Acceptability of newborn screening for Spinal Muscular Atrophy: views of the UK public, screened families, health professionals and SMA community

With the advent of novel gene therapies, rare genetic diseases once lacking treatments are now being considered for newborn screening programmes (NBS). Indeed, Wilson and Jungner criteria (which are drawn on worldwide to guide screening programme evaluation) necessitate treatment availability for a recommendation of screening. Spinal muscular atrophy (SMA) is an example of a condition for which the case for NBS has rapidly gathered 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) healthcare professionals, iv) parents of screened babies. Survey responses from 9,511 respondents were analysed: 116 from healthcare professionals, 5,604 from the public, 250 from SMA families and 3,541 from parents. Fifty-three qualitative interviews were conducted with 56 participants: 10 public; 12 SMA parents; 9 adults with SMA; 16 healthcare professionals and 9 parents of screened babies, including one positive result. Support for SMA NBS was found to be consistently high: healthcare professionals (97%), SMA parents and adults (99%), parents of screened babies (98%), and the public (90%) supported its introduction. Concerns centred on the impact of diagnoses through NBS, anxiety and lack of treatment for adult-onset SMA. However, these were not considered barriers. SMA NBS is widely acceptable to relevant stakeholder groups, though rapid, high-quality support for families is essential following diagnosis.