SMA Ireland says urgent action needed as new research also shows four out of five adults support the expansion of newborn screening.
Ireland is lagging behind its European peers in newborn screening, according to new research released by Charles River Associates (CRA). The research shows that while the current heel prick test in Ireland screens fully for only 8 diseases, other European countries screen for more than 30.
Charles River Associates recently reviewed progress on newborn heel prick testing in Europe, ranking Ireland just 23rd out of over 30 European countries. This fall in the rankings highlights Ireland's alarming decline in comparison to its European counterparts since November 2022, when Ireland held 21st position. Italy remains in pole position across Europe, currently screening for 48 diseases followed by Austria at 31 and Poland and Portugal at 29.
Patient advocacy group SMA Ireland is leading the charge to accelerate the expansion of the heel prick test in Ireland. It is calling for urgent action, as a timely diagnosis for rare conditions like spinal muscular atrophy (SMA) is critical.
SMA Ireland’s effort is backed by emphatic support from the Irish public. A recent Ipsos survey revealed that an overwhelming 86% of Irish adults are in favour of expanding the number of diseases included in the heel prick test.
The National Screening Advisory Committee (NSAC) took a positive step in December 2022, recommending a Health Technology Assessment (HTA) of SMA by the Health Information and Quality Authority (HIQA). However, there is no insight into how long this process may take nor how quickly testing would be implemented, if and when the NSAC ultimately decides to recommend SMA for inclusion.
Jonathan O’Grady, Co-founder of SMA Ireland says: “We appreciate the NSAC's decision to recommend a HTA of SMA for the heel prick test, acknowledging the significance of early SMA detection for timely treatment access. However, we remain concerned about the uncertain implementation timeline. While it is essential to swiftly conclude the HTA, the provision of necessary resources to ensure prompt test implementation is equally important. 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. Every day counts for those affected by SMA."
SMA is a rare but devastating genetic disease that causes severe muscle degeneration and can lead to death. Symptoms usually appear when babies are around 3-4 months old, at which point irreversible damage to the nerves responsible for muscle function may have occurred. This results in difficulties with eating, moving, and breathing.
When symptoms arise, infants must undergo extensive testing to rule out other diseases, causing further delays in receiving crucial treatment. Early diagnosis and intervention are essential to stop degeneration and improve the lives of affected children and their families. Without treatment and ventilatory support, 90% of infants with the most severe form of SMA do not survive beyond the age of 2. However, there are treatment options, including gene therapy, available for babies with SMA.
Delays in implementation are also affecting another rare and devastating genetic disease. Although Minister for Health Stephen Donnelly approved the inclusion of Severe Combined Immunodeficiency (SCID) to the National Newborn Bloodspot Screening (NBS) Programme in January 2023, Irish newborns are still not fully screened for this condition.
Vicky McGrath, Chief Executive of Rare Diseases Ireland says: “Ireland is dropping down the rankings for Newborn Bloodspot Screening. This is very worrying. Almost 4 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.”
SCID comprises a group of rare genetic conditions where affected infants are born without a functioning immune system. Without early diagnosis and appropriate treatment, SCID is almost uniformly fatal in the first year of life.
SMA Ireland is an independent organisation. This activity is supported by Novartis Ireland.
Ireland is lagging behind its European peers in newborn screening, according to new research released by Charles River Associates (CRA). The research shows that while the current heel prick test in Ireland screens fully for only 8 diseases, other European countries screen for more than 30.
Charles River Associates recently reviewed progress on newborn heel prick testing in Europe, ranking Ireland just 23rd out of over 30 European countries. This fall in the rankings highlights Ireland's alarming decline in comparison to its European counterparts since November 2022, when Ireland held 21st position. Italy remains in pole position across Europe, currently screening for 48 diseases followed by Austria at 31 and Poland and Portugal at 29.
Patient advocacy group SMA Ireland is leading the charge to accelerate the expansion of the heel prick test in Ireland. It is calling for urgent action, as a timely diagnosis for rare conditions like spinal muscular atrophy (SMA) is critical.
SMA Ireland’s effort is backed by emphatic support from the Irish public. A recent Ipsos survey revealed that an overwhelming 86% of Irish adults are in favour of expanding the number of diseases included in the heel prick test.
The National Screening Advisory Committee (NSAC) took a positive step in December 2022, recommending a Health Technology Assessment (HTA) of SMA by the Health Information and Quality Authority (HIQA). However, there is no insight into how long this process may take nor how quickly testing would be implemented, if and when the NSAC ultimately decides to recommend SMA for inclusion.
Jonathan O’Grady, Co-founder of SMA Ireland says: “We appreciate the NSAC's decision to recommend a HTA of SMA for the heel prick test, acknowledging the significance of early SMA detection for timely treatment access. However, we remain concerned about the uncertain implementation timeline. While it is essential to swiftly conclude the HTA, the provision of necessary resources to ensure prompt test implementation is equally important. 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. Every day counts for those affected by SMA."
SMA is a rare but devastating genetic disease that causes severe muscle degeneration and can lead to death. Symptoms usually appear when babies are around 3-4 months old, at which point irreversible damage to the nerves responsible for muscle function may have occurred. This results in difficulties with eating, moving, and breathing.
When symptoms arise, infants must undergo extensive testing to rule out other diseases, causing further delays in receiving crucial treatment. Early diagnosis and intervention are essential to stop degeneration and improve the lives of affected children and their families. Without treatment and ventilatory support, 90% of infants with the most severe form of SMA do not survive beyond the age of 2. However, there are treatment options, including gene therapy, available for babies with SMA.
Delays in implementation are also affecting another rare and devastating genetic disease. Although Minister for Health Stephen Donnelly approved the inclusion of Severe Combined Immunodeficiency (SCID) to the National Newborn Bloodspot Screening (NBS) Programme in January 2023, Irish newborns are still not fully screened for this condition.
Vicky McGrath, Chief Executive of Rare Diseases Ireland says: “Ireland is dropping down the rankings for Newborn Bloodspot Screening. This is very worrying. Almost 4 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.”
SCID comprises a group of rare genetic conditions where affected infants are born without a functioning immune system. Without early diagnosis and appropriate treatment, SCID is almost uniformly fatal in the first year of life.
SMA Ireland is an independent organisation. This activity is supported by Novartis Ireland.
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