Calls to expand heel prick test as Ireland slips down European rankings

Vivienne, David, Luke, Liz, and Sean Ryan from Meath. Luke and Sean have spinal muscular atrophy, however, Sean was diagnosed earlier, allowing for more effective treatment. Picture: Gareth Chaney

Ireland has dropped down a ranking of European countries based on availability of newborn screening or heel prick tests, now lying 23 out of 32 countries, new research shows.

Advocates working with families affected by rare diseases including SMA (spinal muscular atrophy) and SCID (severe combined immunodeficiency) have called for changes in how conditions are assessed in Ireland.

Ireland fully screens eight diseases, one condition among the SCID cluster, and planning for screening all SCID conditions has started. 

However, analysis by global consulting firm Charles River Associates shows this rises to 48 in Italy and 31 in Austria as well as 29 in Poland and Portugal.

When this analysis was previously conducted six months ago, Ireland lay 21 out of the 32 states analysed. Ireland is among 13 countries screening for 10 or fewer conditions including the UK (9).

Timely diagnosis critical

SMA Ireland called for “urgent action”, saying timely diagnosis is critical.

Co-founder Jonathan O’Grady said they welcomed a recent recommendation for Hiqa to carry out a health technology assessment (HTA) around adding SMA.

“While it is essential to swiftly conclude the HTA, the provision of necessary resources to ensure prompt test implementation is equally important,” he said.

“With approximately six infants born with SMA in Ireland each year, we cannot afford to wait. We strongly urge a timely process and immediate implementation."

The Ryans in Co Meath have spoken of the difference early diagnosis made to their sons who both have SMA, a rare genetic condition causing severe muscle degeneration.

Luke, four, needs round-the-clock care while Sean, two, who received early innovative treatment, can walk and run.

SCID is a group of rare genetic conditions including ADA-SCID, where babies are born without a functioning immune system.

Rare Diseases Ireland chief executive Vicky McGrath said it was “worrying” to see Ireland drop down these rankings.

“Almost four years following the establishment of the National Screening Advisory Committee, only one test, ADA-SCID, has been added to the newborn screening panel,” she said.

“We are still waiting for full screening of SCID to be implemented, in spite of the minister’s [Stephen Donnelly] recommendation to do so last January. Delays adding tests to the panel mean delayed diagnosis and delayed access to potentially lifesaving and curative treatments.” 

The committee's annual report, published last week, states Sickle Cell Disease should be considered for more in-depth assessment.