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

Acceptability of newborn screening for Spinal Muscular Atrophy: views of the UK public, screened families, health professionals and SMA community | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Acceptability of newborn screening for Spinal Muscular Atrophy: views of the UK public, screened families, health professionals and SMA community Felicity Boardman, Rebecca Howitt, Philip Young, Corinna Clark This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8881933/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 09 Apr, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted 9 You are reading this latest preprint version Abstract 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. Health sciences/Health care/Medical ethics Health sciences/Health care/Health policy Introduction Expanded newborn screening (NBS) is high on political agendas across the world 1 . With the advent of novel therapies for previously untreatable conditions, there is mounting pressure on policymakers to significantly increase the number of conditions screened for in newborns, and to adapt screening programme evaluation to accommodate multi-condition panels 2 – 4 . Understanding the clinical, ethical and social acceptability of NBS for a range of conditions is now critical given that these forms of acceptability are a key criterion against which NBS programmes are evaluated in the UK 5 , and are correlated with uptake. Spinal muscular atrophy (SMA) became a candidate for NBS following the introduction of three novel therapies- Spinraza (Nusinersen), Zolgensma (onasemnogene abeparvovec-xioi) and Risdiplam (Evrysdi)- which can significantly impact children’s outcomes 3 , 6 . However, they all have greatest efficacy when initiated pre-symptomatically 7 , increasing calls for SMA NBS. SMA affects approximately 1 in 6,000–11,000 individuals 8 and is characterised by loss of motor neurones in the brainstem and spinal cord, producing proximal and distal muscle weakness. The most severe and common form (type I/non-sitter, ~ 50% of cases) onsets 18 months) or adolescence (type III/walker), or adulthood (type IV/adult-onset). It is most commonly caused by homozygous deletion or mutation of the SMN1 gene. The number of copies of the SMN2 gene is highly correlated with condition severity, with higher numbers of copies associated with milder phenotypes. The acceptability of SMA NBS has been under-researched despite widespread piloting and implementation across the globe. Moreover, there are ethical debates surrounding SMA NBS, including management of babies with higher (≥ 4) copies of SMN2 given uncertainties around prognosis and treatment eligibility 10 , 11 . Furthermore, concerns around the predictive accuracy of SMN2 copy number have been raised 12 , 13 . Whilst previous pilots have gathered views from healthcare professionals (HCPs) and screened families towards SMA NBS 14 , 15 , only a few studies have explored acceptability in wider stakeholder groups, such as SMA families and the public 16 – 19 . In the UK, previous research (predating the new treatments) demonstrated strong support for SMA NBS amongst SMA families (70% ) 20 and the public (84% ) 21 . Given the dearth of current UK data on SMA NBS acceptability, and the launch of the Thames Valley pilot study (2022–2024), this study explores acceptability amongst diverse groups: the UK public, parents undergoing SMA NBS, HCPs involved in NBS and/or SMA care and families/adults living with SMA. Materials and Methods An explanatory sequential mixed methods design was adopted, with quantitative data (surveys) followed by qualitative interviews (July 2023 – May 2025). All names included have been changed to pseudonyms to protect participants’ anonymity. Patient and Public Involvement (PPIE) A PPIE group guided the study, contributing significantly to designing data collection instruments and an accessible SMA NBS explainer video that was available to survey and interview participants ( https://www.youtube.com/watch?v=hUmqvgA4Jj8&t=3s ). The group comprised an adult with type II (sitter) SMA, a parent of a child with type I (non-sitter), a representative of SMA UK, two public contributors, a data scientist and a paediatric neuromuscular consultant. The group met four times between December 2022-September 2023 with email contact in between. Survey and Topic Guide Development Drawing on our previous surveys 20 – 24 and pilot work, four survey instruments were designed with a core set of questions included across each (to facilitate comparison across groups) as well as bespoke sections relevant to each group’s prior knowledge and experience, of which there was considerable diversity. As part of the comprehensive development process, ‘think aloud’ cognitive interviews were undertaken with five members of the public in order to refine surveys and topic guides and increase their accessibility and sensitivity (June, 2023). Participant Recruitment General public recruited through Qualtrics curated market research panels, targeting a representative UK sample by location, ethnicity, age and gender (July 2023-August 2024). Survey participants were asked to leave contact details for a follow-up interview. Healthcare professionals through professional societies/forums, targeted invites (where email available), and snowball sampling (November 2023-December 2024). Families and adults living with SMA through SMA UK newsletters and networks (October 2023-February 2024). Targeted calls for participants were later made to supplement under-represented groups. Families undergoing SMA NBS through the Thames Valley Pilot Study. Recruiting midwives sought consent to be contacted regarding this study (September 2023 – December 2024). Surveys were sent to parents consenting to be contacted, including an offer of follow-up interview. Where survey participants left their contact details to take part in a follow-up interview, maximum variation sampling was employed to ensure diversity by gender, age, ethnicity and views (support, non-support or ambivalence towards SMA NBS). Interview participants were offered a £20 voucher in recognition of their time. All interviews were conducted remotely (via MS Teams) to enhance inclusivity 25 . Analysis Quantitative data were summarised as total and percentage by response and/or participant group. Differences between groups (e.g. relationship to SMA) were tested using Chi-squared test or Fisher’s Exact test and Cramer’s-V for strength of association (all analyses performed using IBM SPSS 29.0.2.0). Somewhat and strongly agree/disagree responses were combined into agree and disagree to simplify analysis; neutral, don’t know and ‘prefer not to answer’ responses were combined (‘other’ category). Initial ‘broad brush’ coding was employed 26 for the qualitative date (Nvivo20) followed by finer coding, using inductive and deductive techniques 27 . Finer codes were organised into a hierarchical coding framework, with parent and subsidiary codes demarcating themes across transcripts and groups. Qualitative and quantitative data were synthesized using integration techniques including comparison across topics and ‘following a thread’ 28 . Statistical outliers, significant correlations, and seemingly contradictory views were followed up by referencing the qualitative data to gain greater depth of understanding, and viewpoints identified in the qualitative data were cross-referenced against survey data to gain insight into the prevalence of the expressed views across larger social groups. Results In total, 9,511 survey responses and 56 interviews were analysed across participant groups (Table 1, S1-S2). There was a 21.5% response rate from Thames Valley Pilot parents (3,541 surveys completed/ 16,495 sent). Whilst efforts were made to recruit screening decliners, none participated. Participants across all groups overwhelmingly supported SMA NBS − 97.4% of HCPs, 98.8% of SMA families, 98.0% of screened families and 90.4% of public participants confirmed support (Table 2). Compared with other groups, a greater proportion of public participants thought: that SMA NBS could result in parents declining existing NBS (38%) and feeling pressured to have SMA NBS (54%); that parents would be too tired/distracted to make informed decisions (46%) and feel anxious awaiting results (71%); and 78% thought it would be hard for parents to accept an SMA diagnosis pre-symptomatically. Key Reasons for Support Improved outcomes for babies and their families This was overwhelmingly the most common reason for support across all groups, with several participants expressing surprise that SMA NBS is not already routinely offered, I'm surprised that it's even a question, as to whether it should be added to the screening. I think it most definitely should be added. Absolutely. (Israa, mother, public participant ) SMA HCPs, in particular, expressed frustration at the lack of screening despite treatment availability. This was echoed in the quantitative data, with HCPs scoring increasing survival and reducing symptom severity/degree of disability most highly as impacts of NBS (S3). For SMA families, the difference in outcomes between pre-symptomatically and post- symptomatically treated children starkly illustrated the potential value of SMA NBS. Simon, a parent of two children with type II/sitter (Lily, diagnosed symptomatically and treated with Spinraza at age two and Jacob tested at birth and treated asymptomatically at six months with ZolgenSMA) expressed considerable anger and frustration when comparing his children’s abilities (Jacob is meeting milestones, whereas Lily cannot stand unassisted); “From our own experience…. I do feel angry that this isn't screened, because I think, had [Lily] been screened, would she be jumping now? Would she be running now?... it makes me feel, as a parent, like I failed. But I haven't failed… the system’s failed. Because….all of this was preventable.” (Simon, parent to two children with type II/sitter) The impact of significant and enduring emotional harm when parents realise that earlier intervention could have substantially changed their child’s outcome and the ‘moral distress’ 29 described by SMA HCPs caring for ‘late treated’ children, were further reasons for support. Avoidance of diagnostic odyssey Avoiding a protracted journey to diagnosis after symptom onset was another driver of support. Jane, the mother of an adult son, Adam, with type III/walker reflected on how NBS could have dramatically altered their early familial experiences given that Adam was not diagnosed until age eight; … 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 (Jane, parent of Adam with type III/walker) Preventing a later diagnostic odyssey in adulthood for babies with higher SMN2 copy numbers was seen as important for 80% of HCPs and 96% of SMA families. Nathan, who has type III/walker SMA, described the psychological impact of his search for diagnosis (aged nine) as “not a massively healthy mindset” and how he misattributed his symptoms to his actions or environment. Sarah, a member of the public, also noted that NBS might be particularly important for adult-onset forms where symptoms could be attributed to other causes; .. I’m assuming...in the early stages, it may look like other conditions. And that if you weren’t aware that you were gonna develop it, perhaps the diagnostic process might take longer, might involve a lot more invasive testing, because you’d want to rule out other conditions (Sarah, mother, public participant) No additional blood sample needed The screening test being integrated into the bloodspot was raised by both midwives and parents of screened babies as important in acceptability of SMA NBS – differentiating it from other screening studies where additional samples are necessary (e.g. Generation Study 30 ), .... it was a….no-brainer for us just because …the heel prick test has been done anyway and you could use the leftover sample. So, there wasn't anything extra we had to do, there wasn't anything extra the baby had to go through… it was a really easy one to say yes to. (Penny, screening pilot, screen negative) Adult-Onset SMA Although most HCPs considered early detection of possible adult-onset SMA diagnoses (≥ 5 SMN2 copies currently ineligible for treatment) beneficial for preparedness (59%), this was lower than SMA families (80%) and the public (78%) (Table 3). HCPs were intermediate (24%) between SMA families (10%) and the public (40%) as to whether they considered it better to diagnose adults symptomatically rather than through NBS. SMA families showed high levels of agreement with perceived benefits of early diagnosis, including: monitoring for symptoms (96%), future changes to treatments and eligibility (96%), avoidance of diagnostic odysseys (97%) and facilitation of research (92%). Ishaan, now in his 70s (diagnosed with type IV/adult-onset in his 30s), reflected on how an earlier diagnosis might have complicated his reproductive planning; People might think about…. that when you get married..... "What about the children?” “When I have children, what will happen to them?" .... because by the time my condition was diagnosed, I already had two children….I don't know how I would have reacted if I had known before. (Ishaan, type IV/adult-onset) Muireann (aged 64, type IV/adult-onset) emphasised that being able to maximise her abilities before symptoms was central to her support for early diagnosis; ....it would have been good to know. I could have planned a lot more…. I would have run a lot more.... I would have done all these things that I should have been able to, you know, [that] I can't do now...[…] I know the adult onset….won't be offered any medication. But they would know what's gonna happen to them in life, you know, and plan it. (Muireann, type IV/adult-onset) Public participants were more likely than the other groups to consider potential harms from early diagnosis of adult-onset SMA, because: it could prevent the child enjoying life while symptom-free (36%), cause them to miss opportunities (42%) and experience stigma (36%). Nevertheless, 59% still supported its diagnosis at birth. Examples of reasons for this support were evident in the qualitative data, with Eilidh describing it as “the gift of knowledge”, and Israa emphasising the preparation that it enables; it's a cocktail, isn't it? It’s good and bad, because nobody wants that kind of diagnosis, but if you have it, you can prepare for it. You're not in the dark (Israa, mother, public participant) There were significant differences, however, particularly between neuromuscular nurses and genetic counsellors, in the way they weighed the benefits of preparation against possible anxiety (Table 4). Genetic counsellors (86%) and clinical geneticists (70%) both expressed most concern that early diagnosis of adult-onset SMA would lead to children growing up feeling different, an opinion not endorsed by neuromuscular/paediatric nurses (0%). Most clinical geneticists also preferred symptomatic diagnosis to avoid anxiety (60%), thought the child should decide whether to have 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 31 ; ....testing children for adult-onset conditions is not really something that we advocate. It's much better for children to be involved in that decision-making process, if that's what they want to do. (Jane, genetic counsellor) Reproductive information Despite being considered a secondary benefit of NBS 5 , SMA families and HCPs valued SMA NBS for reproductive information (Supplementary S3-S4), both to parents (SMA families 93/100 for importance, HCP 91/100) and wider family (SMA families 94/100, HCP 90/100). …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. (Faiza, screening pilot, screen negative) Considerations for National Implementation of SMA NBS Despite widespread support for SMA NBS, several factors were raised that, whilst not reducing support, pose important considerations for SMA NBS implementation: Consent Appropriate consent was considered pivotal to implementation, although the challenges of this were widely acknowledged, and not specific to SMA. Matilde, a midwife delivering SMA NBS, noted the potential advantages of obtaining consent antenatally as new parents are “so tired” postnatally. Nusrat (public participant) also commented; I've had three kids and I still don't know why we do [the] heel prick test... it just felt like a normal procedure and process that happens... And you just do it. (Nusrat, mother, public participant) Amongst SMA families, although most thought parents would agree to SMA NBS without giving it much thought (96%) (Table 2) only 19% felt new parents were too tired/distracted to make informed decisions. Only 18% thought some parents would feel pressured into SMA NBS, whereas half of SMA family participants thought SMA NBS should be mandatory, compared with 32% of screening pilot parents (48% actively disagreeing) and 28% of HCPs (59% actively disagreeing). Trust Trust was considered important for effective SMA NBS, with distrust and unfamiliarity with SMA key reasons for decline. References to the COVID-19 pandemic (Nusrat, public participant) and infected blood scandal 32 (Genevia, research midwife delivering SMA NBS) were cited as having dented trust in health services and research. Distrust of health services has historically more frequently been observed amongst those from minoritised backgrounds 33 , 34 . However, the low decline rate within the screening pilot and lack of participating decliners make inferences impossible. For Sonia, a senior research midwife, there were no clear patterns in decliner characteristics; It was fairly unpredictable…We had, like, some really young 18-year-olds that we thought ... “unlikely that they'll participate”- yep they were up for it. We had some really well-educated women…two teachers declined it....So that was also a surprise… Of the men declining…[a]quite high proportion of them would be the Asian populations. But the majority it was, like, "Yeah, more than happy. (Sonia, research midwife) An effect of ethnicity was not evident in the survey responses of screening pilot parents with comparable proportions of white/non-white parents reporting that their decision to have SMA NBS was influenced by the fact it was being done as research (33% vs 36%). One participant, who was a Muslim, commented “This is a big part of my faith/beliefs. To actively be involved and contribute to the well-being of others”. This was, however, a self-selecting population who opted to undergo SMA NBS, so may contain more ‘research positive’ parents across all ethnic backgrounds. Within the larger public sample, there was a 6% difference in SMA NBS support between non-white (83%) and white (89%) participants. Multidisciplinary support for screen-positive parents Across all groups, the need for high quality and comprehensive support for screen positive families was emphasised. Of parents participating in SMA NBS, 60% thought it would hard to accept a SMA diagnosis if their baby appeared well. Elizabeth (neuromuscular nurse) also emphasised the challenges of screen-initiated diagnoses, I think we need to really, really carefully consider the psychological impact [of screen-initiated diagnoses] because I think it is going to be a complete shock. And I think we should seek the advice of psychological teams…and really give…these sort of conversations the time that they need and the follow-up care…they need…There’s gonna be a difference because for some [symptomatic] families it can almost be that they’ve got to a point that...they’re half expecting it. (Elizabeth, neuromuscular nurse) The challenges and volume of information needed to rapidly pivot from diagnosis to treatment decision-making were raised by HCPs and SMA families. Despite this, the parents of a baby diagnosed following SMA NBS felt discussion of treatment was comforting in the immediate aftermath of diagnosis; I think it was great that there was a treatment... that really helped psychologically. I think to... help with the news that he could be treated for this. (Jo, parent of child diagnosed with type III/walker through NBS) They also described the importance of compassion in the diagnosis delivery; ... I mean, obviously we were both upset, Jo [wife] was crying by the end of the meeting, [but]…[…]… they told us very sensitively, they've always been very calm, and very reassuring... And, you know, given us lots of information… they respond very quickly if we have any questions. (Andrew, parent of child diagnosed with type III/walker through NBS) Clinical pathway and workforce implications HCPs raised the implications of national SMA NBS for the NHS workforce. Across professions, logistical and skills challenges were acknowledged. Mary (consultant paediatric neurologist) commented; it'll be a challenge, just because you'll get a phone call, and you've got to see that child quickly, and we've got to change conversations. And…we have challenges with clinic room capacity....You've got clinic booked that day ..[...].. I think people will [also] need to have skills for dealing with that situation. But I think that will then become the norm. (Mary, consultant paediatric neurologist) Further logistical concerns included: the need for appropriate referral and lab pathways (particularly AAV9 antibody testing for ZolgenSMA treatment), upskilling the paediatric neurology workforce to holistically manage screen-positive families and ensuring robust communication systems between centres, ... how does our health care infrastructure take a local diagnosis and escalate in a timely manner to… one of the referral centres? I guess that must be difficult to logistically manage. Because…time is really of the essence, isn’t it? (Elizabeth, neuromuscular nurse) Discussion Overall this study, the largest of its kind, demonstrates universally high levels of support for SMA NBS. In response to the statement, ‘I think all babies should be screened for SMA’, nearly every respondent in the SMA family group (99%), HCPs (97%) and screening pilot (98%) cohorts agreed – with most strongly agreeing. For public participants, agreement was 90%, comparable to support elsewhere including Japan (95% support) 17 and Hong Kong (94.6% support) 16 . The significant increase in support from UK SMA families (from 70% in 2017 20 ) and the smaller, but notable, increase amongst the public (from 84% in 2018 21 ) invariably stems from the advent of therapies and widespread evidence (and media coverage) of improved outcomes for early-treated children. Whilst prognostic uncertainty, anxiety and potential stigmatisation of children diagnosed with adult-onset SMA were recognised as possible harms, these were still seen as outweighed by benefits. This study raises significant considerations for national rollout of SMA NBS. Fully informed consent was prioritised by all groups, despite strong views from half of SMA families that SMA NBS should be mandatory. Challenges in gaining informed consent (including the routinisation/proceduralisation of the heel prick test 35 ) were raised, and have prompted calls to shift NBS consent antenatally to enable more effective parental engagement 36 . Levels of screening decline were reportedly low. Distrust of research, genetic testing and screening more broadly, and limited awareness of SMA, were the most common reasons described by screening midwives. Whilst this study was designed to include decliners, in practice there was no uptake. However, the themes identified in the interviews with screening midwives mirror those reported previously 37 . Midwives and screened parents both felt using the same bloodspot sample increased trust and acceptability. The combined qualitative dataset suggested distrust could potentially be higher amongst minoritised groups, reflecting wider trends in screening uptake and refusal 38 . However, further research with minoritised groups is indicated to confirm this and to understand barriers and inequities in SMA NBS access. Another key finding is the importance of high quality, multidisciplinary family-centred support for screen-positive families. There is some limited evidence in the literature parents can experience denial and/or initially refuse treatment following a screen-initiated diagnosis 15 , 39 , 40 , with subsequent symptoms prompting treatment-seeking 39 . The relatively recent approval of SMA treatments 39 , emotional distress 40 , absence of symptoms 15 and religious convictions 39 have all been identified as contributory factors. This wider context contributes to the challenges in treatment decision-making at a point of emotional vulnerability and SMA inexperience 15 , 41 – 43 . Indeed, it has been argued that screen-identified families navigate additional challenges compared to those symptomatically-identified 44 , including concerns around knowing whether treatment is working 15 , 42 . The need for clinicians to adapt to these psychosocial factors was highlighted by participating SMA HCPs, including the need to be responsive to parents’ ‘absorptive capacity’ 45 . This echoes the experience of SMA NBS in Ohio 15 , and Australia 46 , with both studies emphasising the need for compassionate care. Achieving this may involve incremental information delivery, support across the clinical pathway, avenues for parents to ask questions/gather support outside of clinical consultations and collaboration with support/advocacy groups 47 . Further research is indicated to explore the most effective, sensitive and ethically acceptable methods for initial NBS results return (timing, content, mode of delivery) particularly in light of the low false-positive rates and the wealth of outdated information readily accessible to parents online 14 , 43 . This study benefits from a large, diverse dataset, insight from the team’s previous work exploring SMA NBS acceptability 20 , 21 , PPIE input, cognitive interviews and extensive piloting. Such methodology has proved successful in capturing SMA NBS acceptability elsewhere 16 . There are, however, certain limitations to consider. For the public survey, using (incentivised) Qualtrics market research panels to access a large representative population sample can produce non-genuine responses, such as ‘speeders’ who do not read the survey before responding. To mitigate this, extensive vetting tools were employed, in conjunction with ‘attention check’ questions. Our qualitative interviews were high quality, however the lack of participation of decliners is a limitation. Further, as is common for research on screening, female participants were overrepresented, so further research to explore the views of men/fathers is indicated. Finally, only one screen-positive family was identified in the pilot, so further research exploring the experiences of screen-identified SMA families in a UK context is warranted across the spectrum of SMA types. Overall, 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. Robust consent procedures at population level and high-quality, holistic support for screen-positive families were considered important factors for implementation. 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 48 . Declarations Acknowledgments The authors would collectively like to thank the participants who gave up their time to contribute to this study. Also, to our PPIE group who provided us with invaluable insights and feedback over the course of the study. We would also like to dedicate this paper to the memory of Clare Gray, an esteemed, reflective and highly valued member of our PPIE group. Author Contribution Statement FB: project conceptualisation, funding acquisition, data analysis, manuscript writing RH: project conceptualisation, funding acquisition, manuscript writing PY: project conceptualisation, funding acquisition, manuscript preparation CC: project conceptualisation, funding acquisition, data collection and analysis, manuscript writing Ethics Approval for data collection with the public, HCPs and SMA families was granted 18/11/22 by the Biomedical and Scientific Research Ethics Committee, University of Warwick. Approval for data collection with families offered screening through the Thames Valley Pilot Study was granted by the Health Research Authority through NHS REC 21/SC/0394 on 15/8/23. Competing Interests FB sits on the Fetal, Maternal and Child Health Reference Group of the UK National Screening Committee. No other authors have conflicts to declare. References Spiekerkoetter U, Bick D, Scott R, Hopkins H, Krones T, Gross ES et al. Genomic newborn screening: Are we entering a new era of screening? J Inherit Metab Dis 2023; 46 : 778–795. Rankin SM, Marskell L, Hamad L, Machin L. The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening. J Community Genet 2025; 16 : 589–601. Servais L, Dangouloff T, Muntoni F, Scoto M, Baranello G. Spinal muscular atrophy in the UK: the human toll of slow decisions. The Lancet 2025; 405 : 619–620. Genetic Alliance UK. Time to decide: Learning from international approaches to newborn screening decision-making. 2025. https://geneticalliance.org.uk/wp-content/uploads/2025/07/Time-to-decide-Learning-from-international-approaches-newborn-screening-decision-making_Highres-3.pdf (accessed 15 Aug 2025). UK National Screening Committee GU. Criteria for a population screening programme. 2022. https://www.gov.uk/government/publications/evidence-review-criteria-national-screening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screening-programme (accessed 6 Feb 2026). SMA NBS Alliance. White Paper 2024 - Spinal muscular atrophy: Screen at birth, save lives. 2024https://nbs-alliance-assets.gpm.digital/SMA_White_Paper_NBSA_2024_EN_e91bb03c79.pdf (accessed 6 Feb 2026). Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J et al. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy. JAMA Pediatr 2024; 178 : 540. Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK et al. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genetics in Medicine 2020; 22 : 1296–1302. Butterfield RJ. Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency. Semin Pediatr Neurol 2021; 38 : 100899. Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B et al. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? J Neuromuscul Dis 2020; 7 : 109–117. Gerin L, Ropars J, Garcia-Uzquiano R, Gómez-García De la Banda M, Saugier-Veber P, Desguerre I et al. Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population. Neurol Genet 2025; 11 . doi:10.1212/NXG.0000000000200222. Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P et al. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. Neurol Genet 2020; 6 : e530. Tizzano EF, Quijano-Roy S, Servais L, Parsons JA, Aharoni S, Lakhotia A et al. Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. European Journal of Paediatric Neurology 2024; 53 : 18–24. Kariyawasam DST, D’Silva AM, Vetsch J, Wakefield CE, Wiley V, Farrar MA. “We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy. EClinicalMedicine 2021; 33 : 100742. Meyer AP, Connolly AM, Vannatta K, Hacker N, Hatfield A, Decipeda A et al. Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy. J Neuromuscul Dis 2024; 11 : 129–142. Mak CM, Lee JKH, Wong JCL, Law CY, Chan CHT, Yeung CW et al. Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong. Cureus 2025. doi:10.7759/cureus.79190. Lee T, Tokunaga S, Taniguchi N, Fujino T, Saito M, Shimomura H et al. Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan. Children 2021; 8 : 694. Lin P-J, Yeh W-S, Neumann PJ. Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy. Pediatr Neurol 2017; 66 : 69–75. Wood MF, Hughes SC, Hache LP, Naylor EW, Abdel‐Hamid HZ, Barmada MM et al. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve 2014; 49 : 822–828. Boardman FK, Young PJ, Griffiths FE. Newborn screening for spinal muscular atrophy: The views of affected families and adults. Am J Med Genet A 2017; 173 : 1546–1561. Boardman FK, Sadler C, Young PJ. Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. Mol Genet Genomic Med 2018; 6 : 99–108. Boardman FK, Hale R, Gohel R, Young PJ. Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening. Mol Genet Genomic Med 2019; 7 . doi:10.1002/mgg3.618. Boardman FK, Clark C, Jungkurth E, Young PJ. Social and cultural influences on genetic screening programme acceptability: A mixed‐methods study of the views of adults, carriers, and family members living with thalassemia in the UK. J Genet Couns 2020; 29 : 1026–1040. Boardman FK, Clark CC. What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions. European Journal of Human Genetics 2022; 30 : 160–169. Boardman F, Roberts J, Clark C, Onuegbu C, Harris B, Seers K et al. Qualitative Remote Data Collection Guidance 2024. Coventry, 2024 doi:10.31273/9781911675174. Saldaña Johnny. The coding manual for qualitative researchers . 2nd ed. SAGE Publications: London, 2013. Fereday J, Muir-Cochrane E. Demonstrating Rigor Using Thematic Analysis: A Hybrid Approach of Inductive and Deductive Coding and Theme Development. Int J Qual Methods 2006; 5 : 80–92. Moran-Ellis J, Alexander VD, Cronin A, Dickinson M, Fielding J, Sleney J et al. Triangulation and integration: processes, claims and implications. Qualitative Research 2006; 6 : 45–59. Epstein EG, Hamric AB. Moral distress, moral residue, and the crescendo effect. J Clin Ethics 2009; 20 : 330–42. Genomics England. The Generation Study Protocol v3.0. 2023 https://files.genomicsengland.co.uk/documents/Newborns/Generation-Study-Protocol_nc.pdf (accessed 6 Feb 2026). Caga-anan ECF, Smith L, Sharp RR, Lantos JD. Testing Children for Adult-Onset Genetic Diseases. Pediatrics 2012; 129 : 163–167. Collyer Merritt E. Infected blood scandal: Background, impacts, inquiry outcomes and compensation. UK Parliament, House of Lords Library. 2024.https://lordslibrary.parliament.uk/infected-blood-scandal-background-impacts-interim-compensation-and-inquiry-outcomes/ (accessed 6 Feb 2026). Powell W, Richmond J, Mohottige D, Yen I, Joslyn A, Corbie-Smith G. Medical Mistrust, Racism, and Delays in Preventive Health Screening Among African-American Men. Behavioral Medicine 2019; 45 : 102–117. Hong QN, Pluye P, Fàbregues S, Bartlett G, Boardman F, Cargo M et al. VP26 A Critical Appraisal Tool For Systematic Mixed Studies Reviews. Int J Technol Assess Health Care 2018; 34 : 166–166. Nicholls SG. Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening. J Med Ethics 2012; 38 : 299–303. Klapwijk JE, Gitsels-van der Wal J, Martin L, Verschoof-Puite RK, Elsinghorst E, Henneman L. Maternity Care Providers’ Experiences with Providing Information on Newborn Bloodspot Screening During Pregnancy: A Dutch Survey Study. Int J Neonatal Screen 2025; 11 : 5. Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genetics in Medicine 2018; 20 : 608–613. Office for Health Improvement & Disparities. Population screening: review of interventions to improve participation among underserved groups. 2022 https://www.gov.uk/government/publications/population-screening-improving-participation-in-underserved-groups/population-screening-review-of-interventions-to-improve-participation-among-underserved-groups (accessed 14 Aug 2025). Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis 2021; 16 : 153. Boemer F, Caberg J-H, Beckers P, Dideberg V, di Fiore S, Bours V et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci Rep 2021; 11 : 19922. Sandelowsky SA, McEwen A, Russell J, Boggs K, Junek R, Ellaway C et al. An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening. Int J Neonatal Screen 2025; 11 : 32. Leach M, Finanger E, Izumi S. 155P The experience of parents as they make treatment decisions for their child with spinal muscular atrophy and the factors that influence these decisions: a narrative review. In: Neuromuscular Disorders . 2024, p 104441.590. Boursange S, Araneda M, Stalens C, Desguerre I, Barnerias C, Nougues M-C et al. Parents’ dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. Front Pediatr 2022; 10 . doi:10.3389/fped.2022.1062390. Breeze AA. Comparing Psychosocial Impacts of Spinal Muscular Atrophy Diagnoses Before and After Newborn Screening Implementation. University of Pittsburgh ProQuest Dissertations & Theses , 2023; 30612852 White AL, Boardman F, McNiven A, Locock L, Hinton L. Absorbing it all: A meta-ethnography of parents’ unfolding experiences of newborn screening. Soc Sci Med 2021; 287 : 114367. Kariyawasam D, Russell JS, Wiley V, Alexander IE, Farrar MA. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Genetics in Medicine 2020; 22 : 557–565. Cooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J et al. Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy. Int J Neonatal Screen 2024; 10 : 49. Harcombe J. SMA Screening ISE partnership board updated on NIHR research call. UK National Screening Committee, GOV UK. 2025. https://nationalscreening.blog.gov.uk/2025/06/10/sma-screening-ise-partnership-board-updated-on-nihr-research-call/ (accessed 6 Feb2026). Tables Tables 1 to 4 are available in the supplementary files section Additional Declarations There is no duality of interest Supplementary Files EJHGAcceptabilitySMASupplementaryTablesFINAL.docx Supplementary tables EJHGAcceptabilitySMATables080226FINAL.docx Tables Cite Share Download PDF Status: Published Journal Publication published 09 Apr, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted Editorial decision: revise 16 Mar, 2026 Review # 2 received at journal 11 Mar, 2026 Reviewer # 2 agreed at journal 10 Mar, 2026 Review # 1 received at journal 25 Feb, 2026 Reviewer # 1 agreed at journal 17 Feb, 2026 Reviewers invited by journal 17 Feb, 2026 Submission checks completed at journal 16 Feb, 2026 Editor assigned by journal 14 Feb, 2026 First submitted to journal 14 Feb, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8881933","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":592798096,"identity":"5b72faa8-bc57-4f9a-84b5-49bfa374c88f","order_by":0,"name":"Felicity Boardman","email":"data:image/png;base64,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","orcid":"https://orcid.org/0000-0002-3268-6276","institution":"University of Warwick, Medical School","correspondingAuthor":true,"prefix":"","firstName":"Felicity","middleName":"","lastName":"Boardman","suffix":""},{"id":592798097,"identity":"46e92398-d8e7-41a8-bf2c-e6f8b97529e3","order_by":1,"name":"Rebecca Howitt","email":"","orcid":"","institution":"University of Oxford","correspondingAuthor":false,"prefix":"","firstName":"Rebecca","middleName":"","lastName":"Howitt","suffix":""},{"id":592798098,"identity":"b4243167-276f-4ec7-aabc-564be94cfbec","order_by":2,"name":"Philip Young","email":"","orcid":"","institution":"","correspondingAuthor":false,"prefix":"","firstName":"Philip","middleName":"","lastName":"Young","suffix":""},{"id":592798099,"identity":"84cd67a5-6250-4a0e-870d-90a6974c054f","order_by":3,"name":"Corinna Clark","email":"","orcid":"https://orcid.org/0000-0002-1077-9383","institution":"University of Warwick, Medical School","correspondingAuthor":false,"prefix":"","firstName":"Corinna","middleName":"","lastName":"Clark","suffix":""}],"badges":[],"createdAt":"2026-02-14 18:20:07","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-8881933/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8881933/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1038/s41431-026-02096-9","type":"published","date":"2026-04-09T04:00:00+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":106583819,"identity":"5e5b7e08-993e-4329-b9f1-fcada96c1caa","added_by":"auto","created_at":"2026-04-10 07:12:30","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":765227,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8881933/v1/7afbc5fe-b9ac-4eb1-a621-4ae89805ef58.pdf"},{"id":103211882,"identity":"d050045f-9917-4d49-b9a2-eb199200eb95","added_by":"auto","created_at":"2026-02-23 08:44:39","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":76925,"visible":true,"origin":"","legend":"Supplementary tables","description":"","filename":"EJHGAcceptabilitySMASupplementaryTablesFINAL.docx","url":"https://assets-eu.researchsquare.com/files/rs-8881933/v1/79bd1630c1a15b5f862624eb.docx"},{"id":103211881,"identity":"d3c38c73-4013-4861-84df-5f11b9fe4d1e","added_by":"auto","created_at":"2026-02-23 08:44:39","extension":"docx","order_by":2,"title":"","display":"","copyAsset":false,"role":"supplement","size":75380,"visible":true,"origin":"","legend":"Tables","description":"","filename":"EJHGAcceptabilitySMATables080226FINAL.docx","url":"https://assets-eu.researchsquare.com/files/rs-8881933/v1/c260a80809418d289cc68ed5.docx"}],"financialInterests":"There is no duality of interest","formattedTitle":"Acceptability of newborn screening for Spinal Muscular Atrophy: views of the UK public, screened families, health professionals and SMA community","fulltext":[{"header":"Introduction","content":"\u003cp\u003eExpanded newborn screening (NBS) is high on political agendas across the world\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/sup\u003e. With the advent of novel therapies for previously untreatable conditions, there is mounting pressure on policymakers to significantly increase the number of conditions screened for in newborns, and to adapt screening programme evaluation to accommodate multi-condition panels\u003csup\u003e\u003cspan additionalcitationids=\"CR3\" citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/sup\u003e. Understanding the clinical, ethical and social acceptability of NBS for a range of conditions is now critical given that these forms of acceptability are a key criterion against which NBS programmes are evaluated in the UK\u003csup\u003e5\u003c/sup\u003e, and are correlated with uptake.\u003c/p\u003e \u003cp\u003eSpinal muscular atrophy (SMA) became a candidate for NBS following the introduction of three novel therapies- Spinraza (Nusinersen), Zolgensma (onasemnogene abeparvovec-xioi) and Risdiplam (Evrysdi)- which can significantly impact children\u0026rsquo;s outcomes\u003csup\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e,\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e. However, they all have greatest efficacy when initiated pre-symptomatically\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e, increasing calls for SMA NBS.\u003c/p\u003e \u003cp\u003eSMA affects approximately 1 in 6,000\u0026ndash;11,000 individuals\u003csup\u003e\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/sup\u003e and is characterised by loss of motor neurones in the brainstem and spinal cord, producing proximal and distal muscle weakness. The most severe and common form (type I/non-sitter, ~\u0026thinsp;50% of cases) onsets\u0026thinsp;\u0026lt;\u0026thinsp;6 months of age and is early fatal if untreated\u003csup\u003e\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u003c/sup\u003e. SMA can also start in early childhood (6\u0026ndash;18 months, type II/sitter), later in childhood (\u0026gt;\u0026thinsp;18 months) or adolescence (type III/walker), or adulthood (type IV/adult-onset). It is most commonly caused by homozygous deletion or mutation of the \u003cem\u003eSMN1\u003c/em\u003e gene. The number of copies of the \u003cem\u003eSMN2\u003c/em\u003e gene is highly correlated with condition severity, with higher numbers of copies associated with milder phenotypes.\u003c/p\u003e \u003cp\u003eThe acceptability of SMA NBS has been under-researched despite widespread piloting and implementation across the globe. Moreover, there are ethical debates surrounding SMA NBS, including management of babies with higher (\u0026ge;\u0026thinsp;4) copies of \u003cem\u003eSMN2\u003c/em\u003e given uncertainties around prognosis and treatment eligibility\u003csup\u003e\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e,\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e\u003c/sup\u003e. Furthermore, concerns around the predictive accuracy of \u003cem\u003eSMN2\u003c/em\u003e copy number have been raised\u003csup\u003e\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e,\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eWhilst previous pilots have gathered views from healthcare professionals (HCPs) and screened families towards SMA NBS\u003csup\u003e\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e,\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e, only a few studies have explored acceptability in wider stakeholder groups, such as SMA families and the public\u003csup\u003e\u003cspan additionalcitationids=\"CR17 CR18\" citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e. In the UK, previous research (predating the new treatments) demonstrated strong support for SMA NBS amongst SMA families (70% )\u003csup\u003e20\u003c/sup\u003e and the public (84% )\u003csup\u003e21\u003c/sup\u003e. Given the dearth of current UK data on SMA NBS acceptability, and the launch of the Thames Valley pilot study (2022\u0026ndash;2024), this study explores acceptability amongst diverse groups: the UK public, parents undergoing SMA NBS, HCPs involved in NBS and/or SMA care and families/adults living with SMA.\u003c/p\u003e"},{"header":"Materials and Methods","content":"\u003cp\u003eAn explanatory sequential mixed methods design was adopted, with quantitative data (surveys) followed by qualitative interviews (July 2023 \u0026ndash; May 2025). All names included have been changed to pseudonyms to protect participants\u0026rsquo; anonymity.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003ePatient and Public Involvement (PPIE)\u003c/h2\u003e \u003cp\u003eA PPIE group guided the study, contributing significantly to designing data collection instruments and an accessible SMA NBS explainer video that was available to survey and interview participants (\u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www.youtube.com/watch?v=hUmqvgA4Jj8\u0026amp;t=3s\u003c/span\u003e\u003cspan address=\"https://www.youtube.com/watch?v=hUmqvgA4Jj8\u0026amp;t=3s\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe group comprised an adult with type II (sitter) SMA, a parent of a child with type I (non-sitter), a representative of SMA UK, two public contributors, a data scientist and a paediatric neuromuscular consultant. The group met four times between December 2022-September 2023 with email contact in between.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003eSurvey and Topic Guide Development\u003c/h3\u003e\n\u003cp\u003eDrawing on our previous surveys\u003csup\u003e\u003cspan additionalcitationids=\"CR21 CR22 CR23\" citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e\u003c/sup\u003e and pilot work, four survey instruments were designed with a core set of questions included across each (to facilitate comparison across groups) as well as bespoke sections relevant to each group\u0026rsquo;s prior knowledge and experience, of which there was considerable diversity. As part of the comprehensive development process, \u0026lsquo;think aloud\u0026rsquo; cognitive interviews were undertaken with five members of the public in order to refine surveys and topic guides and increase their accessibility and sensitivity (June, 2023).\u003c/p\u003e\n\u003ch3\u003eParticipant Recruitment\u003c/h3\u003e\n\u003cp\u003e \u003cstrong\u003eGeneral public\u003c/strong\u003e \u003cp\u003erecruited through Qualtrics curated market research panels, targeting a representative UK sample by location, ethnicity, age and gender (July 2023-August 2024). Survey participants were asked to leave contact details for a follow-up interview.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eHealthcare professionals\u003c/strong\u003e \u003cp\u003ethrough professional societies/forums, targeted invites (where email available), and snowball sampling (November 2023-December 2024).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eFamilies and adults living with SMA\u003c/strong\u003e \u003cp\u003ethrough SMA UK newsletters and networks (October 2023-February 2024). Targeted calls for participants were later made to supplement under-represented groups.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eFamilies undergoing SMA NBS\u003c/strong\u003e \u003cp\u003ethrough the Thames Valley Pilot Study. Recruiting midwives sought consent to be contacted regarding this study (September 2023 \u0026ndash; December 2024). Surveys were sent to parents consenting to be contacted, including an offer of follow-up interview.\u003c/p\u003e \u003c/p\u003e \u003cp\u003eWhere survey participants left their contact details to take part in a follow-up interview, maximum variation sampling was employed to ensure diversity by gender, age, ethnicity and views (support, non-support or ambivalence towards SMA NBS). Interview participants were offered a \u0026pound;20 voucher in recognition of their time. All interviews were conducted remotely (via MS Teams) to enhance inclusivity\u003csup\u003e\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e\n\u003ch3\u003eAnalysis\u003c/h3\u003e\n\u003cp\u003eQuantitative data were summarised as total and percentage by response and/or participant group. Differences between groups (e.g. relationship to SMA) were tested using Chi-squared test or Fisher\u0026rsquo;s Exact test and Cramer\u0026rsquo;s-V for strength of association (all analyses performed using IBM SPSS 29.0.2.0). Somewhat and strongly agree/disagree responses were combined into agree and disagree to simplify analysis; neutral, don\u0026rsquo;t know and \u0026lsquo;prefer not to answer\u0026rsquo; responses were combined (\u0026lsquo;other\u0026rsquo; category).\u003c/p\u003e \u003cp\u003eInitial \u0026lsquo;broad brush\u0026rsquo; coding was employed\u003csup\u003e\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e\u003c/sup\u003e for the qualitative date (Nvivo20) followed by finer coding, using inductive and deductive techniques\u003csup\u003e\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e\u003c/sup\u003e. Finer codes were organised into a hierarchical coding framework, with parent and subsidiary codes demarcating themes across transcripts and groups.\u003c/p\u003e \u003cp\u003eQualitative and quantitative data were synthesized using integration techniques including comparison across topics and \u0026lsquo;following a thread\u0026rsquo; \u003csup\u003e28\u003c/sup\u003e. Statistical outliers, significant correlations, and seemingly contradictory views were followed up by referencing the qualitative data to gain greater depth of understanding, and viewpoints identified in the qualitative data were cross-referenced against survey data to gain insight into the prevalence of the expressed views across larger social groups.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003eIn total, 9,511 survey responses and 56 interviews were analysed across participant groups (Table\u0026nbsp;1, S1-S2). There was a 21.5% response rate from Thames Valley Pilot parents (3,541 surveys completed/ 16,495 sent). Whilst efforts were made to recruit screening decliners, none participated.\u003c/p\u003e \u003cp\u003eParticipants across all groups overwhelmingly supported SMA NBS\u0026thinsp;\u0026minus;\u0026thinsp;97.4% of HCPs, 98.8% of SMA families, 98.0% of screened families and 90.4% of public participants confirmed support (Table\u0026nbsp;2).\u003c/p\u003e \u003cp\u003e Compared with other groups, a greater proportion of public participants thought: that SMA NBS could result in parents declining existing NBS (38%) and feeling pressured to have SMA NBS (54%); that parents would be too tired/distracted to make informed decisions (46%) and feel anxious awaiting results (71%); and 78% thought it would be hard for parents to accept an SMA diagnosis pre-symptomatically.\u003c/p\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eKey Reasons for Support\u003c/h2\u003e \u003cdiv id=\"Sec9\" class=\"Section3\"\u003e \u003ch2\u003eImproved outcomes for babies and their families\u003c/h2\u003e \u003cp\u003eThis was overwhelmingly the most common reason for support across all groups, with several participants expressing surprise that SMA NBS is not already routinely offered,\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eI'm surprised that it's even a question, as to whether it should be added to the screening. I think it most definitely should be added. Absolutely.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Israa, mother, public participant )\u003c/p\u003e \u003cp\u003eSMA HCPs, in particular, expressed frustration at the lack of screening despite treatment availability. This was echoed in the quantitative data, with HCPs scoring increasing survival and reducing symptom severity/degree of disability most highly as impacts of NBS (S3).\u003c/p\u003e \u003cp\u003eFor SMA families, the difference in outcomes between pre-symptomatically and post- symptomatically treated children starkly illustrated the potential value of SMA NBS. Simon, a parent of two children with type II/sitter (Lily, diagnosed symptomatically and treated with Spinraza at age two and Jacob tested at birth and treated asymptomatically at six months with ZolgenSMA) expressed considerable anger and frustration when comparing his children\u0026rsquo;s abilities (Jacob is meeting milestones, whereas Lily cannot stand unassisted);\u003c/p\u003e \u003cp\u003e\u0026ldquo;From our own experience\u0026hellip;. I do feel angry that this isn't screened, because I think, had [Lily] been screened, would she be jumping now? Would she be running now?... it makes me feel, as a parent, like I failed. But I haven't failed\u0026hellip; the system\u0026rsquo;s failed. Because\u0026hellip;.all of this was preventable.\u0026rdquo;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e(Simon, parent to two children with type II/sitter)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eThe impact of significant and enduring emotional harm when parents realise that earlier intervention could have substantially changed their child\u0026rsquo;s outcome and the \u0026lsquo;moral distress\u0026rsquo;\u003csup\u003e29\u003c/sup\u003e described by SMA HCPs caring for \u0026lsquo;late treated\u0026rsquo; children, were further reasons for support.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e\n\u003ch3\u003eAvoidance of diagnostic odyssey\u003c/h3\u003e\n\u003cp\u003eAvoiding a protracted journey to diagnosis after symptom onset was another driver of support. Jane, the mother of an adult son, Adam, with type III/walker reflected on how NBS could have dramatically altered their early familial experiences given that Adam was not diagnosed until age eight;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u0026hellip; we spent six years of our lives...[...]... knowing that there was [something wrong], \u0026hellip;but\u0026hellip;.being dismissed\u0026hellip; [SMA NBS] would\u0026rsquo;ve taken that away from us\u003c/p\u003e\u003cp\u003e(Jane, parent of Adam with type III/walker)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003ePreventing a later diagnostic odyssey in adulthood for babies with higher \u003cem\u003eSMN2\u003c/em\u003e copy numbers was seen as important for 80% of HCPs and 96% of SMA families. Nathan, who has type III/walker SMA, described the psychological impact of his search for diagnosis (aged nine) as \u0026ldquo;not a massively healthy mindset\u0026rdquo; and how he misattributed his symptoms to his actions or environment. Sarah, a member of the public, also noted that NBS might be particularly important for adult-onset forms where symptoms could be attributed to other causes;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e.. I\u0026rsquo;m assuming...in the early stages, it may look like other conditions. And that if you weren\u0026rsquo;t aware that you were gonna develop it, perhaps the diagnostic process might take longer, might involve a lot more invasive testing, because you\u0026rsquo;d want to rule out other conditions\u003c/p\u003e\u003cp\u003e(Sarah, mother, public participant)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003eNo additional blood sample needed\u003c/h2\u003e \u003cp\u003eThe screening test being integrated into the bloodspot was raised by both midwives and parents of screened babies as important in acceptability of SMA NBS \u0026ndash; differentiating it from other screening studies where additional samples are necessary (e.g. Generation Study\u003csup\u003e\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e\u003c/sup\u003e),\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e.... it was a\u0026hellip;.no-brainer for us just because \u0026hellip;the heel prick test has been done anyway and you could use the leftover sample. So, there wasn't anything extra we had to do, there wasn't anything extra the baby had to go through\u0026hellip; it was a really easy one to say yes to.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Penny, screening pilot, screen negative)\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003eAdult-Onset SMA\u003c/h2\u003e \u003cp\u003eAlthough most HCPs considered early detection of possible adult-onset SMA diagnoses (\u0026ge;\u0026thinsp;5 \u003cem\u003eSMN2\u003c/em\u003e copies currently ineligible for treatment) beneficial for preparedness (59%), this was lower than SMA families (80%) and the public (78%) (Table\u0026nbsp;3). HCPs were intermediate (24%) between SMA families (10%) and the public (40%) as to whether they considered it better to diagnose adults symptomatically rather than through NBS. SMA families showed high levels of agreement with perceived benefits of early diagnosis, including: monitoring for symptoms (96%), future changes to treatments and eligibility (96%), avoidance of diagnostic odysseys (97%) and facilitation of research (92%). Ishaan, now in his 70s (diagnosed with type IV/adult-onset in his 30s), reflected on how an earlier diagnosis might have complicated his reproductive planning;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003ePeople might think about\u0026hellip;. that when you get married..... \"What about the children?\u0026rdquo; \u0026ldquo;When I have children, what will happen to them?\" .... because by the time my condition was diagnosed, I already had two children\u0026hellip;.I don't know how I would have reacted if I had known before.\u003c/p\u003e\u003cp\u003e(Ishaan, type IV/adult-onset)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eMuireann (aged 64, type IV/adult-onset) emphasised that being able to maximise her abilities before symptoms was central to her support for early diagnosis;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e....it would have been good to know. I could have planned a lot more\u0026hellip;. I would have run a lot more.... I would have done all these things that I should have been able to, you know, [that] I can't do now...[\u0026hellip;] I know the adult onset\u0026hellip;.won't be offered any medication. But they would know what's gonna happen to them in life, you know, and plan it.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Muireann, type IV/adult-onset)\u003c/p\u003e \u003cp\u003e Public participants were more likely than the other groups to consider potential harms from early diagnosis of adult-onset SMA, because: it could prevent the child enjoying life while symptom-free (36%), cause them to miss opportunities (42%) and experience stigma (36%). Nevertheless, 59% still supported its diagnosis at birth. Examples of reasons for this support were evident in the qualitative data, with Eilidh describing it as \u0026ldquo;the gift of knowledge\u0026rdquo;, and Israa emphasising the preparation that it enables;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eit's a cocktail, isn't it? It\u0026rsquo;s good and bad, because nobody wants that kind of diagnosis, but if you have it, you can prepare for it. You're not in the dark\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Israa, mother, public participant)\u003c/p\u003e \u003cp\u003eThere were significant differences, however, particularly between neuromuscular nurses and genetic counsellors, in the way they weighed the benefits of preparation against possible anxiety (Table\u0026nbsp;4). Genetic counsellors (86%) and clinical geneticists (70%) both expressed most concern that early diagnosis of adult-onset SMA would lead to children growing up feeling different, an opinion not endorsed by neuromuscular/paediatric nurses (0%). Most clinical geneticists also preferred symptomatic diagnosis to avoid anxiety (60%), thought the child should decide whether to have 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\u003csup\u003e\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e\u003c/sup\u003e;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e....testing children for adult-onset conditions is not really something that we advocate. It's much better for children to be involved in that decision-making process, if that's what they want to do.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Jane, genetic counsellor)\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eReproductive information\u003c/h2\u003e \u003cp\u003eDespite being considered a secondary benefit of NBS \u003csup\u003e\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/sup\u003e, SMA families and HCPs valued SMA NBS for reproductive information (Supplementary S3-S4), both to parents (SMA families 93/100 for importance, HCP 91/100) and wider family (SMA families 94/100, HCP 90/100).\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u0026hellip;if I was told that my child is positive for SMA, I would definitely consider maybe not having any more children\u0026hellip;.And I think perhaps, like, my brother, if he has a baby, my sister, they may be more inclined to do the testing.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Faiza, screening pilot, screen negative)\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec14\" class=\"Section2\"\u003e \u003ch2\u003eConsiderations for National Implementation of SMA NBS\u003c/h2\u003e \u003cp\u003eDespite widespread support for SMA NBS, several factors were raised that, whilst not reducing support, pose important considerations for SMA NBS implementation:\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec15\" class=\"Section2\"\u003e \u003ch2\u003eConsent\u003c/h2\u003e \u003cp\u003eAppropriate consent was considered pivotal to implementation, although the challenges of this were widely acknowledged, and not specific to SMA. Matilde, a midwife delivering SMA NBS, noted the potential advantages of obtaining consent antenatally as new parents are \u0026ldquo;so tired\u0026rdquo; postnatally. Nusrat (public participant) also commented;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eI've had three kids and I still don't know why we do [the] heel prick test... it just felt like a normal procedure and process that happens... And you just do it.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Nusrat, mother, public participant)\u003c/p\u003e \u003cp\u003e Amongst SMA families, although most thought parents would agree to SMA NBS without giving it much thought (96%) (Table\u0026nbsp;2) only 19% felt new parents were too tired/distracted to make informed decisions. Only 18% thought some parents would feel pressured into SMA NBS, whereas half of SMA family participants thought SMA NBS should be mandatory, compared with 32% of screening pilot parents (48% actively disagreeing) and 28% of HCPs (59% actively disagreeing).\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec16\" class=\"Section2\"\u003e \u003ch2\u003eTrust\u003c/h2\u003e \u003cp\u003eTrust was considered important for effective SMA NBS, with distrust and unfamiliarity with SMA key reasons for decline. References to the COVID-19 pandemic (Nusrat, public participant) and infected blood scandal\u003csup\u003e\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e\u003c/sup\u003e (Genevia, research midwife delivering SMA NBS) were cited as having dented trust in health services and research.\u003c/p\u003e \u003cp\u003eDistrust of health services has historically more frequently been observed amongst those from minoritised backgrounds\u003csup\u003e\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e,\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e\u003c/sup\u003e. However, the low decline rate within the screening pilot and lack of participating decliners make inferences impossible. For Sonia, a senior research midwife, there were no clear patterns in decliner characteristics;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eIt was fairly unpredictable\u0026hellip;We had, like, some really young 18-year-olds that we thought ... \u0026ldquo;unlikely that they'll participate\u0026rdquo;- yep they were up for it. We had some really well-educated women\u0026hellip;two teachers declined it....So that was also a surprise\u0026hellip; Of the men declining\u0026hellip;[a]quite high proportion of them would be the Asian populations. But the majority it was, like, \"Yeah, more than happy.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Sonia, research midwife)\u003c/p\u003e \u003cp\u003eAn effect of ethnicity was not evident in the survey responses of screening pilot parents with comparable proportions of white/non-white parents reporting that their decision to have SMA NBS was influenced by the fact it was being done as research (33% vs 36%). One participant, who was a Muslim, commented \u0026ldquo;This is a big part of my faith/beliefs. To actively be involved and contribute to the well-being of others\u0026rdquo;. This was, however, a self-selecting population who opted to undergo SMA NBS, so may contain more \u0026lsquo;research positive\u0026rsquo; parents across all ethnic backgrounds. Within the larger public sample, there was a 6% difference in SMA NBS support between non-white (83%) and white (89%) participants.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec17\" class=\"Section2\"\u003e \u003ch2\u003eMultidisciplinary support for screen-positive parents\u003c/h2\u003e \u003cp\u003eAcross all groups, the need for high quality and comprehensive support for screen positive families was emphasised. Of parents participating in SMA NBS, 60% thought it would hard to accept a SMA diagnosis if their baby appeared well. Elizabeth (neuromuscular nurse) also emphasised the challenges of screen-initiated diagnoses,\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eI think we need to really, really carefully consider the psychological impact [of screen-initiated diagnoses] because I think it is going to be a complete shock. And I think we should seek the advice of psychological teams\u0026hellip;and really give\u0026hellip;these sort of conversations the time that they need and the follow-up care\u0026hellip;they need\u0026hellip;There\u0026rsquo;s gonna be a difference because for some [symptomatic] families it can almost be that they\u0026rsquo;ve got to a point that...they\u0026rsquo;re half expecting it.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Elizabeth, neuromuscular nurse)\u003c/p\u003e \u003cp\u003eThe challenges and volume of information needed to rapidly pivot from diagnosis to treatment decision-making were raised by HCPs and SMA families. Despite this, the parents of a baby diagnosed following SMA NBS felt discussion of treatment was comforting in the immediate aftermath of diagnosis;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eI think it was great that there was a treatment... that really helped psychologically. I think to... help with the news that he could be treated for this.\u003c/p\u003e\u003cp\u003e(Jo, parent of child diagnosed with type III/walker through NBS)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eThey also described the importance of compassion in the diagnosis delivery;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e... I mean, obviously we were both upset, Jo [wife] was crying by the end of the meeting, [but]\u0026hellip;[\u0026hellip;]\u0026hellip; they told us very sensitively, they've always been very calm, and very reassuring... And, you know, given us lots of information\u0026hellip; they respond very quickly if we have any questions.\u003c/p\u003e\u003cp\u003e(Andrew, parent of child diagnosed with type III/walker through NBS)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec18\" class=\"Section2\"\u003e \u003ch2\u003eClinical pathway and workforce implications\u003c/h2\u003e \u003cp\u003eHCPs raised the implications of national SMA NBS for the NHS workforce. Across professions, logistical and skills challenges were acknowledged. Mary (consultant paediatric neurologist) commented;\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003eit'll be a challenge, just because you'll get a phone call, and you've got to see that child quickly, and we've got to change conversations. And\u0026hellip;we have challenges with clinic room capacity....You've got clinic booked that day ..[...].. I think people will [also] need to have skills for dealing with that situation. But I think that will then become the norm.\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Mary, consultant paediatric neurologist)\u003c/p\u003e \u003cp\u003eFurther logistical concerns included: the need for appropriate referral and lab pathways (particularly AAV9 antibody testing for ZolgenSMA treatment), upskilling the paediatric neurology workforce to holistically manage screen-positive families and ensuring robust communication systems between centres,\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e... how does our health care infrastructure take a local diagnosis and escalate in a timely manner to\u0026hellip; one of the referral centres? I guess that must be difficult to logistically manage. Because\u0026hellip;time is really of the essence, isn\u0026rsquo;t it?\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e(Elizabeth, neuromuscular nurse)\u003c/p\u003e \u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eOverall this study, the largest of its kind, demonstrates universally high levels of support for SMA NBS. In response to the statement, \u0026lsquo;I think all babies should be screened for SMA\u0026rsquo;, nearly every respondent in the SMA family group (99%), HCPs (97%) and screening pilot (98%) cohorts agreed \u0026ndash; with most strongly agreeing. For public participants, agreement was 90%, comparable to support elsewhere including Japan (95% support)\u003csup\u003e17\u003c/sup\u003e and Hong Kong (94.6% support)\u003csup\u003e16\u003c/sup\u003e. The significant increase in support from UK SMA families (from 70% in 2017\u003csup\u003e20\u003c/sup\u003e) and the smaller, but notable, increase amongst the public (from 84% in 2018\u003csup\u003e21\u003c/sup\u003e) invariably stems from the advent of therapies and widespread evidence (and media coverage) of improved outcomes for early-treated children. Whilst prognostic uncertainty, anxiety and potential stigmatisation of children diagnosed with adult-onset SMA were recognised as possible harms, these were still seen as outweighed by benefits.\u003c/p\u003e \u003cp\u003eThis study raises significant considerations for national rollout of SMA NBS. Fully informed consent was prioritised by all groups, despite strong views from half of SMA families that SMA NBS should be mandatory. Challenges in gaining informed consent (including the routinisation/proceduralisation of the heel prick test\u003csup\u003e\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e\u003c/sup\u003e) were raised, and have prompted calls to shift NBS consent antenatally to enable more effective parental engagement\u003csup\u003e\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eLevels of screening decline were reportedly low. Distrust of research, genetic testing and screening more broadly, and limited awareness of SMA, were the most common reasons described by screening midwives. Whilst this study was designed to include decliners, in practice there was no uptake. However, the themes identified in the interviews with screening midwives mirror those reported previously\u003csup\u003e\u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e\u003c/sup\u003e. Midwives and screened parents both felt using the same bloodspot sample increased trust and acceptability. The combined qualitative dataset suggested distrust could potentially be higher amongst minoritised groups, reflecting wider trends in screening uptake and refusal\u003csup\u003e\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e\u003c/sup\u003e. However, further research with minoritised groups is indicated to confirm this and to understand barriers and inequities in SMA NBS access.\u003c/p\u003e \u003cp\u003eAnother key finding is the importance of high quality, multidisciplinary family-centred support for screen-positive families. There is some limited evidence in the literature parents can experience denial and/or initially refuse treatment following a screen-initiated diagnosis\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e,\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e,\u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e\u003c/sup\u003e, with subsequent symptoms prompting treatment-seeking\u003csup\u003e\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e\u003c/sup\u003e. The relatively recent approval of SMA treatments\u003csup\u003e\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e\u003c/sup\u003e, emotional distress\u003csup\u003e\u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e\u003c/sup\u003e, absence of symptoms\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e and religious convictions\u003csup\u003e\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e\u003c/sup\u003e have all been identified as contributory factors. This wider context contributes to the challenges in treatment decision-making at a point of emotional vulnerability and SMA inexperience\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e,\u003cspan additionalcitationids=\"CR42\" citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e\u003c/sup\u003e. Indeed, it has been argued that screen-identified families navigate additional challenges compared to those symptomatically-identified\u003csup\u003e\u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e44\u003c/span\u003e\u003c/sup\u003e, including concerns around knowing whether treatment is working\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e,\u003cspan citationid=\"CR42\" class=\"CitationRef\"\u003e42\u003c/span\u003e\u003c/sup\u003e. The need for clinicians to adapt to these psychosocial factors was highlighted by participating SMA HCPs, including the need to be responsive to parents\u0026rsquo; \u0026lsquo;absorptive capacity\u0026rsquo;\u003csup\u003e45\u003c/sup\u003e. This echoes the experience of SMA NBS in Ohio\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e, and Australia\u003csup\u003e\u003cspan citationid=\"CR46\" class=\"CitationRef\"\u003e46\u003c/span\u003e\u003c/sup\u003e, with both studies emphasising the need for compassionate care. Achieving this may involve incremental information delivery, support across the clinical pathway, avenues for parents to ask questions/gather support outside of clinical consultations and collaboration with support/advocacy groups\u003csup\u003e\u003cspan citationid=\"CR47\" class=\"CitationRef\"\u003e47\u003c/span\u003e\u003c/sup\u003e. Further research is indicated to explore the most effective, sensitive and ethically acceptable methods for initial NBS results return (timing, content, mode of delivery) particularly in light of the low false-positive rates and the wealth of outdated information readily accessible to parents online\u003csup\u003e\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e,\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eThis study benefits from a large, diverse dataset, insight from the team\u0026rsquo;s previous work exploring SMA NBS acceptability\u003csup\u003e\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e,\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e\u003c/sup\u003e, PPIE input, cognitive interviews and extensive piloting. Such methodology has proved successful in capturing SMA NBS acceptability elsewhere\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e. There are, however, certain limitations to consider. For the public survey, using (incentivised) Qualtrics market research panels to access a large representative population sample can produce non-genuine responses, such as \u0026lsquo;speeders\u0026rsquo; who do not read the survey before responding. To mitigate this, extensive vetting tools were employed, in conjunction with \u0026lsquo;attention check\u0026rsquo; questions. Our qualitative interviews were high quality, however the lack of participation of decliners is a limitation. Further, as is common for research on screening, female participants were overrepresented, so further research to explore the views of men/fathers is indicated. Finally, only one screen-positive family was identified in the pilot, so further research exploring the experiences of screen-identified SMA families in a UK context is warranted across the spectrum of SMA types.\u003c/p\u003e \u003cp\u003eOverall, 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. Robust consent procedures at population level and high-quality, holistic support for screen-positive families were considered important factors for implementation. 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\u003csup\u003e\u003cspan citationid=\"CR48\" class=\"CitationRef\"\u003e48\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors would collectively like to thank the participants who gave up their time to contribute to this study. Also, to our PPIE group who provided us with invaluable insights and feedback over the course of the study. We would also like to dedicate this paper to the memory of Clare Gray, an esteemed, reflective and highly valued member of our PPIE group.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor Contribution Statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFB: project conceptualisation, funding acquisition, data analysis, manuscript writing RH: project conceptualisation, funding acquisition, manuscript writing PY: project conceptualisation, funding acquisition, manuscript preparation CC: project conceptualisation, funding acquisition, data collection and analysis, manuscript writing\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eApproval for data collection with the public, HCPs and SMA families was granted 18/11/22 by the Biomedical and Scientific Research Ethics Committee, University of Warwick.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eApproval for data collection with families offered screening through the Thames Valley Pilot Study was granted by the Health Research Authority through NHS REC 21/SC/0394 on 15/8/23.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting Interests\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFB sits on the Fetal, Maternal and Child Health Reference Group of the UK National Screening Committee. No other authors have conflicts to declare.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eSpiekerkoetter U, Bick D, Scott R, Hopkins H, Krones T, Gross ES \u003cem\u003eet al.\u003c/em\u003e Genomic newborn screening: Are we entering a new era of screening? \u003cem\u003eJ Inherit Metab Dis\u003c/em\u003e 2023; \u003cstrong\u003e46\u003c/strong\u003e: 778\u0026ndash;795.\u003c/li\u003e\n \u003cli\u003eRankin SM, Marskell L, Hamad L, Machin L. The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening. \u003cem\u003eJ Community Genet\u003c/em\u003e 2025; \u003cstrong\u003e16\u003c/strong\u003e: 589\u0026ndash;601.\u003c/li\u003e\n \u003cli\u003eServais L, Dangouloff T, Muntoni F, Scoto M, Baranello G. Spinal muscular atrophy in the UK: the human toll of slow decisions. \u003cem\u003eThe Lancet\u003c/em\u003e 2025; \u003cstrong\u003e405\u003c/strong\u003e: 619\u0026ndash;620.\u003c/li\u003e\n \u003cli\u003eGenetic Alliance UK. Time to decide: Learning from international approaches to newborn screening decision-making. 2025. https://geneticalliance.org.uk/wp-content/uploads/2025/07/Time-to-decide-Learning-from-international-approaches-newborn-screening-decision-making_Highres-3.pdf (accessed 15 Aug 2025).\u003c/li\u003e\n \u003cli\u003eUK National Screening Committee GU. Criteria for a population screening programme. 2022. https://www.gov.uk/government/publications/evidence-review-criteria-national-screening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screening-programme (accessed 6 Feb 2026).\u003c/li\u003e\n \u003cli\u003eSMA NBS Alliance. White Paper 2024 - Spinal muscular atrophy: Screen at birth, save lives. 2024https://nbs-alliance-assets.gpm.digital/SMA_White_Paper_NBSA_2024_EN_e91bb03c79.pdf (accessed 6 Feb 2026).\u003c/li\u003e\n \u003cli\u003eSchwartz O, Vill K, Pfaffenlehner M, Behrens M, Wei\u0026szlig; C, Johannsen J \u003cem\u003eet al.\u003c/em\u003e Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy. \u003cem\u003eJAMA Pediatr\u003c/em\u003e 2024; \u003cstrong\u003e178\u003c/strong\u003e: 540.\u003c/li\u003e\n \u003cli\u003eKay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK \u003cem\u003eet al.\u003c/em\u003e Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. \u003cem\u003eGenetics in Medicine\u003c/em\u003e 2020; \u003cstrong\u003e22\u003c/strong\u003e: 1296\u0026ndash;1302.\u003c/li\u003e\n \u003cli\u003eButterfield RJ. Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency. \u003cem\u003eSemin Pediatr Neurol\u003c/em\u003e 2021; \u003cstrong\u003e38\u003c/strong\u003e: 100899.\u003c/li\u003e\n \u003cli\u003eM\u0026uuml;ller-Felber W, Vill K, Schwartz O, Gl\u0026auml;ser D, Nennstiel U, Wirth B \u003cem\u003eet al.\u003c/em\u003e Infants Diagnosed with Spinal Muscular Atrophy and 4 \u003cem\u003eSMN2\u003c/em\u003e Copies through Newborn Screening \u0026ndash; Opportunity or Burden? \u003cem\u003eJ Neuromuscul Dis\u003c/em\u003e 2020; \u003cstrong\u003e7\u003c/strong\u003e: 109\u0026ndash;117.\u003c/li\u003e\n \u003cli\u003eGerin L, Ropars J, Garcia-Uzquiano R, G\u0026oacute;mez-Garc\u0026iacute;a De la Banda M, Saugier-Veber P, Desguerre I \u003cem\u003eet al.\u003c/em\u003e Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population. \u003cem\u003eNeurol Genet\u003c/em\u003e 2025; \u003cstrong\u003e11\u003c/strong\u003e. doi:10.1212/NXG.0000000000200222.\u003c/li\u003e\n \u003cli\u003eCusc\u0026oacute; I, Bernal S, Blasco-P\u0026eacute;rez L, Calucho M, Alias L, Fuentes-Prior P \u003cem\u003eet al.\u003c/em\u003e Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. \u003cem\u003eNeurol Genet\u003c/em\u003e 2020; \u003cstrong\u003e6\u003c/strong\u003e: e530.\u003c/li\u003e\n \u003cli\u003eTizzano EF, Quijano-Roy S, Servais L, Parsons JA, Aharoni S, Lakhotia A \u003cem\u003eet al.\u003c/em\u003e Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. \u003cem\u003eEuropean Journal of Paediatric Neurology\u003c/em\u003e 2024; \u003cstrong\u003e53\u003c/strong\u003e: 18\u0026ndash;24.\u003c/li\u003e\n \u003cli\u003eKariyawasam DST, D\u0026rsquo;Silva AM, Vetsch J, Wakefield CE, Wiley V, Farrar MA. \u0026ldquo;We needed this\u0026rdquo;: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy. \u003cem\u003eEClinicalMedicine\u003c/em\u003e 2021; \u003cstrong\u003e33\u003c/strong\u003e: 100742.\u003c/li\u003e\n \u003cli\u003eMeyer AP, Connolly AM, Vannatta K, Hacker N, Hatfield A, Decipeda A \u003cem\u003eet al.\u003c/em\u003e Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy. \u003cem\u003eJ Neuromuscul Dis\u003c/em\u003e 2024; \u003cstrong\u003e11\u003c/strong\u003e: 129\u0026ndash;142.\u003c/li\u003e\n \u003cli\u003eMak CM, Lee JKH, Wong JCL, Law CY, Chan CHT, Yeung CW \u003cem\u003eet al.\u003c/em\u003e Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong. \u003cem\u003eCureus\u003c/em\u003e 2025. doi:10.7759/cureus.79190.\u003c/li\u003e\n \u003cli\u003eLee T, Tokunaga S, Taniguchi N, Fujino T, Saito M, Shimomura H \u003cem\u003eet al.\u003c/em\u003e Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan. \u003cem\u003eChildren\u003c/em\u003e 2021; \u003cstrong\u003e8\u003c/strong\u003e: 694.\u003c/li\u003e\n \u003cli\u003eLin P-J, Yeh W-S, Neumann PJ. Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy. \u003cem\u003ePediatr Neurol\u003c/em\u003e 2017; \u003cstrong\u003e66\u003c/strong\u003e: 69\u0026ndash;75.\u003c/li\u003e\n \u003cli\u003eWood MF, Hughes SC, Hache LP, Naylor EW, Abdel‐Hamid HZ, Barmada MM \u003cem\u003eet al.\u003c/em\u003e Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. \u003cem\u003eMuscle Nerve\u003c/em\u003e 2014; \u003cstrong\u003e49\u003c/strong\u003e: 822\u0026ndash;828.\u003c/li\u003e\n \u003cli\u003eBoardman FK, Young PJ, Griffiths FE. Newborn screening for spinal muscular atrophy: The views of affected families and adults. \u003cem\u003eAm J Med Genet A\u003c/em\u003e 2017; \u003cstrong\u003e173\u003c/strong\u003e: 1546\u0026ndash;1561.\u003c/li\u003e\n \u003cli\u003eBoardman FK, Sadler C, Young PJ. Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. \u003cem\u003eMol Genet Genomic Med\u003c/em\u003e 2018; \u003cstrong\u003e6\u003c/strong\u003e: 99\u0026ndash;108.\u003c/li\u003e\n \u003cli\u003eBoardman FK, Hale R, Gohel R, Young PJ. Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening. \u003cem\u003eMol Genet Genomic Med\u003c/em\u003e 2019; \u003cstrong\u003e7\u003c/strong\u003e. doi:10.1002/mgg3.618.\u003c/li\u003e\n \u003cli\u003eBoardman FK, Clark C, Jungkurth E, Young PJ. Social and cultural influences on genetic screening programme acceptability: A mixed‐methods study of the views of adults, carriers, and family members living with thalassemia in the UK. \u003cem\u003eJ Genet Couns\u003c/em\u003e 2020; \u003cstrong\u003e29\u003c/strong\u003e: 1026\u0026ndash;1040.\u003c/li\u003e\n \u003cli\u003eBoardman FK, Clark CC. What is a \u0026lsquo;serious\u0026rsquo; genetic condition? The perceptions of people living with genetic conditions. \u003cem\u003eEuropean Journal of Human Genetics\u003c/em\u003e 2022; \u003cstrong\u003e30\u003c/strong\u003e: 160\u0026ndash;169.\u003c/li\u003e\n \u003cli\u003eBoardman F, Roberts J, Clark C, Onuegbu C, Harris B, Seers K \u003cem\u003eet al.\u003c/em\u003e Qualitative Remote Data Collection Guidance 2024. Coventry, 2024 doi:10.31273/9781911675174.\u003c/li\u003e\n \u003cli\u003eSaldaña Johnny. \u003cem\u003eThe coding manual for qualitative researchers\u003c/em\u003e. 2nd ed. SAGE Publications: London, 2013.\u003c/li\u003e\n \u003cli\u003eFereday J, Muir-Cochrane E. Demonstrating Rigor Using Thematic Analysis: A Hybrid Approach of Inductive and Deductive Coding and Theme Development. \u003cem\u003eInt J Qual Methods\u003c/em\u003e 2006; \u003cstrong\u003e5\u003c/strong\u003e: 80\u0026ndash;92.\u003c/li\u003e\n \u003cli\u003eMoran-Ellis J, Alexander VD, Cronin A, Dickinson M, Fielding J, Sleney J \u003cem\u003eet al.\u003c/em\u003e Triangulation and integration: processes, claims and implications. \u003cem\u003eQualitative Research\u003c/em\u003e 2006; \u003cstrong\u003e6\u003c/strong\u003e: 45\u0026ndash;59.\u003c/li\u003e\n \u003cli\u003eEpstein EG, Hamric AB. Moral distress, moral residue, and the crescendo effect. \u003cem\u003eJ Clin Ethics\u003c/em\u003e 2009; \u003cstrong\u003e20\u003c/strong\u003e: 330\u0026ndash;42.\u003c/li\u003e\n \u003cli\u003eGenomics England. The Generation Study Protocol v3.0. 2023 https://files.genomicsengland.co.uk/documents/Newborns/Generation-Study-Protocol_nc.pdf (accessed 6 Feb 2026).\u003c/li\u003e\n \u003cli\u003eCaga-anan ECF, Smith L, Sharp RR, Lantos JD. Testing Children for Adult-Onset Genetic Diseases. \u003cem\u003ePediatrics\u003c/em\u003e 2012; \u003cstrong\u003e129\u003c/strong\u003e: 163\u0026ndash;167.\u003c/li\u003e\n \u003cli\u003eCollyer Merritt E. Infected blood scandal: Background, impacts, inquiry outcomes and compensation. UK Parliament, House of Lords Library. 2024.https://lordslibrary.parliament.uk/infected-blood-scandal-background-impacts-interim-compensation-and-inquiry-outcomes/ (accessed 6 Feb 2026).\u003c/li\u003e\n \u003cli\u003ePowell W, Richmond J, Mohottige D, Yen I, Joslyn A, Corbie-Smith G. Medical Mistrust, Racism, and Delays in Preventive Health Screening Among African-American Men. \u003cem\u003eBehavioral Medicine\u003c/em\u003e 2019; \u003cstrong\u003e45\u003c/strong\u003e: 102\u0026ndash;117.\u003c/li\u003e\n \u003cli\u003eHong QN, Pluye P, F\u0026agrave;bregues S, Bartlett G, Boardman F, Cargo M \u003cem\u003eet al.\u003c/em\u003e VP26 A Critical Appraisal Tool For Systematic Mixed Studies Reviews. \u003cem\u003eInt J Technol Assess Health Care\u003c/em\u003e 2018; \u003cstrong\u003e34\u003c/strong\u003e: 166\u0026ndash;166.\u003c/li\u003e\n \u003cli\u003eNicholls SG. Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening. \u003cem\u003eJ Med Ethics\u003c/em\u003e 2012; \u003cstrong\u003e38\u003c/strong\u003e: 299\u0026ndash;303.\u003c/li\u003e\n \u003cli\u003eKlapwijk JE, Gitsels-van der Wal J, Martin L, Verschoof-Puite RK, Elsinghorst E, Henneman L. Maternity Care Providers\u0026rsquo; Experiences with Providing Information on Newborn Bloodspot Screening During Pregnancy: A Dutch Survey Study. \u003cem\u003eInt J Neonatal Screen\u003c/em\u003e 2025; \u003cstrong\u003e11\u003c/strong\u003e: 5.\u003c/li\u003e\n \u003cli\u003eKraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V \u003cem\u003eet al.\u003c/em\u003e Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. \u003cem\u003eGenetics in Medicine\u003c/em\u003e 2018; \u003cstrong\u003e20\u003c/strong\u003e: 608\u0026ndash;613.\u003c/li\u003e\n \u003cli\u003eOffice for Health Improvement \u0026amp; Disparities. Population screening: review of interventions to improve participation among underserved groups. 2022 https://www.gov.uk/government/publications/population-screening-improving-participation-in-underserved-groups/population-screening-review-of-interventions-to-improve-participation-among-underserved-groups (accessed 14 Aug 2025).\u003c/li\u003e\n \u003cli\u003eVill K, Schwartz O, Blaschek A, Gl\u0026auml;ser D, Nennstiel U, Wirth B \u003cem\u003eet al.\u003c/em\u003e Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. \u003cem\u003eOrphanet J Rare Dis\u003c/em\u003e 2021; \u003cstrong\u003e16\u003c/strong\u003e: 153.\u003c/li\u003e\n \u003cli\u003eBoemer F, Caberg J-H, Beckers P, Dideberg V, di Fiore S, Bours V \u003cem\u003eet al.\u003c/em\u003e Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. \u003cem\u003eSci Rep\u003c/em\u003e 2021; \u003cstrong\u003e11\u003c/strong\u003e: 19922.\u003c/li\u003e\n \u003cli\u003eSandelowsky SA, McEwen A, Russell J, Boggs K, Junek R, Ellaway C \u003cem\u003eet al.\u003c/em\u003e An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening. \u003cem\u003eInt J Neonatal Screen\u003c/em\u003e 2025; \u003cstrong\u003e11\u003c/strong\u003e: 32.\u003c/li\u003e\n \u003cli\u003eLeach M, Finanger E, Izumi S. 155P The experience of parents as they make treatment decisions for their child with spinal muscular atrophy and the factors that influence these decisions: a narrative review. In: \u003cem\u003eNeuromuscular Disorders\u003c/em\u003e. 2024, p 104441.590.\u003c/li\u003e\n \u003cli\u003eBoursange S, Araneda M, Stalens C, Desguerre I, Barnerias C, Nougues M-C \u003cem\u003eet al.\u003c/em\u003e Parents\u0026rsquo; dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. \u003cem\u003eFront Pediatr\u003c/em\u003e 2022; \u003cstrong\u003e10\u003c/strong\u003e. doi:10.3389/fped.2022.1062390.\u003c/li\u003e\n \u003cli\u003eBreeze AA. Comparing Psychosocial Impacts of Spinal Muscular Atrophy Diagnoses Before and After Newborn Screening Implementation. \u003cem\u003eUniversity of Pittsburgh\u0026thinsp;ProQuest Dissertations \u0026amp; Theses\u003c/em\u003e, 2023; 30612852\u003c/li\u003e\n \u003cli\u003eWhite AL, Boardman F, McNiven A, Locock L, Hinton L. Absorbing it all: A meta-ethnography of parents\u0026rsquo; unfolding experiences of newborn screening. \u003cem\u003eSoc Sci Med\u003c/em\u003e 2021; \u003cstrong\u003e287\u003c/strong\u003e: 114367.\u003c/li\u003e\n \u003cli\u003eKariyawasam D, Russell JS, Wiley V, Alexander IE, Farrar MA. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. \u003cem\u003eGenetics in Medicine\u003c/em\u003e 2020; \u003cstrong\u003e22\u003c/strong\u003e: 557\u0026ndash;565.\u003c/li\u003e\n \u003cli\u003eCooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J \u003cem\u003eet al.\u003c/em\u003e Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy. \u003cem\u003eInt J Neonatal Screen\u003c/em\u003e 2024; \u003cstrong\u003e10\u003c/strong\u003e: 49.\u003c/li\u003e\n \u003cli\u003eHarcombe J. SMA Screening ISE partnership board updated on NIHR research call. UK National Screening Committee, GOV UK. 2025. https://nationalscreening.blog.gov.uk/2025/06/10/sma-screening-ise-partnership-board-updated-on-nihr-research-call/ (accessed 6 Feb2026).\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003eTables 1 to 4 are available in the supplementary files section\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"","lastPublishedDoi":"10.21203/rs.3.rs-8881933/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8881933/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"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.\r\nSMA NBS is widely acceptable to relevant stakeholder groups, though rapid, high-quality support for families is essential following diagnosis.","manuscriptTitle":"Acceptability of newborn screening for Spinal Muscular Atrophy: views of the UK public, screened families, health professionals and SMA community","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-02-23 08:44:34","doi":"10.21203/rs.3.rs-8881933/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"revise","date":"2026-03-16T15:48:31+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"This content is not available.","date":"2026-03-11T09:55:12+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2026-03-10T13:22:05+00:00","index":2,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2026-02-25T23:06:10+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2026-02-17T21:48:49+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2026-02-17T14:24:48+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-02-16T12:21:19+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-02-14T18:15:51+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2026-02-14T18:15:50+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"b490eb8c-e92b-4259-bc4f-8112e70dfe23","owner":[],"postedDate":"February 23rd, 2026","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":63076760,"name":"Health sciences/Health care/Medical ethics"},{"id":63076761,"name":"Health sciences/Health care/Health policy"}],"tags":[],"updatedAt":"2026-04-10T07:12:19+00:00","versionOfRecord":{"articleIdentity":"rs-8881933","link":"https://doi.org/10.1038/s41431-026-02096-9","journal":{"identity":"european-journal-of-human-genetics","isVorOnly":false,"title":"European Journal of Human Genetics"},"publishedOn":"2026-04-09 04:00:00","publishedOnDateReadable":"April 9th, 2026"},"versionCreatedAt":"2026-02-23 08:44:34","video":"","vorDoi":"10.1038/s41431-026-02096-9","vorDoiUrl":"https://doi.org/10.1038/s41431-026-02096-9","workflowStages":[]},"version":"v1","identity":"rs-8881933","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8881933","identity":"rs-8881933","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}