Great Ormond Street Hospital to take part in newborn screening pilot for five more diseases

Great Ormond Street Hospital, which runs the UK's largest newborn screening lab, is to take part in a pilot to screen newborn babies for five more diseases.Currently all newborn babies in England are screened for five rare inherited diseases - sickle cell anaemia, which affects 350 babies a year; cystic fibrosis, which affects 250 babies a year and phenylketonuria, congenital hypothyroidism and medium chain acyl-CoA dehydrogenase deficiency (MCADD). A baby's heel is pricked shortly after birth, and a bloodspot is sent to laboratories for testing. This is an excellent example of preventative medicine with patients benefiting from early diagnosis.  

The pilot scheme in London, Sheffield, Leeds, Manchester and Birmingham will mean that 430,000 newborns a year will be also screened for:

Maple syrup urine disease
Homocystinuria
Glutaric acidaemia type 1
Isovaleric acidaemia
Long chain fatty acidaemia

Each of these conditions affects about one in every 100,000 births - or about seven babies - a year.

The chief medical officer for England, Prof Dame Sally Davies, said: "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, the director of programmes for the UK National Screening Committee, said: "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. We look forward to reviewing the findings of this study."

Simon Heales, director of newborn screening, Great Ormond Street Hospital, said: "We welcome the plans to pilot tests for five more diseases, to see if this is a cost effective way of diagnosing these rare diseases early in life and of helping the families concerned to access the healthcare system as soon as possible. Each year our laboratories screen approximately 125,000 newborn babies and we look forward to piloting the tests for these additional diseases."