Newborn SMA screening widely supported in U.K. survey
Families, clinicians, and the public cite earlier treatment benefits
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- Newborn screening for SMA was widely supported by families, healthcare professionals, and the public.
- Support was driven by the potential for earlier treatment and better outcomes.
- National rollout would require attention to consent, trust, capacity, and family support.
Newborn screening (NBS) for spinal muscular atrophy (SMA) is widely supported among families whose babies were screened, SMA families and adults living with the disease, healthcare professionals, and the public, according to a large U.K. survey.
The potential for better outcomes for children with SMA was the main reason for this support. Researchers also identified key considerations for national implementation, particularly around consent, trust, workforce capacity, and support for screen-positive families.
Early treatment drives support for SMA screening
“SMA NBS is widely acceptable to relevant stakeholder groups, though rapid, comprehensive and high-quality support for families is essential following diagnosis,” the authors wrote.
Survey findings were detailed in the study, “Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community,” published in the European Journal of Human Genetics.
SMA became a candidate for NBS after the approval of disease-modifying therapies, which have significantly improved outcomes for children with SMA. Still, these treatments work best when started before symptoms appear, which is why early detection through NBS is important.
The first U.K. pilot study of SMA NBS was launched in 2022, and by October 2024, it had screened 29,179 babies across nine sites in England.
In this study, researchers explored the acceptability of SMA NBS among several groups: parents whose babies were screened, families and adults living with SMA, healthcare professionals involved in the pilot study or in SMA care, and the U.K. public. A total of 9,511 survey responses and 53 interviews involving 56 participants were analyzed.
Families, clinicians, public back newborn screening
Support for SMA NBS was high across all groups, with screening endorsed by 98% of screened families, 98.8% of SMA families, 97.4% of healthcare professionals, and 90.4% of public participants. The most common reason for support across all groups was the potential for better outcomes for babies and their families.
Several participants expressed surprise that SMA NBS was not yet routinely offered.
Healthcare professionals expressed frustration that SMA NBS is not yet routinely available, given that effective treatments now exist. They rated increased survival and reduced symptom severity as the most important potential impacts of screening.
For SMA families, the contrast between outcomes in children treated before and after symptoms appeared underscored the value of NBS. The lasting emotional harm experienced by parents who later realize that earlier treatment could have changed their child’s outcome, along with the moral distress reported by medical professionals caring for children who were treated late, were also noted as reasons for supporting NBS.
Another reason for support was the chance to avoid a long and difficult journey to a correct diagnosis.
“… we spent six years of our lives…[…]… knowing that there was [something wrong], …but….being dismissed… [SMA NBS] would’ve taken that away from us,” said Jane, whose son, Adam, has SMA type 3 and was not diagnosed until age 8.
Views differ on screening for later-onset SMA
For later-onset SMA, some healthcare professionals (59%) considered early detection beneficial for future preparedness, though this figure was higher among SMA families (80%) and the public (78%).
SMA families showed high levels of agreement with the perceived benefits of early diagnosis, including monitoring for symptoms (96%), the possibility of future changes to treatment eligibility (96%), avoiding a diagnostic odyssey (97%), and facilitating research (92%).
Public participants were more likely than other groups to raise potential harms of an early adult-onset SMA diagnosis, including the possibility that it could prevent a child from enjoying life while symptom-free (36%), cause missed opportunities (42%), or lead to stigma (36%). Nevertheless, 59% still supported diagnosing adult-onset SMA at birth.
Genetic counselors (86%) and clinical geneticists (70%) were most concerned that an early diagnosis of adult-onset SMA could cause children to grow up feeling different. Clinical geneticists preferred symptomatic diagnosis to avoid anxiety (60%), thought the child should decide whether to receive this information (60%), and supported early diagnosis only if treatments were available (70%).
“This reservation relates to the widely accepted principle of not testing children for adult-onset conditions,” the team noted.
SMA families and healthcare professionals placed high value on SMA NBS as a way to provide reproductive information, both for parents and other family members.
“…If I was told that my child is positive for SMA, I would definitely consider maybe not having any more children… And I think perhaps, like, my brother, if he has a baby, my sister, they may be more inclined to do the testing,” one participant said.
Consent, trust, support key to national rollout
Consent was considered important to NBS implementation, with participants acknowledging that obtaining meaningful informed consent can be challenging, particularly in the postnatal period.
Trust in health services was also identified as important to the success of SMA NBS, with distrust and unfamiliarity with SMA being key reasons for declining participation.
The need for comprehensive support for families of screen-positive babies was emphasized across all groups.
Healthcare professionals also raised concerns about the practical implications of rolling out SMA NBS nationally. This included challenges related to clinic capacity, referral and laboratory pathways, and the need for teams to provide rapid, compassionate support to screen-positive families.
“This study shows that SMA NBS is overwhelmingly supported by all included groups, with improved outcomes for children with SMA being the key driver of support,” the researchers wrote. “Targeted outreach to groups where trust in healthcare systems, genetics and health research is challenged, and further research to explore the perspectives of screening-decliners, is now needed.”
