Update on UK SMA Newborn Screening Alliance Engagement with UK NSC

You may have seen in our social media feed that the UK NSC recently published a blog on work that is underway to assess SMA for newborn screening. The UK SMA Newborn Screening Alliance is delighted that work is progressing and we wanted to provide an update on how we have been involved so far. We are also looking forward to hearing more about the Oversight Group that is going to be established to agree plans for the in service evaluation of newborn screening for SMA.

First a quick recap, back in June 2023, UK NSC committee members agreed that the next steps in the assessment of newborn screening for SMA should be to:

• develop a new comprehensive and flexible cost-effectiveness SMA screening modelling study for the UK screening context

• start scoping an in-service evaluation (ISE) of newborn screening for SMA in real world NHS services in the UK.

The Alliance was really pleased to hear that both of these elements would progress in tandem, rather than sequentially as initially expected. This combined approach shaved a significant amount of time from the original timeline. It is important to keep up the momentum – newborn screening for SMA cannot come soon enough given the enormous difference it will make to babies with SMA and their families.

In preparation for an in-service evaluation, the UK NSC team are immersing themselves in SMA and the evolving evidence around different approaches taken to implementing newborn screening for SMA, whilst also thinking about what an appropriate approach would be in an NHS setting. This has included finding out more about the existing SMA newborn screening pilot, which is being led by the Alliance’s Chair, Professor Laurent Servais.

Alliance members have also attended two very productive workshops to discuss factors that might inform the development of an economic model, which will increase the UK NSC’s understanding of the impact and cost of newborn screening for SMA. The collaborative discussions, where expert clinical input was valuable, have helped shed light on specific considerations related to the diagnosis and treatment of SMA, and the outcomes that an economic model might include.

All of this work is leading up to the establishment of an Oversight Group, which will play a key role in developing plans for the in service evaluation. The first meeting of the Oversight Group will take place in November with members of the UK NSC and NHS representatives from England and the devolved nations. This initial meeting will be for planning purposes and attendees will decide which other stakeholders should be invited to become members.

Members of the UK SMA Newborn Screening Alliance look forward to hearing the outcome of the first meeting of the Oversight Group. We remain committed and focused on ensuring the introduction of newborn screening for SMA at the earliest opportunity.