Introduction of screening for severe combined immunodeficiency and spinal muscular atrophy

Testing for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) has now commenced through the national newborn bloodspot screening programme.

From today (Monday 13 April), all initial samples received for newborn bloodspot screening will be tested in the screening laboratory for SCID and SMA, bringing the total number of conditions screened for under the programme to 11.

Minister for Health Jennifer Carroll MacNeill said: “The addition of SCID and SMA to the national newborn bloodspot screening programme is a significant milestone and I know it will be very welcome news for families all over Ireland.”

“This programme enables us to detect rare but serious conditions which benefit from early intervention and lead to vastly improved outcomes for children.

“I want to acknowledge the time and expertise invested by staff from the HSE’s National Healthy Childhood Programme, the staff at the national newborn bloodspot screening laboratory in CHI Temple Street and other areas across the health service in completing what was a complex implementation process supported by my Department.

 “I am keenly aware of how difficult it is for parents, families and children who have received a diagnosis of a rare disease, and how challenging daily life can be for them.

“This is why I am committed to the further expansion of screening in Ireland in accordance with internationally accepted criteria and best practice, and in line with our Programme for Government commitments and our goals under the National Rare Disease Strategy, which I published last year.

“Moving forward, I am pleased to confirm that the national screening advisory committee is progressing work to consider additional expansions to screening and I look forward to receiving recommendations from the committee in due course.”

Dr Abigail Collins, HSE National Clinical Lead, Child Health Public Health, said the development will lead to better outcomes for babies born with SCID and SMA:

“This is a momentous day for the national newborn bloodspot screening programme, with the addition of SCID and SMA. Screening will help to identify an estimated six to seven babies born with SMA and an estimated one to two babies born with SCID each year. This early detection allows for earlier treatment, leading to better outcomes for babies with these conditions.”

Welcoming the announcement, the Director of SMA Ireland, Mr Jonathan O’Grady said:

“This is a truly historic day for all the families who have campaigned so tirelessly for the screening of babies born in Ireland for spinal muscular atrophy. The Temple Street laboratory team are to be particularly congratulated for their great efforts to see this test implemented. Early detection is critical with SMA and including it in the heel-prick test provides the opportunity of timely intervention, offering a more hopeful outlook for babies and their families.”