7 January 2015
NEWBORN babies will be screened for four rare potentially life-threatening genetic disorders from this week following a successful pilot in which the South Yorkshire Collaboration for Leadership in Applied Health Research and Care played a key role.
The UK National Screening Committee was able to recommend extending the programme to screen for the following rare, but potentially disabling conditions: homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA) following the results of a pilot programme.
The pilot programme, which was coordinated by Sheffield Children’s NHS Foundation Trust in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, was run in Sheffield, Manchester, Leeds, Birmingham and London and funded by the National Institute for Health Research. The National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care is hosted by Sheffield Teaching Hospitals NHS Foundation Trust.
Testing for these conditions, leading to early detection and treatment, will prevent those babies affected from dying or being severely disabled for the rest of their lives.
Professor Sue Mawson, Director of the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care Yorkshire and Humber, said: “We’re delighted that this life-saving scheme is to be rolled out across the country. Identifying babies who have rare but serious conditions through screening is vital as early treatment can improve health and prevent severe disability or even death.
“The extension of the newborn baby screening programme also highlights the vital role research can play in improving patient care, as without the robust evidence gathered during the pilot the programme would not have been implemented.”
Screening for these rare disorders has the potential to benefit around 30 children in England each year.
Public Health Minister Jane Ellison said: “This is really welcome news. Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders. Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected.”
The test will be performed using the same blood test that babies currently have at five to eight days old. This sample is already used to test for five conditions which form the NHS Newborn Blood Spot Screening Programme: phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Sixteen-month old Phoenix Thompson from Lincolnshire was diagnosed with GA1 through the pilot programme at Sheffield Children’s Hospital.
Phoenix’s mother, Michelle Thompson, said: “Without the screening, Phoenix could already have been affected by his condition. But now we know we just need to care for him in a slightly different way. As health professionals know about the condition, know how to test for it and how to treat it, it makes perfect sense to expand the screening to make sure every child is tested.”
The Collaboration for Leadership in Applied Health Research and Care was awarded £24million by the National Institute of Health Research and is now a Yorkshire and Humber-wide Network.
ENDS
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