New ‘fast track’ test for babies with genetic diseases

Results of genome test can now be available in 50 hours


A new method of analysing babies’ DNA has been trialled in the US, meaning babies with genetic diseases could be diagnosed in just 50 hours.


Doctors at Children’s Mercy Hospital, Kansas City used the pioneering new method to sequence and analyse the whole of a baby’s genetic code, a process that normally takes at least a month.

This means that babies born with a genetic disease could now be diagnosed much more swiftly, ensuring families are able to start the best treatment and counselling sooner.

Professor David Bonthron of the University of Leeds, has said of the results,”It’s pretty impressive technically, they’re pushing the envelope of how fast you can turn this stuff around.”

However, it may be some time before the new test is widely available as the cost is around £8,400.

Doctor Stephen Kingsmore, Director of the Center for Paediatric Genomic Medicine at Children’s Mercy Hospital predicts the study will have a lasting impact, saying, “We think this is going to transform the world of neonatology.”


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