The National Health Service in the United Kingdom has announced a potentially groundbreaking DNA project to test babies’ DNA at birth to protect them from inherited diseases.
The NHS pilot will initially sequence the DNA of 20,000 babies but may develop into a world-first national routine screening programme.
DNA doctors hope they can spot signs of these conditions early on and prevent them from developing. Even if the illnesses aren’t curable, starting treatment in infancy can lessen the symptoms and lead to a better quality of life.
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.
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.
Whole genome sequencing (WGS) allows researchers to read all the bits of genetic code which make us who we are. The human genome itself is composed of more than three billion pairs of building-block molecules and grouped into some 25,000 genes. It holds the codes and instructions which tell the body how to grow and develop. However, when the genetic coding goes wrong these instructions can lead to disease. WGS testing allows doctors to spot rare diseases caused by genetic mutations.
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. Its objective was to sequence 100,00 genomes for NHS patients with a known area disease or cancer.
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 identify nine diseases.
The new DNA test, which costs £1,000, could potentially pick up a far greater genetic diseases. It will be introduced within three years if the pilot is a success.
This genetic tool will also target conditions which can be treated or even reversed when identified 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.’
Since the completion of the Human Genome Project (1998-2003), advances in human population genetics and comparative genomics have made it possible to gain increasing insight into the nature of genetic diversity.
Following on from this, in 2008, the 1000 Genomes Project (abbreviated as 1KGP) was launched as an international research effort to establish the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive.
In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. By 2015, two papers in Nature reported the findings and the announced the completion of the project. The 1000 Genomes project provided an overview of all human variation and identified a number of rare variations within diverse groups. Its impact benefitted all fields of biological science, especially in the disciplines of genetics, medicine, pharmacology, biochemistry, and bioinformatics.
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’.