Provider Practice and Patient Clinical Follow‐Up Among Patients With Spinal Muscular Atrophy (SMA) Linked‐Variant

Background The American College of Obstetricians and Gynecologists (ACOG) recommends spinal muscular atrophy (SMA) carrier screening be offered preconception or prenatally. SMA linked‐variant incurs an increased but not absolute risk of being a carrier. Objective To describe the patient population, clinical recommendations, and follow‐up in a cohort with SMA linked‐variant. Study Design This is a retrospective cohort study performed at an urban, academic, tertiary care center of patients with the SMA linked‐variant approximately 2017–2021. Descriptive statistics characterize the patient population, provider recommendations, and patient follow‐up. Results There were 856 patients, majority Black (94.2%), who tested positive for the SMA linked‐variant. There was documentation of result disclosure to patients in only 62.6% of cases. Genetic counseling (88.8%) and partner testing (62.5%) were most often offered. At least one suggested follow‐up was completed by 29.1% of patients, with 162 patients (30.2%) receiving genetic counseling and 61 (11.4%) undergoing partner testing. Conclusion Providers documented disclosure of SMA linked‐variant results in only 2/3 of cases, and patients completed at least some of the offered clinical follow‐up in only 1/3 of cases, both major gaps in care quality. Additional research is needed to understand and improve the suboptimal result review and low rates of patient follow‐up.