From the DH media centre:
“More than 400,000 babies will be screened for debilitating, rare inherited conditions as part of a ground-breaking pilot to see if more rare illnesses can be identified early on and get babies the best treatment possible so they stand a good chance of leading long, happy lives.
Currently every baby born in the UK – around 700,000 a year – is tested for one of five illnesses, including cystic fibrosis and sickle cell.
The test – which is done through taking a pinprick of blood from the baby’s heel in their first week of life – will now be extended to include five more rare conditions in five pilot areas.
The new conditions that the pilots in Sheffield, Leeds, Manchester, Birmingham and some areas in London, will be screening for are:
• Maple syrup urine disease – 1 in 120,000 births
• Homocystinuria – 1 in every 100,000 births
• Glutaric acidaemia type 1 –1 in 100,000 births
• Isovaleric acidaemia – 1 in 100,000 births
• Long chain fatty acidaemia – 1 in 100,000 live births in the UK
The trial, which will run for one year from July 2012, will be funded by the National Institute of Health Research which is providing £600,000 to researchers based at Sheffield Children’s NHS Foundation Trust. The results of the trial will be evaluated after a year and results will be considered by the UK National Screening Committee.”
The current policy of testing for five illnesses was supported by cost-effectiveness analysis undertaken in HEDS (article here) and it is intended that the results of the pilot will be used in an updated model to assess the cost-effectiveness of screening for the additional five tests. National screening policies around the world for this class of disorder vary dramatically due to uncertainties around false positive rates, costs and benefits to infants, so the planned evaluation by HEDS will be the focus of much interest.
