Babies’ DNA will be checked at birth in major NHS trial to ‘save thousands of lives’ by spotting genetic diseases such as epilepsy and cystic fibrosis

The NHS is beginning a scheme to test babies’ DNA at birth to protect them from inherited diseases.

One in every 260 babies born in the UK – more than 2,500 every year – develop a serious illness which could be treated before they turn five.

And by collecting and screening newborns’ DNA doctors hope they can spot signs of these conditions early on and prevent them from developing.

Even if the illnesses – such as epilepsy or cystic fibrosis – aren’t curable, starting treatment in infancy could improve the patients’ lives in the long term.

The tests could even spot children who are at a particularly high risk of developing cancer, heart disease or Alzheimer’s when they grow up.

The NHS pilot scheme hopes to ‘sequence’ the DNA of 20,000 babies before officials will consider rolling out a world-first national routine screening programme.

The NHS pilot will involve 20,000 babies having 'whole genomic sequencing' to identify conditions that have a high chance of developing in their early years (stock image)

Genomics England, a company owned by the Department of Health and Social Care, runs the project and is working with universities and pharmaceutical firms.

The 100,000 Genomes project, which the pilot is linked to, was the brainchild of David Cameron who launched it in 2012 after his son Ivan died from a rare neurological disorder.

After the 100,000 target was met in December, the NHS set a new goal of five million genomes to be sequenced over the next five years.

Mark Caulfield, Genomics England’s chief scientist, told the Daily Mirror: ‘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.’

Newborns are currently offered the heel prick test, which can pick up nine diseases.

The new DNA test, which costs £1,000 a go, could pick up significantly more. It will be introduced within three years if the pilot is a success.

Many of the conditions that the DNA test picks up on can be treated or even reversed when dealt with early enough.

Although drugs would be used in many cases there are some examples of severe epilepsy that could be helped by a 6p vitamin pill.

Professor 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’s chief executive 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.’

Health Secretary Matt Hancock told a conference that he hoped every baby will be offered the test.

He added: ‘My ambition is that eventually every child will be able to receive whole genome sequencing along with the heel prick test.

‘We will give every child the best possible start in life by ensuring they get the best possible medical care as soon as they enter the world.

‘Predictive, preventative, personalised healthcare – that is the future of the NHS – and whole genome sequencing and genomics is going to play a huge part in that.’

It was revealed in January that all children with cancer will be offered the test by the end of this year. Mr Hancock said the advances, led by Genomics England, put the NHS ‘on the cusp of a healthcare revolution’.


Whole genome sequencing allows researchers to read all the little bits of code that make us who we are.

The human genome is composed of more than three billion pairs of building-block molecules and grouped into some 25,000 genes.

It contains the codes and instructions that tell the body how to grow and develop, but flaws in the instructions can lead to disease.

Many argue giving patients the blood tests will allow doctors to spot rare diseases caused by genetic mutations.

Former Prime Minister David Cameron set-up a project to sequence 100,000 genomes for NHS patients with a known rare disease or cancer.

Chief medical officer Dame Sally Davies wants to set up a central genetic database within the next five years to aid research.

She said genetic testing should become as routine as an MRI scan, although patients would have the opportunity to opt out.

The first decoding of a human genome – completed in 2003 as part of the Human Genome Project – took 15 years and cost £2.15 billion ($3bn).

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