Faster results mean sick babies can be given the correct medication |
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Doctors in
the US say they have taken a big step forward in the speed of analysing the DNA
of seriously ill babies with genetic diseases.
The whole
of a baby's genetic code - genome - was sequenced, analysed and the results
given to doctors within 50 hours in intensive care units at Children's Mercy
Hospital, Kansas City.
The process
would normally take at least a month, they said.
Experts in
the UK said it was an "impressive" technical achievement.
US doctors
say up to a third of babies admitted to neonatal intensive care units are there
because of genetic diseases caused by mutations in their DNA. However, there
are more than 3,500 different genetic diseases meaning many are rare and
difficult to diagnose.
The first
copy of the blueprint of human life - the Human Genome Project - took years to
accomplish and an incredible amount of money. Since then both the time and the
cost have fallen dramatically.
Children's
Mercy Hospital has been testing a new way of reading the genetic code which
takes 50 hours from the moment a blood sample is taken.
They were
able to make a diagnosis in three out of the four babies they tested, according
to a study published in Science Translational Medicine.
Costly
business
Dr Stephen
Kingsmore, director of the Center for Pediatric Genomic Medicine at the
hospital, said: "We can now consider whole genome sequencing to be
relevant for hospital medicine.
"It is
now feasible to decode an entire genome and provide interim results back to the
physician in two days.
"We
think this is going to transform the world of neonataology."
The results
could help doctors provide the best treatment and counsel families. However, at
a cost of about £8,400 ($13,500) it is still expensive.
Prof David
Bonthron, from the University of Leeds, said: "It's pretty impressive
technically, they're pushing the envelope of how fast you can turn this stuff
around - two days is pretty fast."
He said
speed was also vital in analysing the genes of a foetus still in the womb if
abnormalities have been identified.
However, he
added: "The speed issue is maybe a bit restricted in its applicability as
other areas are not that time pressured. In outpatients a few days is
not that important."
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