The UK SMA Newborn Screening Alliance, an initiative established by SMA UK, brings together SMA advocacy groups, leading clinicians and academics as well as representatives from the SMA community. Together, we have been working closely with the UK National Screening Committee (NSC) to share experiences, statistics and research, not only to speed up the process but also to ensure that the urgency for a UK wide screening programme, and the real-world impact of late treatment, is fully understood.  

Whenever the UK NSC consider whether to recommend a condition for screening, they are required to create an economic model which will give them the information they need about what the predicted costs of screening in the UK will be versus the benefits. There is already significant data available about newborn screening (NBS) for SMA from multiple countries across the world. The UK NSC have considered this information but have decided that they  will still need to design their own economic model fit for their specific purposes.  

At the outset of the SMA newborn screening assessment, the UK NSC initially proposed to plan for and create an economic model before establishing an in-service evaluation or pilot, which the SMA community was worried about as it created a lengthy timeline for the assessment of newborn screening for SMA.  

However, at the recent NSC meeting, held on 6th June, for the first time, the committee recommended that planning starts for an in-service evaluation (ISE), which is a type of pilot, at the same time as creating the new economic model. Given the UK is currently bound by strict processes for the introduction of any screening programme, this pragmatic approach has been welcomed by patient groups, clinicians and many others who are advocating for the fastest possible introduction of NBS for SMA . We are pleased that the original timeline has been shortened significantly by allowing these steps to run simultaneously. 

The NSC emphasised that this was not a recommendation to introduce screening for SMA. Rather, it is an innovative way to ensure the economic model being created is as reliable and as accurate as possible. They plan to enhance the model with data from the in-service evaluation to ensure that the final recommendation on newborn screening for SMA is informed by real world evidence from screening in the NHS.  

This announcement is progress. It’s a decision that shows the impact of the work of the Alliance. But whilst newborns will be screened for SMA whilst this evaluation happens, it is not the final decision that we, the SMA community need now, and it does not catch us up with the rest of the world. 

Nothing highlights this more than the work currently going on in war torn Ukraine, where a decision was made to introduce expanded neonatal screening at the earliest opportunity. The pilot started on Oct 17, 2022. During the first 7 months of the programme, 65 880 newborns were screened and 11 babies with SMA were identified. SMA UK wholeheartedly agree with an article recently published in the Lancet: 

‘We think that the successful implementation of genetic newborn screening in Ukraine, despite the challenges introduced by the nation being in a state of war, illustrates that management and prevention of rare diseases is not only important, but also feasible even in circumstances that compromise state organisation. We hope that the Ukrainian experience might inspire physicians struggling to implement newborn screening for spinal muscular atrophy and other rare conditions in their own countries.’1 

We will continue to work with the NBS Collaborative which brings together 13 rare condition patient groups and Genetic Alliance and MDUK to advocate for change to the slow and lengthy processes in the UK so that NBS for rare conditions are introduced in a timely way.  

How can you help?  

Currently in the UK, newborn screening for SMA is only possible if there is an older sibling living with the condition. If your family has accessed newborn screening for SMA in the UK we would love to hear your story. What difference has early treatment made to your lives? Your stories provide the Alliance with powerful arguments for the implementation of newborn screening for SMA in the UK.