SMA Ireland urges the expansion of newborn screening in Ireland, as timely diagnosis for rare conditions like spinal muscular atrophy is crucial
Ireland is falling behind its European counterparts in the heel prick test for newborns, according to new research from Charles River Associates (CRA).
Ireland’s heel prick test screens for only eight diseases, but other European countries screen for more than 30. Italy leads the way, screening for 48 diseases, while Austria screens for 31, and Poland and Portugal for 29.
SMA Ireland, a patient advocacy group, is calling for urgent action to expand newborn screening in Ireland since timely diagnosis for rare conditions like spinal muscular atrophy (SMA) is critical.
An Ipsos survey showed that 86 per cent of Irish adults support the expansion of the number of diseases included in the heel prick test.
The National Screening Advisory Committee has recommended a Health Technology Assessment (HTA) of SMA by the Health Information and Quality Authority, but there is no insight into the timeline for implementation.
Approximately six infants are born with SMA in Ireland each year, and early detection is essential to stop muscle degeneration and improve the lives of affected babies and their families.
Without treatment and ventilatory support, 90 per cent of infants with the most severe form of SMA do not survive beyond the age of two.
Severe Combined Immunodeficiency (SCID) also continues to affect another rare and devastating genetic disease in Ireland.
The Minister for Health, Stephen Donnelly TD, approved the inclusion of SCID in the National Newborn Bloodspot Screening (NBS) Programme in January 2023.
However, Irish newborns are yet to undergo complete screening for this condition. Without early diagnosis and appropriate treatment, SCID is almost uniformly fatal in the first year of life.
SMA Ireland is an independent organisation, with Novartis Ireland supporting its efforts.
Rare Diseases Ireland (RDI), the national alliance of voluntary groups representing people affected by or at risk of developing a rare condition, says that Ireland is dropping down the rankings for newborn bloodspot screening.
Vicky McGrath, CEO of Rare Diseases Ireland said: “Ireland is dropping down the rankings for Newborn Bloodspot Screening. This is very worrying. Almost four years following the establishment of the National Screening Advisory Committee, only one test, ADA-SCID, has been added to the NBS panel.
“We are still waiting for full screening of SCID to be implemented, in spite of the Minister’s recommendation to do so last January. Delays adding tests to the NBS panel mean delayed diagnosis and delayed access to potentially lifesaving and curative treatments.”
Almost four years after the establishment of the National Screening Advisory Committee, only one test, ADA-SCID, has been added to the NBS panel. Delayed diagnosis and delayed access to potentially lifesaving and curative treatments result from delays in adding more tests to the NBS panel.