Five areas in England are to take part in a pilot project to introduce a number of new screening tests aimed at identifying illnesses in newborn babies.
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 by taking a pinprick of blood from the baby’s heel in its first week of life, will now be extended to include five more rare conditions in the five pilot areas.
As a result, more than 400,000 babies will be screened for debilitating, rare inherited conditions to see if more illnesses can be identified early on and get babies the best treatment possible so they stand a good chance of leading long, happy lives.
This pilot will gather evidence so we can understand whether offering tests for these conditions to a whole population is of overall benefit
The pilot sites in Sheffield, Leeds, Manchester, Birmingham and some parts of London, will screen for maple syrup urine disease, which affects one in 120,000 births; homocystinuria, which affects one in every 100,000 births; glutaric acidaemia type 1, which affects one in 100,000 births; isovaleric acidaemia, which is reported in one in every 100,000 births; and long chain fatty acidaemia, which affects one in 100,000 live births in the UK. These will be in addition to the standard tests for sickle cell, cystic fibrosis, phenylketonuria, congenital hypothyroidism, and medium chain acyl-CoA dehydrogenase deficiency.
Running for a year from July 2012, the trial 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 the results will be considered by the UK National Screening Committee, which is celebrating the 10th anniversary of the newborn screening programme.
Professor Dame Sally Davies, chief medical officer for England, said of the move: “This is a fantastic step forward for the newborn screening programme and shows the NHS at the cutting-edge. This pilot will identify more babies with serious conditions, giving them the chance to live a long, healthy life.”
Dr Anne Mackie, director of programmes for the UK National Screening Committee, added: “This pilot will gather evidence so we can understand whether offering tests for these conditions to a whole population is of overall benefit. The UK is a world-leader in screening policy and this is, in large part, due to our rigorous evidence-based approach which requires, not only that any screening test be very accurate, but also that there are treatment options available for anyone diagnosed.
“We look forward to reviewing the findings of this study.”
