Planning for the SMA “in service evaluation” is making good progress but we must maintain momentum to remove health inequalities for babies born in the UK as soon as possible 

The UK National Screening Committee has recently published a blog reporting significant progress with SMA in service evaluation planning. Members of the UK SMA Newborn Screening Alliance are working closely with the UK NSC to support planning efforts. 

It is fantastic that progress is being made towards newborn screening for SMA in the UK, but we must maintain momentum. The UK is increasingly an outlier on newborn screening for SMA compared to other countries, as emphasised by a recent European consensus paper.

Newborn screening for SMA should be implemented at the earliest possible opportunity to remove health inequalities for babies born in the UK. 

What is happening with planning for an in service evaluation?

At its meeting In June 2023, the UK NSC made a recommendation that an “in service evaluation (ISE)” (pilot) of newborn screening for SMA should be conducted. This “ISE” is intended to:

  • help UK NSC develop UK specific evidence on newborn screening for SMA 
  • understand how it might work in a UK setting
  • inform the committee’s final recommendation on whether to recommend that SMA is added to the UK newborn screening programme.

Since the meeting, UK NSC has established an SMA Screening In-service evaluation (ISE) Partnership Board and three expert sub-groups to develop robust plans for an ISE. The blog recently published on the UK NSC website sets out the progress that has been made including:

  • Finalisation of the National Institute for Health and Care Research (NIHR) call for research specification, which will help potential researchers understand exactly what questions the ISE needs to answer and how. This is likely to be advertised later this summer to identify a supplier to run the ISE.
  • Development of a clinical pathway to be used in the ISE, which is close to completion.
  • Agreement that the fastest route to setting up the ISE and offering some babies the opportunity of newborn screening for SMA is to start with those labs that are already set up to screen for another rare disease, SCID.
    • The intention is that the ISE will be established with this limited population for an initial period.  After this a decision will be made whether to increase ISE screening to cover all babies across the UK. This would be before the UK NSC makes a formal recommendation regarding NBS for SMA becoming routine.

SMA UK has prepared a helpful, clear and detailed summary of developments here.

Why is it important to maintain momentum and push for newborn screening for SMA at the earliest possible opportunity?

A recent paper sets out areas of consensus amongst European clinicians and academics on the use of gene therapy for SMA . This picks up on the strong case for newborn screening for SMA, reflecting the accumulating evidence across Europe to support its clinical and cost effectiveness. Many European countries already offer newborn screening for SMA, even war-torn Ukraine.

The following position included in the consensus paper is particularly relevant:

 “New consensus statement 12 SMA should be included in newborn screening programs in countries where at least one disease-modifying treatment is readily available.”

The UK already has multiple treatments for SMA that are not being used to best effect as they are reliant on diagnosis through the identification of symptoms of SMA. But for many this diagnosis is very late, the condition has progressed and some damage may be irreversible.  This means that from a clinical outcomes and cost effectiveness perspective, we are currently falling short. 

There is a small exception to this current pattern of late diagnosis with babies who have a sibling who has SMA. They may be screened for SMA in utero and therefore given the opportunity for treatment to be initiated at birth.

What questions does the Alliance continue to ask?

It is positive that we are working on the ISE and we greatly appreciate the efforts and collaborative approach of the UK NSC.  

However, in the light of this new European consensus paper, it seems important to:

  • reduce the overall length of the ISE where possible 
  • minimise the phase of the ISE where only SCID centres will screen for SMA. 
  • give newborn screening for SMA the attention and funding it requires from the NHS. This will ultimately save money for the government and transform the lives of babies with SMA and their families.
Members of the UK SMA Newborn Screening Alliance have a number of outstanding questions:What is the earliest point at which the ISE can expand to cover all UK newborns?What needs to happen to make this a reality?How can we ensure that NHS colleagues are adequately funded and supported to roll out newborn screening for SMA through the in service evaluation? 

Concluding thoughts:

It is essential that we maintain momentum for rolling out newborn screening for SMA and ensure that the teams required to implement the ISE within the NHS are properly supported to do so.  In this way health inequalities for babies with SMA in the UK will be minimised, compared to those who are screened due to their siblings having SMA and those in countries already offering newborn screening. 

We must ensure newborn screening for SMA for all across the UK at the earliest possible opportunity.

#ScreenTodayForSMA