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Four rare genetic conditions added to screening list for UK newborns

12 January 2015

By Dr Charlotte Warren-Gash

Appeared in BioNews 785

All newborn babies in England are now to be offered screening for four rare life-threatening genetic disorders.

The conditions - estimated to affect around 30 babies a year - will be detected through an expansion to Public Health England's NHS Newborn Screening Programme. Identifying affected babies early will allow treatment to prevent severe disability or death.

All four genetic disorders - homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia - affect metabolism so that patients have difficulty breaking down amino acids, the 'building blocks' of proteins. The resulting build-up of dietary protein can lead to brain damage, severe disability or early death, but a change in diet could help save lives.

Jane Ellison MP, public health minister, 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.'

Newborn babies in England are currently offered a heel prick test at five to eight days to screen for five inherited conditions including cystic fibrosis and sickle cell disease. The same test will be used to test for the four additional disorders.

Sixteen-month-old Phoenix Thompson was diagnosed with glutaric aciduria type 1 at Sheffield Children's Hospital during a pilot programme of expanded screening that found 20 confirmed cases of the four extra conditions in 700,000 babies. Michelle Thompson, Phoenix's mother, said: 'It doesn't bear thinking about what would have happened if the condition wasn't picked up early.'

Screening in Wales will begin later this month. Scotland and Northern Ireland have yet to reach a decision about expanding their newborn screening programmes.

BBC News | 05 January 2015 (Public Health England press release) | 05 January 2015
The Guardian (Press Association) | 05 January 2015
Manchester Evening News | 05 January 2015


25 November 2013 - by Dr Lucy Freem 
A strategy to improve diagnosis, research, and treatment of rare diseases has been launched by the UK Government...
09 September 2013 - by Dr James Heather 
The US National Institutes of Health has unveiled plans to trial sequencing the DNA of newborn babies, to test if it could improve paediatric medical care...
16 August 2010 - by Dr Lux Fatimathas 
Newborn babies showing signs of liver disorders will be screened for 92 genetic conditions, as part of a trial launching next month at Birmingham Children's Hospital. Newborns will be screened for multiple conditions with a single test using gene chip technology....

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