Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.

With the advent of novel gene therapies, rare genetic diseases once lacking treatments are now being considered for newborn screening programmes (NBS). Wilson and Jungner criteria (drawn on worldwide to guide screening programme evaluation) necessitate effective interventions for a recommendation of screening. Spinal muscular atrophy (SMA) is an example of a condition for which the case for NBS has rapidly gathered pace in recent years. With the introduction of disease-modifying therapies (that are most efficacious when delivered pre-symptomatically), many countries are now piloting or implementing SMA NBS. Despite this, the acceptability of SMA NBS remains underexplored. To address this gap, surveys and interviews were conducted with four key groups: i) general public, ii) SMA families, iii) parents of screened babies iv) healthcare professionals. Survey responses from 9,511 respondents were analysed: 5,604 from the public, 250 from SMA families, 3,541 from parents and 116 from healthcare professionals. Fifty-three qualitative interviews were conducted with 56 participants: 10 public; 12 SMA parents; 9 adults with SMA; 9 parents of screened babies (including one positive result) and 16 healthcare professionals. Support for SMA NBS was found to be consistently high: 90% of public, 99% of SMA parents and adults, 98% of parents of screened babies and 97% of healthcare professionals supported its national implementation. Concerns centred on the impact of diagnoses through NBS, anxiety and treatment ineligabilty for adult-onset SMA. However, these were not considered barriers. SMA NBS is widely acceptable to relevant stakeholder groups, though rapid, comprehensive and high-quality support for families is essential following diagnosis.