The Role of Genetic Testing in Dravet Syndrome

This segment explores the critical role of genetic testing in the early identification and management of Dravet syndrome. Dr. Joseph Sullivan emphasizes that broader access to genetic testing has enabled earlier referrals and more informed clinical conversations, helping clinicians avoid contraindicated medications and develop appropriate care plans sooner. He notes, however, that access remains uneven and delays still occur across the healthcare system. The discussion highlights that a small but important subset of patients may test negative for SCN1A mutations despite having a clinical presentation consistent with Dravet syndrome, underscoring the need for continued clinical suspicion and referral to specialized centers. Caregivers share their experiences navigating genetic testing, including uncertainty about why testing was ordered, long waiting periods for results, insurance challenges, and the emotional burden of receiving results without immediate clinical guidance. The segment reinforces the importance of clear communication, education, and specialist involvement to ensure genetic testing meaningfully informs diagnosis, treatment decisions, and family understanding.