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Petition Fund newborn screening for spinal muscular atrophy immediately

Every five days in the UK, a baby is born with spinal muscular atrophy (SMA), a severe muscle disease which, if untreated, can lead to complex disability and, at its most severe, death. If treatments available now are delivered at birth, these children have the best chance of long and healthy lives.

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Several countries already have newborn screening (NBS) for SMA. A baby born in the US, will be screened for SMA, and can receive treatment if necessary. In the UK a baby is only tested for SMA after he/she presents symptoms, which are currently irreversible, or if a relative has typical symptoms of SMA. This inequality in life chances is not acceptable. Screening for SMA is safe, cost-effective, and extremely efficient. It could save lives and public money. For every 5 days that a decision is delayed, a baby with SMA could lose the chance of a brighter future.

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Government responded

This response was given on 25 August 2021

The benefits and harms of screening for spinal muscular atrophy in newborns must be carefully assessed. The United Kingdom National Screening Committee will next review the evidence in 2022.

Newborn blood spot screening enables early identification, referral and treatment of babies with nine rare but serious conditions. The programme helps to improve their health and prevent severe disability or even death.

For each condition screened for in the newborn blood spot screening programme, the benefits of screening have been demonstrated to outweigh the risks.

The UK National Screening Committee (UK NSC) advises the NHS and ministers on all aspects of screening continually reviews the evidence for newborn screening tests to assess the balance of harms and benefits. The UK NSC welcomes proposals for new conditions to be considered for screening via its annual call for topics, which runs from September to December each year. Stakeholders and members of the public can submit a proposal for consideration during this period. More information can be found here: https://www.gov.uk/government/publications/uk-nsc-evidence-review-process/uk-nsc-evidence-review-process

The evidence for spinal muscular atrophy (SMA) screening will be reassessed as part of the UK NSC’s 2021/22 programme of work, according to its regular triennial review process. When it was last reviewed in 2018, the UK NSC recommended that population screening for SMA should not be introduced. This is because the condition did not fit the UK NSC’s criteria for a viable, effective and appropriate screening programme, in summary:

- there was not enough information about the total number of people affected by SMA in the UK
- evidence to show how effective a screening programme would be was not available
- the evidence about the effectiveness, particularly long term, of newly available treatments in people who do not show symptoms of SMA was too limited
- there was not enough evidence on how well the test for SMA performs
- the best way to support people who receive positive results was not known.

More information about this review can be found at the UK NSC’s website: https://view-health-screening-recommendations.service.gov.uk/sma/. The UK NSC’s criteria for appraising the viability, effectiveness and appropriateness of a screening programme are here: https://www.gov.uk/government/publications/evidence-review-criteria-national-screening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screening-programme

The UK NSC has considered how other countries screen conduct screening for newborns. Some countries screen for more conditions, including SMA, in their newborn blood spot screening programmes. Comparing them to the UK however can be misleading. Screening programmes in the UK have a cautious and rigorous approach towards evaluating the benefits and harms of screening compared to many other countries. Evaluating the possible harms of screening is essential, as families of newborns could receive false positive or indeterminate results. This can lead to unnecessary diagnostic procedures and unnecessary treatment. Screening can also result in false reassurance, which can also be harmful. Other countries often do not have such the rigorous approach to the assessment of screening needed: https://www.bmj.com/content/361/bmj.k1612

In the UK, newborn screening is an intensely quality assured process which includes a full end to end pathway. This pathway covers everything from the invitation to take part in screening (which is extended to every parent), testing, further testing as required, referral, diagnosis and treatment. Screening is not undertaken in the UK for conditions where this pathway cannot be assured. Other countries do not always have such a robust end to end and nationally applicable service. This ultimately leads to better, safer outcomes for children and their families in the UK.

We will continue to keep the newborn bloodspot screening programme under review, and respond to the expert advice of the UK NSC as required.

The Government is dedicated to improving the life of patients with rare conditions. This is set out in our commitments for patients in the NHS Long Term Plan and the UK Rare Diseases Framework. The NHS Long Term Plan sets out the ambition to focus targeted investment in areas of innovation, particularly genomics. This will enable more comprehensive and precise diagnosis and allow patients to access more targeted treatments to reduce the use of harmful medications and interventions. We have also recently instituted structures to implement the UK Rare Diseases Framework, including for UK-wide coordination and delivering nation-specific action plans, and for engagement with communities engaged with rare diseases. These groups highlight our commitment to improving the lives of those living with rare conditions, empowering patients and improving collaboration between policy makers and patients.

Department of Health and Social Care

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