Two more rare diseases added to heel prick test
Babies born in CUMH and maternity hospitals across the country will now be tested for another two rare diseases during the heel prick test, it was announced this week.
On Monday, Minister for Health Jennifer Carroll MacNeill TD announced that testing for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) has now commenced through the National Newborn Bloodspot Screening Programme, more commonly known as the heel prick test.
From Monday, 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 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.”
She added: “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.”
The health minister added: “Moving forward, I am pleased to confirm that the National Screening Advisory Committee (NSAC) 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 6 to 7 babies born with SMA and an estimated 1 to 2 babies born with SCID each year. This early detection allows for earlier treatment, leading to better outcomes for babies with these conditions.”
The Director of SMA Ireland, 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.”
Reacting to the news, Fianna Fáil MEP Billy Kelleher said while the addition of two more diseases to the heel prick test for newborn babies is very welcome, a general reform of neonatal screening for rare diseases in Ireland and across the European Union is desperately needed.
Kelleher, the lead negotiator for the Renew Europe Group on the European Parliament’s Own Legislative Initiative on the Rare Diseases Action Plan, said: “This is, of course, great news and sees Ireland increasing the number of diseases being tested for from 9 to 11. However, we need to be honest with ourselves – we are laggards compared to other EU member states. Italy for example tests for over 50 diseases and syndromes,
“In my work on the Rare Diseases Action Plan, I have tabled amendments designed to set gold-standard, pan-European requirements on the number of diseases and syndromes tested for at birth. Ireland should be a global leader. However, that requires us to be ambitious with newborn screening.
“I believe Ireland’s EU Presidency later this year is an ideal time to show that ambitious and to lead the EU into a better time for children and adults living with rare diseases,” concluded the Ireland South MEP.