Newborn screening plays an important role in aiding the identification of babies at risk of developing rare or genetic conditions, allowing diagnosis before symptoms develop. Such early detection and intervention is particularly important for rare conditions of early childhood, many of which are progressive and irreversible. Early detection provides an opportunity for stabilising treatment before the deterioration in health or development of a child occurs, potentially preventing the most serious effects of these conditions, which can include severe disability and death. Early diagnosis of an affected child also offers the added benefit of supporting family planning, providing couples with the opportunity to exercise reproductive choices if they wish to. The Newborn Screening Programme in Scotland is not fulfilling its potential. Scotland currently screens for just nine conditions. This is far fewer than the current tandem mass spectrometry methods used can detect and far fewer than other comparable high income countries. Iceland,for example, screens for 47 conditions, the Netherlands for 34 and Norway for 28. Decisions on what conditions are screened for in Scotland are based on the recommendations of the UK National Screening Committee (UKNSC), although it is important to note that Scotland is not bound by these recommendations and could choose to go further. A comprehensive screening programme in Scotland, with the high identification and diagnosis rates it would have the potential to deliver, could contribute vital information to the Congenital Anomalies and Rare Disease Registration and Information Service for Scotland (CARDRISS). This will allow our understanding of rare conditions to grow, facilitating research that can lead to future treatments. Some of the newest innovative treatments could not have been developed in Scotland, because a screening programme is necessary to recruit children before symptoms arise, for example, the newest gene therapy for spinal muscular atrophy. It is for the Scottish Government to make decisions on how the Newborn Screening Programme is delivered in Scotland. The Health and Sport Committee should consider how the Newborn Screening Programme can be developed and expanded in Scotland to improve the detection of rare conditions.
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