Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first diseasemodifying therapy for SMA, nusinersen, was approved by the United States Food and Drug Administration (FDA) in 2016 and leads to improved outcomes, especially when administered presymptomatically. Population-wide carrier screening and newborn screening (NBS) are now recommended by several professional organizations to promote reproductive autonomy, early diagnosis, and treatment. Prenatal genetic counselors (GCs) are important providers of the SMA screening and diagnosis process, but the possible impact of nusinersen on their practice has not been explored. A survey of 182 prenatal GCs in the United States (US) assessed baseline knowledge of nusinersen and likelihood of discussing this option with prospective parents. The majority of GCs (94.5%) were aware of this drug, and almost all (87.3%) felt that this information would affect pregnancy management decisions. However, less than half of GCs (49.2%) felt confident discussing nusinersen, 45.1% were unaware if this treatment was available in their practice setting, and one in five (19.3%) did not know where to find information about SMA treatments. Participants were more confident and knowledgeable about NBS for SMA, and several indicated that NBS would reduce their emphasis on carrier screening and diagnostic testing, not recognizing that an early prenatal diagnosis can enable preparations for complex, time-sensitive treatment. Only 5.0% of participants felt that a prenatal GC should discuss nusinersen with prospective parents. However, encouragingly, nearly all GCs who felt confident discussing this treatment option (86.4%) reported using this information weekly in their real-world practice. These data highlight an opportunity to provide up-to-date education about SMA treatments, as well as the significant impacts of early diagnosis. Additionally, interdisciplinary communication and care may be appropriate to clarify healthcare resources available and support a variety of patient needs. Increasing awareness and confidence about available options can help prenatal GCs empower patient autonomy and shared decision-making in the new era of disease-modifying treatment for SMA.

Socioeconomic background affects mortality in Danish children with severe chronic disease

“…This leads to the introduction of ever more highly specialised treatments with the ambition of improving the quality of diagnosis and treatment. 2 , 3 , 4 However, little is known about the influence of socioeconomic factors on mortality and even less is known about the potential benefits of socioeconomic interventions. Previous studies on the association between socioeconomic factors and cancer survival in Danish children highlighted these aspects.…”

“…When it comes to reducing mortality in patients with life‐threatening disease the conventional focus is on healthcare quality. This leads to the introduction of ever more highly specialised treatments with the ambition of improving the quality of diagnosis and treatment 2–4 . However, little is known about the influence of socioeconomic factors on mortality and even less is known about the potential benefits of socioeconomic interventions.…”