Vicky McGrath
CEO, Rare Diseases Ireland
Newborn bloodspot screening, more commonly known as the ‘heel prick test,’ is designed to screen newborn babies for select rare diseases within the first 72 to 120 hours of life.
Screening at birth, before symptoms even arise, enables early diagnosis and allows for early intervention of conditions that, if left undiagnosed and untreated, would cause severe disability or death. The heel prick test ensures each affected child can live their healthiest and best life possible.
Heel prick test screening for rare diseases
The heel prick test started in Ireland in 1966. Ireland was one of the first countries in the world to have a national newborn bloodspot screening programme, with the introduction of a blood test to screen newborns for the rare metabolic disorder phenylketonuria (PKU). Currently, all newborns in Ireland are offered screening for nine rare (and serious) diseases that can be detected at birth, including PKU, cystic fibrosis, maple syrup urine disease and homocystinuria.
Sadly, Ireland’s leadership position with the heel prick test has not been maintained. We lag behind countries across Europe for the number of rare diseases included in the heel prick test panel. Ireland ranks just 23 out of over 30 European countries, according to research published by Charles River Associates. Italy screens for 48 diseases followed by Austria at 31 and Poland and Portugal at 29.
The heel prick test is one of the most successful public
health initiatives in Ireland, with a 99.9% uptake.
Testing for more rare diseases
There is overwhelming support among 86% of adults living in Ireland (Ipsos, February 2023) to expand the number of diseases included in the heel prick test. Yet, progress is slow. The National Screening Advisory Committee (NSAC) is working through a list of 35 rare diseases requested to be included in the heel prick test panel. One condition, severe combined immunodeficiency, has been recommended for addition by the NSAC, but it has not been fully implemented by the HSE. Worryingly, we are told that full implementation and further additions must wait until the new children’s hospital is open. When will that be?
The heel prick test is one of the most successful public health initiatives in Ireland, with a 99.9% uptake. Each year, the heel prick test identifies approximately 110 newborn babies in Ireland with one of the conditions included in the panel. Newborn screening offers an unparalleled opportunity to improve the quality of life of all newborns who test positive for the rare diseases included in the heel prick test. Adding more rare diseases to the heel prick test will transform and save more lives.
