The NHS Newborn Blood Spot (NBS) Screening Programme prevents severe disability and death by detecting a number of rare but serious health conditions in newborns.
Healthcare professionals take blood spots using a heel prick device when babies are 5 days old. The blood spots are then tested for sickle cell disease, cystic fibrosis, congenital hypothyroidism and a number of inherited metabolic diseases.
The UK National Screening Committee (UK NSC) is working with experts and partner organisations to look at how to make it easier to develop evidence needed to make robust recommendations on the addition of more rare diseases to the NBS screening programme.
Today, the UK NSC is publishing an update on this work, which provides an outline of a project called EquipoISE. This is a proposed rolling multi-condition in-service evaluation (ISE) within the NBS screening programme.
Use the link below to download the report:
The aims of EquipoISE
ISEs in screening involve assessing new or modified screening programmes in real-world NHS settings to answer specific questions about the operation or effectiveness of a proposed screening test and pathway.
The main aim of EquipoISE would be to answer policy-relevant research questions that will allow the UK NSC to make recommendations on adding new conditions to the NBS programme. EquipoISE would:
- assess the most promising candidate rare conditions to add to the NBS programme
- explore whether and how genetic-based screening tests could be added into the programme
- generate more evidence on how children's outcomes are affected by genetic-based screening for different conditions
If the assessment of a candidate condition under EquipoISE is successful, then it could be rolled out formally as part of the national NBS screening programme.
Current uncertainties in screening for rare diseases
Around 1 in 17 people are affected by a rare disease, most of which develop in childhood. Many of the conditions are treatable if detected early enough, so using screening to detect them before symptoms develop can be extremely helpful.
However, for many diseases we do not yet have enough data on their natural history, prevalence or age of onset to know whether screening would be beneficial. We also do not know which biomarkers will reliably predict disease in newborns, which biomarkers might indicate benign disease, or how many children with a ‘positive’ screening result would go on to develop symptoms.
These uncertainties mean screening could incorrectly diagnose healthy babies, leading to unnecessary interventions, causing distress to families and placing pressure on health systems already supporting children with confirmed rare diseases.
Importance of evaluation in UK setting
There is wide international variation in NBS screening practice, so newborn screening varies considerably. It is very difficult to determine whether screening practice in another country would translate effectively to a UK setting.
The aim of EquipoISE would be to collect and analyse UK-specific data to support any future safe, evidence-based expansion of the NHS NBS Screening Programme in line with the UK NSC’s evidence review criteria, code of practice and ethical framework.
We will keep you informed about the project’s progress via this blog.
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