Genetic Counseling in Dravet Syndrome and Barriers to Access

This segment explores the role of genetic counselors and the broader challenges families face in navigating genetic testing and diagnosis for Dravet syndrome. Caregivers describe their experiences with genetic counseling as educational but often overwhelming, noting that complex information, probabilities, and uncertainty can be difficult to process during an already emotional time. Several families share that while genetic counseling provided background information, clarity often came later through clinicians with deep expertise in Dravet syndrome who could interpret genetic findings within the full clinical context. Dr. Joseph Sullivan discusses how genetic counselors are particularly valuable when results are ambiguous or variants of uncertain significance are identified, while emphasizing that syndrome-specific expertise remains critical. The segment also highlights systemic barriers, including insurance delays, uneven access to specialized centers, and geographic disparities in care. Caregivers reflect on how waiting periods, false reassurance during seizure-free intervals, and fragmented communication can delay referrals. Overall, this segment underscores the need for coordinated, timely, and expert-driven pathways to diagnosis and care.