International Neonatal Screening Day, 28 June
July 18th, 2023
International Neonatal Screening Day took place on 28 June. Currently available scientific evidence from world-wide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life changing and even lifesaving.
Research by Charles River Associates (CRA) recently showed that Ireland is lagging behind its European peers in the screening of newborn babies. Ireland is screening fully for only eight conditions in newborns via the heel prick test, while other European countries screen for more than 30. Ireland ranks 23rd out of over 30 European countries after falling from 21st place in the past six months. Although Severe Combined Immunodeficiency (SCID) was approved for inclusion last December, it still hasn’t been implemented. The lag in implementation of testing after approval is worrying as there is a risk some children will miss out on an early diagnosis and treatment that can be life-changing and sometimes lifesaving, when started before symptoms develop.
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular condition affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). The age at which SMA symptoms begin roughly correlate with the degree to which motor function is affected; that is, the earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1).
With the development of treatment for SMA, which can be life changing for those detected prior to symptoms developing, MDI has been advocating for SMA to be added to the heel prick test for newborn babies in Ireland. Long term data for one of these treatments Evrysdi® (risdiplam), was released the end of June, confirm the long-term efficacy and safety of Evrysdi in children with Type 1 SMA. Click here to read Roche pharmaceuticals media release.
In December 2022, Ireland’s National Screening Advisory Committee (NSAC) recommended a Health Technology Assessment (HTA) of SMA by the Health Information and Quality Authority (HIQA) with a view to potentially recommending the disease for inclusion in the heel prick test. A decision should be made in the coming months. Testing for SMA in newborns has already been approved in 15 EU countries and MDI are hopefully that it will be approved in Ireland. MDI continues to advocate for its approval and the subsequent implementation of testing in a timely manner.
In 2021, MDI also submitted an application to NSAC for Duchenne muscular dystrophy to be assessed as part of their review process for inclusion in the heel prick test programme.
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