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Expanding screening

Medical screening helps to diagnose someone with a medical condition, or to identify if they’re more likely to develop a condition. There are many routes to screening for genetic and rare conditions, including during pregnancy and in newborns.

For example, every baby in the UK is offered newborn blood spot screening, known as the heel prick test, when they are five days old. The test involves taking a blood sample to see if a baby has one of nine rare but serious health conditions – soon to be ten with the addition of tyrosinemia type 1. Most babies won’t have one of these conditions but for the few who do, the benefits of screening are huge, as early detection and treatment can improve their health and prevent severe disability or even death.

The UK newborn blood spot screening programme tests for far fewer conditions than similar programmes in other countries. Over 20 European countries screen for more conditions through the heel prick test than the UK – most of these screen for over 20 conditions. 

Genetic Alliance UK promotes opportunities to expand UK screening programmes for genetic and rare conditions in line with international best practice.

It can take an extremely long time for a rare or genetic condition to be diagnosed in an individual. On average, it takes up to five years after first seeking medical attention for someone to receive the correct diagnosis for a rare condition and some may never receive a diagnosis.

Early diagnosis is very important in rare conditions and newborn screening can identify that a child will develop a rare or genetic disease before symptoms develop. Early diagnosis brings opportunities for earlier supportive care for a child and their family, better management of the condition and possibly even treatment for some conditions that might be most effective when administered before symptoms start. An early diagnosis also allows for the delivery of timely information to families and for the opportunity of choice and planning.  

It’s absolutely crazy that we don’t have newborn screening [for SMA] 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.

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

At Genetic Alliance UK, we promote opportunities to expand newborn and population screening programmes for genetic and rare conditions in the UK in line with international best practice.

For more information on the value of newborn screening, read our newborn screening fact sheet. 

International collaboration and comparison is really helpful, as it allows us to see how other countries approach screening. Through that comparison we can see that we are out of step with many other countries’ approaches. Newborn screening programmes in the UK test for far fewer conditions than programmes in other countries. 

  • In the UK, blood spot tests screen for 9 conditions – soon to be 10 with the recent addition of tyrosinemia type 1
  • More than 20 European countries screen for more conditions than the UK – most of these screen for over 20 conditions 
  • US blood spot tests screen for up to 50 conditions

These figures are taken from a peer-reviewed article in a medical journal, Loeber et al, ‘Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010’, International Journal of Neonatal Screening (2021).

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

Driving improvements in medical screening, including for newborns, is a core focus for Genetic Alliance UK. Over recent years, we’ve driven real progress in pushing the UK to meet better standards in screening:

In 2018 we published a report on newborn screening for rare conditions called Fixing the present, building the future. The report describes the current landscape for newborn bloodspot screening, setting out the views of people living with rare and genetic conditions on how we can fix our current system and makes recommendations to build for the future

We’re members of the Newborn Screening Collaborative, chaired by the MPS Society. Through the collaborative, we campaign for changes to the current decision-making process around newborn screening 

Genetic Alliance UK representation on the Blood Spot Task Group of the UK National Screening Committee ensures that the views of our community are central to any changes.

We also work closely with Genomics England on their Generation Study – a research project to examine the value of using whole genome sequencing for newborn babies as a screening tool.

 

Working across borders

Internationally, we collaborate with Eurordis – Rare Diseases Europe with their working group on newborn screening, which published 11 principles.

We are also working with Screen4Care which is a European Project also examining newborn screening using genome sequencing, as well as looking at AI tools to examine health records to identify rare conditions. 

One of the recommendations in our report Fixing the present, building the future was a pilot of genome sequencing in newborn screening on the NHS.

We’re pleased to be now working closely with Genomics England on their Generation Study which launched in 2023 – an NHS-embedded research study which will explore the benefits, challenges and practicalities of sequencing and analysing newborns’ genomes in order to be used as a screening tool on the NHS. The study will sequence and analyse the genomes of 100,000 newborn babies in the UK.

The list of conditions that will initially be screened for during the research study can be found on Genomics England’s website. 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. 

 

Genetic Alliance UK’s view on the Generation Study

Although the Generation Study is very exciting and is cause for optimism, it’s important to remember that this remains a research study. This announcement does not change anything about the future of newborn screening in the UK yet. However, the findings of the study really could. 

That is why Genetic Alliance UK is supporting this research study as much as possible. The better the study, the better the evidence we will have to plan for the future. 

The list itself is a big step forward for newborn screening in the UK. A group of UK clinicians and scientists have put together a list of conditions for which newborn screening may be a valuable route to early diagnosis, and the list is more than 200 conditions long. Whether or not specific individual conditions are on the list, this changes the potential scope of discussion of the value of newborn screening, and shows that the concept of valuable treatment can be a lot broader than it has been in the past.

This is the first iteration of the list, and there is scope for the list to be broadened as the study progresses. 

Genomics England is setting a new standard for collaboration and inclusion of the voice of the rare condition community in planning and decision-making around newborn screening. We hope that the 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.

 

Where can you find out more?

Genomics England’s YouTube channel has video guides on various subjects including information on the conditions included in the initial list. 

Genomics England also has a podcast, The G Word, and the October 2023 podcast is about the conditions that will be screened for as part of the Generation Study.