UK NSC review calls for trial period to gather more evidence on whether testing for rare-inherited condition should be introduced.
Following a review of the evidence, the independent expert screening committee recommends that screening for severe combined immunodeficiency (SCID) should be tried for a period of time in the NHS.
SCID refers to a number of rare inherited conditions which affect the development of a baby’s white blood cells – these are an important part of the immune system and make it difficult for babies to fight infections. Around 15 to 25 babies are born with the condition every year in the UK. The treatment is a bone marrow transplant, which can repair the damaged immune system.
The trial period will allow the committee to gather information about the practicalities and likely effect of screening before a final recommendation is made on whether to include SCID in the NHS newborn bloodspot screening programme.
Screening, as part of the newborn blood spot screening programme, would look for babies with low numbers of white blood cells as a sign that they may have SCID, but the independent committee found that more evidence is required on whether screening for the condition would do more good than harm, as it is not clear:
- how many babies may be diagnosed with having the condition when they do not (false positives)
- what care and treatment to offer babies with other conditions that cause low numbers of white blood cells
Professor Anne Mackie, Director of Programmes for the UK National Screening Committee (UK NSC), said:
There is still uncertainty whether screening for SCID would lead to babies who are well being diagnosed with the condition and receiving unnecessary treatment. It’s also unclear what would be the best care and treatment to offer babies who don’t have SCID, but are found to have other immune deficiency conditions.
We need to find out if screening for SCID would provide overall benefits or do more harm by falsely diagnosing those without the condition. That is why the committee has recommended screening over a trial-period which will help them decide whether NHS screening for SCID should be recommended.