Rare Diseases Ireland (RDI) has urged the Irish government to double the number of diseases screened for in the newborn bloodspot screening (NBS) program
Currently, nine diseases are screened for in a newborn in Ireland despite the European average being 18.
The call for an expansion on this was made during a meeting with members of the Oireachtas on June 25th.
The heel prick test, administered by the HSE National Newborn Bloodspot Screening Programme (NNBSP), involves taking a small blood sample from a newborn’s heel between 72 and 120 hours after birth.
This test is critical for the early detection of serious medical conditions and rare diseases.
Currently, the NBS screens for nine rare but severe diseases, enabling early diagnosis and treatment, which significantly enhances health outcomes for affected infants.
Approximately 120 babies are diagnosed annually with one of these conditions through the NNBSP.
During the meeting, it was highlighted that Ireland lags behind most European countries in the number of diseases screened in newborns.
Countries such as Austria, Italy, Portugal, and Russia screen for at least 30 conditions, while others, including Slovakia, Poland, and Germany, screen for a minimum of 20.
RDI stressed that expanding the NBS could lead to early diagnosis and treatment for over 200 infants annually in Ireland, improving their health outcomes and quality of life.
Vicky McGrath, CEO of RDI, pointed out that only one new disease has been added to Ireland’s screening program in the past five years.
Ms. McGrath noted that while the National Screening Advisory Committee (NSAC) has recommended adding three new tests to the NBS and is assessing an additional 34 diseases, inadequate resources at the HSE hinder expansion efforts.
She mentioned that Health Minister Stephen Donnelly approved the inclusion of severe combined immunodeficiency (SCID) in January 2023, with recruitment for implementation now possible following the lifting of the HSE recruitment moratorium.
SCID, which affects one to two infants annually in Ireland, is typically fatal in infancy without treatment. Early detection and treatment through bone marrow transplant or gene therapy can save lives.
Another condition recommended for inclusion is spinal muscular atrophy (SMA), affecting six to seven children annually. SMA is treatable with early gene therapy, which prevents permanent damage.
Ms. McGrath highlighted that many of the 34 diseases under review are already included in screening programs across Europe. She criticised the lengthy review process of the NSAC, which can take up to 18 months per disease, as wasteful and detrimental to newborns in Ireland.
RDI’s Get Rare Aware campaign also emphasised the delays in diagnosing rare diseases in Ireland.
According to research from Rare Barometer, the average time from the first symptoms to a confirmed diagnosis is 6.1 years in Ireland, compared to the European average of 4.7 years.
Ms. McGrath called on legislators to align Ireland’s heel prick test with European standards. She emphasised that Irish newborns deserve early access to transformative therapies, empowering families to provide optimal care.
“The government must act now to expand newborn screening and transform the lives of many more babies born with rare diseases in Ireland today, tomorrow, and into the future,” she concluded.
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