SMA Newborn Screening In-Service Evaluation Must be for All Newborns in the UK

As more countries introduce newborn screening for spinal muscular atrophy (SMA), it is important that UK babies with SMA do not get left behind. The UK National Screening Committee Spinal Muscular Atrophy In-Service Evaluation Partnership Board will meet next week, and it is hoped that the scope of the in-service evaluation (ISE) that is being planned will be discussed. There is an opportunity to ensure that the ISE is comprehensive and offers newborn screening for SMA to all newborn babies across the UK, removing health inequalities that have emerged across the SMA community.

Clear case for newborn screening for SMA:

The case for pre-symptomatic treatment of babies with SMA is clear beyond doubt and many other countries have already introduced newborn screening for SMA, which is the fastest route to a diagnosis of SMA and maximises the chance of babies being treated before the onset of irreversible symptoms.

In recent weeks and months, we have had news that the Irish health ministry has approved adding newborn screening for SMA to the Irish newborn screening programme and that 100 percent of US states now offer babies newborn screening for SMA. These two recent announcements are significant but follow commitments and implementation in many other countries in Europe and beyond, including war-torn Ukraine.

Some babies are already screened but this is creating inequalities:

At present, testing for SMA is provided in-utero to babies when an older sibling has SMA. This enables a small group of babies with SMA to receive appropriate treatment as soon as they are born, following discussions between expert neuromuscular clinicians and the baby’s family/carers. This has facilitated the timely diagnosis and treatment of babies like Amelia, whose older sister Masie has SMA Type 1. Having treatment before symptom onset means that Amelia has enjoyed typical neuromuscular development, as evidenced in this video.

However, most babies born with SMA do not have an older sibling. Most babies in the UK do not therefore receive a diagnosis of SMA at birth and are diagnosed due to observed symptoms which suggest that the baby is not hitting expected developmental milestones. The implications of this delayed diagnosis are severe, as once the condition progresses, these symptoms cannot be reversed.

We have an opportunity to address inequalities in SMA across the UK by taking an ambitious approach to the in-service evaluation:

The UK has a defined process and criteria for assessing whether or not to recommend that new conditions are added to the national newborn screening programme, which is managed by the UK NSC. The UK NSC has proposed that an in-service evaluation is completed to inform eventual decision-making about whether to screen newborn infants routinely for SMA in the UK.

There has not yet been agreement on how much of the country will be included in the in-service evaluation and how many babies will have the opportunity to be screened for SMA at birth.

If we fail to take an ambitious approach, there is a risk that the inequalities currently in place between siblings of children already diagnosed with SMA (who are tested for SMA due to increased risk of having the condition) and the wider population (who are not routinely tested) will be exacerbated. The reality of this inequality is that some children with SMA are tested and treated in a timely manner, whilst some do not have the same opportunity and may miss the critical pre-symptomatic treatment window. This results in radically different outcomes for different babies with SMA, and radically different experiences for their families and carers.

When the Spinal Muscular Atrophy In-Service Evaluation Partnership Board meets, the UK SMA Newborn Screening Alliance urges the UK NSC to ensure that the ISE provides complete coverage of the UK population, ensuring that all babies are screened for SMA at birth.