Update on progress in the UK NSC assessment of newborn screening for spinal muscular atrophy

The UK NSC has published a blog today that summarises progress on the assessment of newborn screening for SMA. We are pleased to see this blog, which the UK NSC has said will be the first of a series of blogs designed to keep the SMA community, and others with an interest in newborn screening, up to speed on developments in the assessment.

The blog can be downloaded here and includes a recap of what has happened so far and what is going to happen next in relation to newborn screening for SMA.

As many of you will be aware, at the outset of the review, the School of Health and Related Research (ScHARR) at the University of Sheffield was commissioned by UK NSC to review existing evidence on newborn screening for SMA and assess whether an economic model would be needed to develop a deeper understanding of the cost effectiveness of newborn screening for SMA in the UK.

At the June meeting of the UK National Screening Committee, the committee made a recommendation that a new economic model would be commissioned and that work to scope an in service evaluation (pilot) of newborn screening for SMA should be conducted at the same time.

This is an important step and reflects a departure from the much longer timeline that was anticipated at the start of the process, whereby a model would be scoped prior to consideration of an in service evaluation.

The Alliance recognises that newborn screening for SMA cannot come fast enough and we have repeatedly communicated with a wide range of stakeholders including parliamentarians, policy makers and the media that we think the evidence exists to support newborn screening now.  It is frustrating to see the Ukraine establish newborn screening programmes faster than we have managed in the UK, as reported in The Lancet last month. 

However, we also recognise that we are operating in a country where there are specific processes to prepare for the introduction of newborn screening and we appreciate that efforts have been made to compress this part of the timeline, in recognition of the strong evidence base for newborn screening for SMA.

We will continue to seek ways in which processes can be expedited and our overriding priority is to try to ensure that newborn screening is recommended for the whole UK population as soon as possible. 

An in service evaluation will help UK NSC develop UK specific evidence on newborn screening for SMA and understand how newborn screening for SMA might work in a UK setting, with a view to informing the committee’s final recommendation on whether to recommend that SMA is added to the UK newborn screening programme and heel prick test.

The UK SMA Newborn Screening Alliance will draw on the expertise of its clinical, academic and patient group members to support UK NSC and those involved in planning for an SMA in service evaluation. Immediate plans include running a webinar and establishing a rapid response SMA Q&A service to help answer any questions on the current SMA service and patient pathways. We hope this will simplify some of the complexity around SMA and help speed up preparations for an in service evaluation.