Rare immune disorder added to newborn screening programme
Health Minister Jonathan Coleman says that from next year babies will be tested for Severe Combined Immunodeficiency (SCID) at birth.
“SCID is a group of rare diseases caused by genetic defects that prevent normal development of cells essential for immunity,” says Dr Coleman.
“The number of babies born with SCID is difficult to quantify as children often die before diagnosis. Most babies with SCID appear healthy at birth and aren’t diagnosed until six to nine months of age. If untreated, it can be fatal within the first year of life.
“Early detection of this rare and life-threatening disorder through the newborn metabolic screening programme will enable early treatment with stem cell transplants, greatly improving the health outcomes of babies with SCID.”
The decision to add SCID to the dried blood spot sample, which tests for more than 20 other rare metabolic conditions, comes after a request from immunology clinicians. The test is due to be implemented by mid-2017.
Screening for SCID is in line with a number of countries who are considering or have started screening for SCID.
Each year the newborn metabolic screening programme screens around 60,000 babies and identifies around 45 cases of rare disorders.
The programme is one of the most successful in the world with more than 99 per cent of newborn babies taking part in screening.