Blitz Bureau
LONDON: The entire genetic code of up to 100,000 newborn babies in England will be analysed by the National Health Service (NHS), with the aim of speeding up the diagnosis and treatment of more than 200 rare diseases.
At present, newborns are given a heelprick blood test that checks for nine serious conditions, including cystic fibrosis, according to BBC. As part of this new study, led by Genomics England, blood samples will be taken from babies’ umbilical cords to help diagnose many more gene disorders, such as haemophilia and spinal muscular atrophy.
Hundreds of blood samples have already been collected from babies born at 13 hospitals in England; around 40 hospitals will eventually offer the test.
There are approximately 7,000 single gene disorders, but the programme will look only for those disorders that develop in early childhood for which there are effective treatments.
In some cases the diseases are curable, if caught early. Screening newborn babies for these rare diseases involves sequencing their complete DNA – or genome – using blood samples from their umbilical cord.
Dr Ellen Thomas, chief medical officer at NHS England, said the 200 conditions the study looks for cause “substantial health problems early in childhood”.
“The treatments and interventions which are available for all of them can have a dramatic impact on that child,” she added. At present it can take years for genetic diseases to be diagnosed, and these are often picked up only once a child becomes seriously ill.
Lucy White’s son Joshua, aged nine, has a rare genetic disorder called early juvenile Metachromatic Leukodystrophy (MLD), which is part of the new screening test. Joshua was apparently healthy at birth, but his mobility began deteriorating at about the age of four, and in the past two years he has lost the ability to walk or talk.
