of two webinars in March that address CURE Epilepsy’s ongoing focus on epilepsy genetics and research in the rare epilepsies. Our second webinar will focus on genetic testing in adults and will be held on March 22, 2024. Please see www.CUREepilepsy.org/webinars for more information on these webinars and our previous webinars.
Speaker
Katie Angione, MS, CGC, is a neurology genetic counselor at Children’s Hospital Colorado (CHCO) in Aurora, Colorado. She provides genetic counseling for a diverse population of patients with complex neurological disorders, with a focus on developmental and epileptic encephalopathies. Katie works with patients and families with rare diseases in CHCO’s Rett Clinic, Neurogenetics Clinic, and a multidisciplinary clinic serving patients with STXBP1, SLC6A1, Ring 14, and Chromosome 8p disorders. Her primary goal as a genetic counselor is to support patients and their families through education, advocacy, and research efforts focused on understanding the natural history of these conditions, and eventually working toward precision diagnoses and treatments.
26 мар 2024
