Even though respondents did not know very much about spinal muscular atrophy, the survey showed that most were in favor of newborn screening.
A recent report published in the journal Children affirmed widespread support in Japan for the screening of spinal muscular atrophy (SMA) in newborns.
All told, more than 95% of those surveyed were in favor of screening newborns for SMA. Interestingly, half of the survey’s participants had no existing knowledge of SMA, and more than 90% were unaware of new treatments.
Reasons for support cited included the availability and importance of treatment, especially when emphasis was placed on the importance of early diagnosis leading to more effective patient outcomes.
SMA is an incurable genetic neuromuscular disorder with a range of different phenotypes; the most frequent is type 1, which can prevent an affected newborn from sitting without support within the first 6 months of life, and most of these die before the age of 2 from respiratory failure, or they need mechanical ventilation.
However, new therapies for SMA have been developed that can be used after an early diagnosis; along with supportive care, these represent dramatic improvements: nusinersen (approved in the United States in 2016 and in 2017 in Europe and Japan); onasemnogene abeparvovec (2019 in the United States, 2020 in Japan, the Middle East, and Europe); and risdiplam (2020 in the United States, 2021 in Europe).
The authors note some measure of controversy remains in screening for SMA, and so this the study was needed to acquire more context.
In total, 269 valid responses were acquired through a questionnaire survey given to 2 groups.
The questionnaires described SMA, including symptoms, methods of diagnosis, treatment, and the potential for screening newborns as an option for parents.
The groups were comprised of parents/guardians whose children visited an outpatient allergy clinic between May 2020 and July 2020, and other parents of children who received a medical checkup.
Most respondents were mothers (94.4%) and 30 to 39 years of age (62.5%). Only 2 survey participants had an existing relationship with any SMA patients.
There was some variance in answers regarding costs for SMA screening, depending on whether the testing was free of cost or administered for a reasonable or prohibitive amount. Some respondents did not prefer screening, and expressed anxiety about the test in general or felt it was not needed prior to the expression of symptoms.
In addition, the study queried 8 parents of children with SMA who were treated by nusinersen at Hyogo College of Medicine College Hospital between August 2020 and May 2021. All the parents agreed with newborn screening, with 62.5% saying they would pay for screening at any price, and 37.5% saying they would pay if the price was JPY10,000 (US$91).
The authors said their findings broadly support the idea that SMA screening has approval in Japan, in line or even higher than surveys conducted in other countries. On top of early detection and treatment, surveys have indicated that screening has utility in its ability to enable parental acceptance of the condition even if no effective therapies were available, as well as positively affect pregnancy planning for the future.
Lee T, Tokunaga S, Taniguchi N, et al. Views of the general population on newborn screening for spinal muscular atrophy in Japan. Children. 2021; 8(8):694. doi:10.3390/children