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Why we are advocating for newborn screening

Spinal Muscular Atrophy is a rare, neuromuscular condition causing progressive muscle wasting and weakness. It may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. How severely people are affected, and in what way, varies greatly.

Early detection of SMA is critical in ensuring that babies born with the condition can receive the necessary treatments and care which will stop the devesting disease progression.

Currently, babies born in the UK are not routinely screened for SMA as part of the newborn screening blood spot test.

Over 65% of European countries now have SMA included on their NBS programme and with Republic of Ireland approving last week, they join Luxembourg, Slovakia and Greece which are all planned for 2024. These countries have all recognised the positive impact screening can make on the lives of so many. 

Carried out within a few days of birth, the current NHS newborn blood spot (NBS) screening programme supports the early identification, referral and treatment of babies with nine rare but serious conditions. This helps to prevent death or complex and expensive lifelong health challenges. In 2018, newborn screening for SMA was rejected in the UK.

In the last three years, the NHS has revolutionised care for children, young people and adults who have SMA by securing and funding access to three ground-breaking treatments. There is now clear evidence that early diagnosis and treatment of SMA leads to better outcomes. Many countries across the world already have NBS for SMA.

UK SMA NBS Alliance

SMA UK and MDUK have jointly secured funding for, and are key members of, the UK SMA Newborn Screening Alliance.

Founded in 2020 it is chaired and led by Professor Laurent Servais, with Project Manager Alice Fabre. The alliance is made up of clinicians, patient groups and other stakeholders who are all working to ensure that newborn screening for SMA comes to fruition in the UK.

To achieve the earliest possible introduction of newborn screening for SMA in the UK to deliver the best outcomes from treatment and reduce future healthcare costs.

For more information about the UK SMA NBS Allicance click here


Timeline of our advocacy work for newborn screening


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.


June – August
Petition to introduce NBS in the UK gained 11,718 signatories. The Government responded and confirmed that this work will take place in 2021/22.

26th March
European Newborn Screening Alliance launches Whitepaper on the need for NBS programmes to include SMA.

23rd July:
Genetic Alliance UK launches ‘Fixing the Present, Building the Future – NBS for Rare Conditions’. SMA UK was a participant in the workshop that led to this report.

18th February:
UK National Screening Committee does not recommend carrier or NBS for SMA  

SMA UK supports Dr Felicity Boardman’s ‘Imagining Futures’ Research into views of NBS for SMA held by people affected by SMA. There are 337 respondents and 36 in depth interviews.

Research Summary 

Imagining Futures – ongoing work