BIRTH TEST REVOLUTION
Brit DNA breakthrough will save thousands of kids from killer diseases
A DNA test at birth which predicts the risk of serious health conditions could save 3,000 children a year.
It will allow early treatment to make life-threatening ailments including cystic fibrosis and severe epilepsy less debilitating.
And it could stop some killer diseases before they take a grip.
If a pilot is successful, the NHS will introduce the “whole genomic sequencing” scheme nationwide in a world first.
Tots already helped by Genomics England’s work include Owen Everitt, five.
Professor Mark Caulfield said: “A third of children with a rare disease will die before their fifth birthday. We want to change that and change it for ever.”
Its benefits can play out over the course of someone’s life CHRIS WIGLEY GENOMICS ENGLAND CEO
A DNA test pioneered in the UK is poised to achieve a world first in a genetics project scientists hope will “transform healthcare”.
A pilot scheme will give newborns a screening to flag up any risk of serious and rare conditions, including severe epilepsy and cystic fibrosis.
Early treatment could make them less debilitating or life-threatening – or even prevent them.
Of the 700,000 babies born in the UK every year, one in 260 will develop a serious rare disease in their first five years which could be tackled.
The “whole genomic sequencing” test will be given to 20,000 babies to identify conditions “highly likely” to develop before they are five.
And researchers estimate the process could eventually help 3,000 newborns a year.
Professor Mark Caulfield, chief scientist at Genomics England, said: “What we want to show is there is a new opportunity for children in our nation to have something that stops some of the worst diseases. A third with a rare disease die before their fifth birthday. That’s why we have chosen the age five. We want to change that and change it for ever.”
The DNA test, costing just under
£1,000, will be offered alongside the current heel prick test.
If successful, the
NHS will introduce it within three years in a world-first move.
The heel prick test can only flag nine conditions, including sickle cell disease. But genome testing will find scores more which can be treated or reversed with “transformative” drugs – or even simple supplements. Some forms of epilepsy could be tackled to help prevent permanent brain damage using just a 6p vitamin pill.
Prof Caulfield said: “A form of epilepsy is responsive to vitamin B6. If I said, ‘Your child could by taking vitamin B6 avoid this problem’, you would probably give it to them. These are the kind of examples. It could alter their life course.”
Genomics England is a private firm owned by the Government, working with universities and pharma. Boss Chris Wigley said: “There are 3,000 people a year whose lives we could transform.
“That’s just in early onset cases. Someone may 25 years later develop another problem. We can use the same data to assess [them]. The benefits can play out over the course of someone’s life.”
Prof Caulfield added: “Our mission is to do genetics that transforms healthcare.”
The technology was discussed at the Genomics England Research Conference in Westminster this week, where Health Secretary Matt Hancock said we are the “cusp of a healthcare revolution”.