Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with typical cognition. The first disease-modulating therapy for SMA, nusinersen (brand name Spinraza®), was approved by the FDA in 2016 and has revolutionized management, leading to recommendations for population-wide carrier screening and newborn screening. However, the effects of this drug on prenatal genetic counseling have not been explored. A survey of 182 prenatal genetic counselors (GCs) assessed current knowledge of nusinersen, access to information, and attitudes towards discussing this therapy in practice. Respondent demographics were consistent with the larger NSGC membership as represented in the 2018 Professional Status Survey. The majority of participants (73.6%) knew “a little bit” or “quite a bit” about nusinersen, while 5.5% reported they had never heard of the drug. At an initial screening visit, 15.4% of counselors were “extremely likely” to discuss nusinersen, increasing to 37.0% with one carrier parent, 67.0% with two carrier parents, and 82.2% in the case of a positive prenatal diagnosis. Participants who were more likely to discuss nusinersen had higher baseline knowledge of the drug (p<.05), worked in a setting with access to SMA specialists (p<.05) or nusinersen (p<.05), and perceived this knowledge as highly important for prenatal GCs (p<.05). Only 4.9% of respondents felt that a prenatal genetic counselor was the most appropriate individual to discuss nusinersen with patients, which was lower than expected since these providers often facilitate SMA carrier screening and prenatal diagnosis. In free text comments, several participants noted that a GC would be appropriate to introduce the topic, but then the patient should be referred to an SMA treatment center or prescribing physician to provide more detailed discussion. However, 41.2% of participants were unsure if SMA specialists/treatment centers were available within their region of practice. Additionally, 45.1% of respondents were not sure if nusinersen was offered in their practice setting. Participants unsure if nusinersen was available were less likely to know where to find reliable information (p<.001, χ2 = 29.1) or to feel confident discussing this treatment with patients (p<.01, χ2 = 25.8). Only 12.1% of respondents felt strongly confident discussing nusinersen with patients, but those who did feel confident reported using this knowledge several times per week. As therapies for SMA continue to evolve, there is a need for updated practice guidelines, accessible education and interdisciplinary communication. With these resources, prenatal GCs can provide balanced information and empower patients to make informed decisions about pregnancy management options.