Skip to content

Why We Are Advocating for Newborn Screening

Page last updated: 18th April 2024

Image shows white text on an orange background saying: Every month in the UK, 4 babies are born with 5q SMA"

The UK National Screening Committee (NSC) is responsible for assessing the evidence for national screening programmes and recommending which conditions should be screened for.

The NSC is working on developing an In-Service Evaluation (ISE) of newborn screening for SMA in the UK. They have set up the SMA / ISE Partnership to work on this.  SMA UK and the UK SMA Newborn Screening Alliance are active members of the partnership. Read more on all this in the tabs below.

When a baby is born, they have a series of tests in their first 6 to 8 weeks after birth. This is to test for some rare conditions so that the baby can receive the most timely and effective treatment possible.

Read more in Genetic Alliance UK’s Information Sheet >

In the last three years, the NHS has revolutionised care for children, young people and adults who have SMA by securing and funding access to three ground-breaking treatments. There is now clear evidence that early diagnosis and treatment of SMA leads to better outcomes.

Every month in the UK, 4 babies are born with 5q SMA. Early detection of the condition is critical for ensuring that babies born with the condition can receive the necessary treatments and care which will stop the devastating disease progression.

Many countries across the world already have newborn screening for SMA. In European countries,
70% have newborn screening. This includes the Ukraine. Recently Switzerland approved a nationwide pilot. Luxembourg, Slovakia and Greece all have plans for 2024. All these countries have recognised the positive impact screening can make on the lives of so many.

An important ‘real-world’ research paper was published on 8th April 2024 confirming the ‘Clinical Effectiveness of Newborn Screening for SMA’. This evidence has been distributed to all members of the ISE/SMA Partnership.

In June 2023, the UK NSC committee endorsed 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 screening for SMA in real world NHS services in the UK

The first meeting of the SMA ISE partnership board, chaired by Prof Anne Mackie, who leads the UK NSC secretariat, was set up in January 2024.

Three expert sub-groups report to that board: a clinical pathway group, a data and methodology group and a laboratory group.

SMA UK and other patient representatives and clinical experts from across the UK are involved in these groups.

The Partnership issues regular blogs reporting on this work. You can follow the links for the most recent ones below or sign up for them directly.

8th April 2024: Partnership board updated on progress with SMA screening evidence review

13th March 2024: SMA ISE clinical pathway expert sub-group meets for first time

Sign up to receive these blogs directly >

SMA UK and MDUK have jointly secured funding for, and are key members of, the UK SMA Newborn Screening Alliance.

Founded in 2020, it is chaired and led by Professor Laurent Servais, with Project Manager Alice Fabre. The Alliance is made up of clinicians, patient groups and other stakeholders who are all working to ensure that newborn screening for SMA comes to fruition in the UK.

Its mission is too achieve the earliest possible introduction of newborn screening for SMA in the UK to deliver the best outcomes from treatment and reduce future healthcare costs. Members of the Alliance are now taking part in the ISE/SMA Partnership.

For more information about the UK SMA NBS Alliance click here >

This research study, led by Professor Laurent Servais, is to see if newborns in the UK can be screened for SMA and therefore start treatment before symptoms develop. The study findings will help with the National Screening Committee’s decision on whether to include SMA as part of the standard UK Newborn Screening. As of March 2024, the study has already screened more than 17,000 babies.

Find out more >

Timeline of Key Advocacy Work for NBS for SMA

We have been actively advocating for newborn screening (NBS) for SMA since 2013. We were founding members of the UK SMA NBS Alliance in 2020. We have continued advocating through the Alliance and with other partners, and have worked with many members of the SMA Community to make the public aware of this urgent need. Many articles have appeared in national media.

Our focus now is to work with the ISE / SMA Partnership to set up the best possible In-Service Evaluation (ISE) of NBS for SMA in the UK as quickly as possible.

5th- 9th February: Every Moment Matters Westminster Hall Exhibition

Catching the eye of the Westminster Hall Advisory Group, the Every Moment Matters report was featured in a Westminster Hall Exhibition. Westminster Hall is a thoroughfare for all MPs and Ministers working in the Houses of Parliament, so it was a fantastic opportunity to raise awareness of the desperate need to speed up the decision to implement newborn screening for SMA in the UK.

SMA UK’s CEO Giles Lomax, and the families living with SMA who were featured in the report attended the opening ceremony, and met with MPs, introducing them to the children living with SMA and sharing their stories.

Image shows Giles, CEO, and two families of children who have SMA in their wheelchairs

8th November: Every Moment Matters campaign report launched

Every Moment Matters: Implementing newborn screening for Spinal Muscular Atrophy in the UK

This policy report was launched today at a parliamentary roundtable meeting sponsored by Liz Twist (Labour MP for Blaydon and Chair of the All-Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions). The report was informed by input from experts across the SMA and rare disease community. It was commissioned by Novartis Pharmaceuticals and supported by SMA UK.

The report explores the opportunities for supporting the best possible outcomes for all those affected by SMA, and how doing so can contribute to the UK’s wider rare disease and life science ambitions.
SMA UK, coordinated the collection of several family case studies for the report. These show the impact late diagnosis and treatment has on the lives of children living with SMA and their families. There is also a statement included from SMA UK’s CEO Giles Lomax.

Today’s meeting was attended by a number of families from the SMA Community; it was opened by Giles. There were presentations from expert speakers who spoke about the current clinical pathway for people with SMA; and progress that has been made to date towards the introduction of newborn screening. There was a group discussion, where attendees shared their perspectives on how the SMA, and rare disease community, can support the urgent introduction and implementation of newborn screening for SMA across the UK.

Read the report here >

4th August:
In-Service Evaluation Planned for NBS >

June – August
Petition to introduce NBS in the UK gained 11,718 signatories. The Government responded and confirmed that this work will take place in 2021/22.

26th March
European Newborn Screening Alliance launches Whitepaper on the need for NBS programmes to include SMA.

23rd July:
Genetic Alliance UK launches ‘Fixing the Present, Building the Future – NBS for Rare Conditions’. SMA UK was a participant in the workshop that led to this report.

18th February:
UK National Screening Committee does not recommend carrier or NBS for SMA > 

SMA UK supports Dr Felicity Boardman’s ‘Imagining Futures’ Research into views of NBS for SMA held by people affected by SMA. There are 337 respondents and 36 in depth interviews.

Research Summary >

Imagining Futures – ongoing work