The UK is to pilot an expansion of the national newborn screening programme, which detects rare genetic disorders via bloodspot screening of newborn babies.
 
Currently, the UK programme comprises just five conditions: phenylketonuria, congenital hypothyroidism, sickle cell anaemia, cystic fibrosis and medium chain acyl-CoA dehydrogenase deficiency (MCADD). The new one-year pilot scheme, which will test more than half of UK newborns,  will also screen for a further five conditions: maple syrup urine disease, homocystinuria, glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia.
 
Work by the PHG Foundation on these genetic metabolic disorders funded by the National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care, South Yorkshire (CLAHRC-SY) revealed that there was good evidence to support this expansion of newborn screening in the UK (see previous news). In particular, the 2010 report Expanded newborn screening showed that using the existing screening technology had the potential ‘to reduce death and severe disability caused by these conditions in a cost-effective manner’.
 
Chief Medical Officer for England Prof Dame Sally Davies said the pilot was a “fantastic step forward for the newborn screening programme” and would give the extra babies identified with serious disorders “the chance to live a long, healthy life".

Comment: Although the new disorders to be included in the pilot scheme will affect only a very small number of babies in total – perhaps detecting 20 or so each year in the pilot – early identification of affected children allows prompt intervention to keep them healthy, preventing death or the irreversible severe physical and learning disabilities that they would otherwise develop. If the pilot shows good results, the full national screening programme will probably be expanded in due course. 

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