Abstract
Spinal muscular atrophy (SMA) is a genetic, neuromuscular disease that causes progressive muscle weakness. With the recent development of life-extending and function-preserving medications, many pediatric patients are living into adulthood. Transition planning is the process of increasing responsibility of healthcare tasks as one ages. Transfer of care is moving from one care setting to another. Few studies have assessed transition and transfer processes in the adult SMA population, and even fewer studies have assessed the involvement of genetic counselors in this space. This study surveyed 47 adults with SMA about their experience in pediatric and adult care settings. The results suggest that the transfer process from pediatric to adult care is happening, with over 90% of middle and older adult respondents (ages 31+) currently receiving care in an adult setting. However, transfers are reported as unsupported and abrupt. Genetic counselors are largely missing from conversations regarding these processes, as 0% of respondents reported speaking with a genetic counselor about transitions and transfer of care. 75% of respondents were open to discussing reproductive health and family planning at their place of primary SMA care, but only 25% reported having those conversations (p value =0.03). These findings suggest there is a demand for education regarding adult and forward-thinking health topics, and we believe that genetic counselors are a valuable resource for initiating and supporting these conversations in a clinical setting. Keywords: genetic counseling, spinal muscular atrophy, transition planning, transfer of care