Public Health England (PHE), the UK National Screening Committee (UK NSC) and NHS England and NHS Improvement (NHSEI) today (6 September 2021) launch an evaluation of newborn blood spot screening for severe combined immunodeficiency (SCID) in England.
An evaluation will determine if screening for SCID will work as well in England as it has in other countries, with different populations and healthcare systems.
The evaluation will initially run for 2 years, covering around two-thirds of the newborn population of England. Screening will continue for a third year while the results from the evaluation are analysed.
The UK NSC will then make a definitive recommendation about whether newborn screening for SCID should become part of the NHS Newborn Blood Spot (NBS) Screening Programme in England.
Planning for the SCID evaluation has been complex and has involved NHS colleagues, commissioners and providers.
There are too many people and organisations to thank individually here. This has been a massive piece of work involving and relying on a huge range of people and organisations, without which it would simply not be possible. Thank you.
I would like to say a special thank you to Rebecca Nightingale for sharing her story with us.
And I would urge you to take a moment to watch Rebecca’s short video about the devastating effects this condition can have on families, and why this evaluation is so important.
SCID is a group of rare conditions that affect the immune system and make it very hard for a baby to fight off common infections. Without treatment, babies with SCID usually die before they reach a year of age.
About 1 in 40,000 babies born in England has SCID (about 14 babies a year). About a third of these babies are diagnosed because another member of their family has SCID. The remainder are usually diagnosed when they become ill. This can mean they are exposed to potentially fatal infections for longer before starting treatment.
Early diagnosis also means treatment for SCID (a bone marrow transplant) is more likely to be successful and the baby spends less time being ill, or in hospital having tests.
In areas taking part in the evaluation, screening for SCID will be offered alongside the 9 other newborn blood spot conditions using the same blood spot sample.
The areas included in the evaluation are those that send their newborn blood spot samples to laboratories in:
- Great Ormond Street Hospital (GOSH), London
- South East Thames
Midwives will tell parents and carers if screening for SCID is being offered in their area.
Babies with a higher chance screening result for SCID will be referred promptly to regional immunology services for diagnostic tests. Diagnostic tests will indicate if the baby:
- has SCID
- has another condition affecting the immune system
- does not have any condition and can be discharged
We’ve launched new resources to support parents and healthcare professionals during the SCID evaluation. It has been a thorough process involving careful research and development. We have sought the views of professionals and public, and made lots of changes with their help.
A big thank you again to everyone who volunteered their time to help make these resources useful and informative.
There is new parent and carer information on SCID which should be provided alongside Screening tests for you and your baby in SCID screening areas. Translations are available and an easy read version will be published soon.
You can find all the evaluation resources on the existing newborn blood spot resources page.
Changes to BCG programme
One of the biggest challenges has been a necessary change to the neonatal BCG vaccination programme in England. This is because BCG can make the treatment for SCID more complicated.
From 1 September 2021, parents and carers will be offered the BCG vaccination for their baby (if eligible) at about 28 days of age – by which time SCID screening results will be available.
Babies born before 37 weeks
A review of the latest data from England and abroad showed that some babies born before 37 weeks who are healthy, but whose immune systems are not fully developed, may be referred unnecessarily for diagnostic testing for SCID.
To reduce this burden on families and health services, a small number of these babies will be offered a second screening test for SCID, before they leave hospital.
You can read more about the new pathway.
Data to inform the evaluation
Over the next 2 years, the evaluation team and the UK NSC will collect data from the evaluation to inform analysis.
Laboratories and immunology services will provide clinical and administrative data. The analysis is being supported by the School of Health and Related Research (ScHARR) at the University of Sheffield.
Researchers will also consider the emotional impact of screening for SCID on families. This is not just when a baby is diagnosed with SCID, but also the effect of false positives – when families are told their baby might have SCID, but they do not.
The aim is to follow up babies to their fifth birthday (where families agree to take part in research) to explore the longer-term effects of screening for SCID. This will include interviews with families.
Once more, I want to say a personal thank you to everyone who has worked so hard to get us to this point and to the NHS services who will help to deliver it and support families to make the best choices.
I’m delighted to see the evaluation launch today and will follow its progress with keen interest.
PHE Screening blog
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