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Working in partnership to plan in-service evaluation of newborn screening for SMA

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The UK National Screening Committee (UK NSC) continues to press ahead with its work to review the case for newborn screening for spinal muscular atrophy (SMA).

We blogged last year about the committee’s plans to:

  • develop a new comprehensive and flexible cost-effectiveness SMA screening modelling study for the UK screening context
  • start scoping an in-service evaluation (ISE) of newborn blood spot (NBS) screening for SMA in real world NHS services in the UK

Last week, we held the inaugural meeting of the SMA ISE partnership board, chaired by Prof Anne Mackie, who leads the UK NSC secretariat. The board includes screening experts from the 4 UK governments and NHS England's Vaccination and Screening Directorate as well as organisations that have a shared interest in newborn screening for SMA, clinicians, academics, genomic experts and patient and public voice members.

This board will:

  • oversee the development of the ISE, to ensure it provides robust evidence to support a definitive UK NSC recommendation
  • be responsible for the design and delivery of high-quality evidence in respect of the feasibility, acceptability, cost, and clinical effectiveness of newborn screening for SMA

The SMA ISE will also have 3 expert sub-groups that report to the board – a clinical pathway group, a data and methodology group and a laboratory group.

At its inaugural meeting, the SMA ISE partnership discussed the UK NSC’s principles and guidance for stakeholders on declaring any actual, potential or perceived conflicts of interest. All board members will be required to complete the UK NSC declaration of interests form. Board members were also updated on the definition and role of ISEs in the UK NSC evidence review process.

Three external partners then gave updates on key workstreams.

National Institute for Health and Care Research

The National Institute for Health and Care Research (NIHR) Health Technology Assessment (HTA) programme anticipates issuing a call for research evaluating specific health-related outcomes of the ISE. Potential research questions may include, but will not be limited to:

  • the impact of newborn screening for SMA on the quality of life of individuals and their families in the UK
  • assessing newborn SMA testing technologies
  • the acceptability of SMA newborn screening for families, individuals and healthcare professionals
  • the cost-effectiveness and feasibility of screening for SMA in the NBS screening programme

It is anticipated that the research call will open in the summer of 2024 . Further details will be published on the NIHR website in due course.

Genomics England

The interim medical director of Genomics England presented an update on the Generation Study, which will explore the benefits, challenges and practicalities of sequencing and analysing newborns’ genomes.

The study is due to start this spring and aims to test the DNA of more than 100,000 babies for more than 200 rare conditions caused by genetic changes in more than 500 different genes.

One of the 200-plus conditions is SMA, so the Generation Study will need to be closely aligned with the ISE to ensure diagnostic and clinical pathways are consistent. The 2 groups will work together through regular update meetings.

Oxford/Thames Valley based SMA newborn screening study

The lead for the Oxford/Thames Valley based SMA newborn screening study presented an overview and update of the study’s progress.

He reported that 14,000 babies had so far been screened, with one positive case detected and no false positive results reported. Members of this study team are represented on the SMA ISE partnership board and expert groups to enable joint working and sharing of information.

Watch this space

The meeting concluded by reviewing the terms of reference for the partnership board and its sub-groups and having a brief discussion around the frequency of future meetings and ongoing communication with wider stakeholders.

This was an excellent first meeting of the partnership board as the UK NSC and NHS England move forward on this important project. We will keep stakeholders updated on activities with the SMA ISE via this blog.

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The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there’s no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email

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