Newborn screening

It can take a long time for someone living with a rare or genetic condition to be diagnosed. Our report Good Diagnosis: Improving the experiences of diagnosis for people with rare conditions explores this in more depth, but broadly speaking, an earlier diagnosis can help families access: 

• treatment or other clinical interventions to help address symptoms 
• supportive care for a child that may help them better manage the condition and improve their quality-of-life 
• timely information and advice to inform planning of future pregnancies 

For some genetic and rare conditions, there are treatments available on the NHS that may be most effective when administered before symptoms show. Newborn screening can help healthcare professionals to detect which children may have or be at higher risk of developing a condition.

It’s absolutely crazy that we don’t have newborn screening [for spinal muscular atrophy] in the UK. If we can find kids like Ezra when they’re just born, and get this new drug into them then our lives would be completely different. I think about it a lot, and it just feels completely unfair.

Portia Thorman, SMA UK advocacy lead and mother of Ezra who lives with SMA.

See our award winning short film highlighting the importance of newborn screening for spinal muscular atrophy (SMA):

Bronze 2023 Lens Award, Shortlisted for the 2023 Smiley Charity Film Awards. 

In September 2025, the Scottish Government announced it will begin newborn screening for SMA in early 2026. Initially running as a two-year pilot, the test will be offered to all newborns in Scotland. For updates on the status of the in-service evaluation for SMA in England, please see the website of our member organisation, SMA UK. For more information on the value of newborn screening, read our newborn screening fact sheet.

The UK National Screening Committee (UK NSC) is responsible for assessing the evidence for screening and recommending which conditions we should screen for in the UK. 

Since May 2014, the UK NSC has only recommended one condition be added to our NHS Newborn Blood Spot Screening Programme. This was in 2022 for tyrosinaemia type 1, which has not yet been implemented. This means the UK currently only screens for nine conditions. The NHS website has information on which conditions the blood spot test covers.

The UK screens for far fewer conditions than other countries. International collaboration and comparison is really helpful, as it allows us to see how other countries approach screening. There are some nuances to making these comparisons, especially as some countries are in the process of rapidly expanding their programmes. However, this helps us see that the UK is out of step with international best practice on newborn screening:

• Countries in the European Union recommend screening for an average of 19 conditions (as of May 2025)
• Australia, Canada, Japan, New Zealand and the US all routinely screen for over 20 conditions
• At least 27 countries list more conditions than the UK in their screening recommendations 

This disparity means that families in the UK are missing out on the opportunity to have their child diagnosed and treated earlier. For these reasons, driving improvements in newborn screening is a key part of Genetic Alliance UK’s five year strategy and you can read our most recent report on newborn screening titled Time to decide: International approaches to newborn screening decision-making.

More information is available on the official blog of the UK National Screening Committee. 

Over recent years, we’ve driven real progress in pushing the UK to meet better standards in screening. 

• 2019: we published our patient charter on newborn screening: Fixing the present, building the future. The charter described the European landscape for newborn blood spot screening and the views of our member organisations, resulting in seven recommendations on how we can fix our current system to build for the future.
• 2022: we published a report Good diagnosis: Improving the experiences of diagnosis for people with rare conditions which focused on broader challenges around the ‘diagnostic odyssey’ for people living with genetic and rare conditions, and highlighted why newborn screening is a key enabler for earlier diagnosis for some conditions.
• 2023-2024: We continued to support our member organisations in their advocacy for improvements in newborn screening. This included producing a fact sheet on newborn screening and parliamentary briefings to support our ongoing policy and public affairs work with national governments.
• 2025: We published our report Time to decide: International approaches to newborn screening decision-making where we identified learnings from 14 countries on how they make decisions for newborn screening, and made recommendations in five areas on how we might drive progress in the UK:

Genetic Alliance UK’s representation on the UK National Screening Committee’s (UK NSC) Blood Spot Task Group and the UK NSC Partnership Board for an in-service evaluation for spinal muscular atrophy (SMA) ensures that the views of our community are central to any changes. 

We also work closely with Genomics England on the Generation Study, a research project to examine the value of using whole genome sequencing for newborn screening. Genetic Alliance UK received funding for input on the study’s development and is part of the research consortium delivering the independent evaluation of the Generation Study.

Genetic Alliance UK is a member of the Newborn Screening Collaborative which is chaired by the MPS Society. Through the collaborative, we campaign for changes to the current decision-making process around newborn screening. 

Internationally, we collaborate with EURORDIS-Rare Diseases Europe through their working group on newborn screening. In 2021, The EURORDIS-Rare Diseases Europe newborn screening working group published a report outlining 11 principles for newborn screening. 

We are members of the Patient Advisory Group and the Newborn Screening Forum of Screen4Care, a European project that is also exploring the use of newborn screening using genomic sequencing, as well as looking at AI tools to examine health records to identify rare conditions. We are also members of the International Consortium on Newborn Sequencing (ICoNS) and the International Society for Neonatal Screening (ISNS).

One of the recommendations in our 2019 report Fixing the present, building the future was that a pilot of genomic sequencing for newborn screening was commissioned to assess the feasibility of newborn genome testing on the NHS.

We’re pleased to be now working closely with Genomics England on the Generation Study. This is an NHS-embedded research study which will explore the benefits, challenges and practicalities of sequencing and analysing the genomes of 100,000 newborns in England in order to be used as a screening tool on the NHS. 

The study began recruitment in October 2024 and a group of UK clinicians and scientists put together an initial list of more than 200 conditions for which newborn screening may be a valuable route to earlier diagnosis. 

We’re working with Genomics England to ensure that our member organisations are aware of this key research study as it has the potential to impact the individuals and families they support, as well as the wider genetic and rare community. We are also part of the research consortium led by University College London (UCL) that is delivering the independent evaluation of the Generation Study.

More information on the Generation Study can be found on Genomics England’s website. Genomics England also runs a podcast called ‘Behind the Genes’. 

Although the Generation Study is very exciting and is cause for optimism, it’s important to remember that it remains a research study. The number of conditions included in the study means that the study is a big step forward for newborn screening in the UK, and there is scope for this to be broadened as the study progresses. Whether or not specific individual conditions are on the first iteration of the list Genomics England’s website, the study is changing the discussion on the value of newborn screening.  

Genomics England is setting a new standard for collaboration and inclusion of the voice of our community in planning and decision-making around newborn screening. We hope that the independent evaluation of this project will demonstrate the value of engaging with the genetic and rare community, and that this learning can be taken forward into broader newborn screening policy development for the UK. More information on the independent evaluation of the Generation Study is on UCL’s webpage about this subject.

In July 2025, the UK Government launched Fit for the future: 10 Year Health Plan for England (the NHS 10-Year Plan for England). The announcement about genomic sequencing of newborns was very concise and made a broad commitment to provide genome testing to all babies born in England by 2035. Read the oral statement made by Wes Streeting, Secretary of State for Health and Social Care, announcing Fit for the Future: 10 Year Health Plan for England.

While Genetic Alliance UK welcomes this ambition, the plan published doesn’t specify what this information will be used for, or confirm if it’ll be used for newborn screening. For these reasons, Genetic Alliance UK is continuing to support the Generation Study as much as possible. The better the study, the better the evidence we will have to plan for the future.