SMA Newborn Screening Study

SMA Newborn Screening Study

Between 2023 and 2025 we conducting nearly 10,000 surveys and over 50 interviews with the public, healthcare professionals, the SMA community, and parents offered screening for SMA. This was to gather views on whether Spinal Muscular Atrophy should be added to the list of conditions that newborn babies are routinely screened for in the UK as part of the heel prick test (also known as the bloodspot, or Guthrie test).

The work came about because the UK National Screening Committee (UK NSC), the body who make recommendations to Government on screening policy, flagged a gap in the knowledge-base around how acceptable SMA screening is to different groups of people. The UK NSC are currently reviewing whether to recommend newborn screening for SMA. Assessing the acceptability of a screening programme is one of the key criteria they look at. The results, along with other forms of evidence, will assist the UK NSC in their decision-making.

We have completed our recruitment for participants from the general public, parents who are taking part in the SMA newborn screening pilot, people with SMA and their family members, and health care professionals. We would like to thank everyone who took part. Please check this page for updates as we will post details of our results when these become available.

Our first paper from the study was published in April 2026 (link to article).

Paper Summary Headlines:

Survey responses from 9,511 people, interviews with 56 people

90% of public, 99% of SMA community (parents of children with SMA and adults with SMA), 98% of parents of screened babies (Thames Valley pilot), and 97% of SMA healthcare professionals supported the introduction of SMA newborn screening.

Concerns included:

• the impact of diagnoses through NBS (the experience for parents of newborn babies who appear well is likely to be very different to the experience of parents who are are looking for a diagnosis in their unwell child).
• anxiety, including from treatment not being available for adult-onset SMA.

These concerns were not seen as barriers to starting screening, but consideration of them is needed, and high-quality support available for all who needs it.

NEWS - Our first paper from the study has been published in the European Journal of Human Genetics!! (click here to go to journal page)

Who is running the study?

The newborn screening study was led by Prof Felicity Boardman and Dr Corinna Clark at the University of Warwick.

We were supported and guided by an expert reference group, made up of SMA patient and charity representatives, health care professionals, and members of the public.

For one part of the research, we collaborated with the researchers who ran the first UK pilot of Newborn Screening for SMA (led by Prof Laurent Servais at the University of Oxford). This was so that we can include the views of parents approached to take part in the screening pilot (see Oxford Study webpage for more details).

The study was funded by Novartis and was been approved by the Biomedical & Scientific Research Ethics Committee (BRSEC)

Click here for info on (Survey now closed)

....Survey and information for parents taking part in SMA Screening Pilot

Survey to gather the views of parents who have been offered screening for SMA as part of the study “Population-based New-Born Screening of Spinal Muscular Atrophy to evaluate the uptake and feasibility in the UK context” being led by Prof Laurent Servais at Oxford University

Click here for info on (Survey now closed) ...Survey link and information for members of the general public

Members of the public interested in doing an interview with us

Click here for info on (Survey now closed)

...Survey link and information for people from the SMA Community

Survey link and information for members of the SMA community (people with SMA, family members of people with SMA) interested in doing an interview with us