100,000 babies to have genetic code mapped

The entire DNA of 100,000 newborns in England is to be sequenced as part of a research project to improve the diagnosis and treatment of rare genetic conditions.

It will be the first time that whole genome sequencing (WGS) has been offered to healthy babies in the NHS.

The Newborn Genomes Programme will screen for around 200 disorders, all of them treatable.

It is thought to be the biggest study of its kind in the world.

The project, which will begin next year, will be led by Genomics England, in partnership with the NHS. If successful, it could be rolled out across the country.

Currently, a heel prick blood test offered to newborns screens for nine rare conditions, including cystic fibrosis and sickle cell disease.

Dr Rich Scott, Chief Medical Officer for Genomics England, said: "Our goal is… to do more for the thousands of children born every year in the UK with a treatable genetic condition.

"We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life."

There are at least 7,000 single gene disorders, most of which develop during early childhood.

Every year, several thousand children in the UK are affected by rare genetic diseases, but families often endure years of tests and uncertainty before they receive a diagnosis.

Whole genome sequencing could speed up the process.

The NHS in England recently announced that it would offer genome sequencing of all seriously ill children suspected of having a genetic disorder.

The Newborn Genomes Programme goes much further, as it will offer the test at birth to healthy infants. It can take months, or even years, for children to display symptoms of some conditions, by which time avoidable damage may have been done.

Owen, 9, has an extremely rare genetic condition which affects his growth and development. Called THRA-related congenital hypothyroidism, it is one of the disorders which will be included in the new genetic test.

Owen's parents, Sarah and Rob Everitt, from West Yorkshire, noticed something was wrong around his first birthday, because he was not crawling or sitting up. But their concerns were repeatedly dismissed by doctors, and it took until Owen was four and a half to be given a diagnosis.

Rob Everitt told the BBC: "I think of all the hours we spent in hospital waiting rooms, getting referred around different departments, all the tests - some of which were quite invasive - that drew a blank every time. I lost count of how many doctors and consultants we went to see and how many tests they did on him."

This diagnostic odyssey - often lasting years - is typical for many families of children with a rare genetic disorder.

Eventually, Owen's entire genome was sequenced, which pinpointed his condition. He was only the sixth person in the UK, and the 30th in the world, to be diagnosed with the gene disorder - which is not inherited, but due to a spontaneous mutation in his DNA.

Sarah Everitt says getting the diagnosis was life-changing: "It was like winning the lottery….because we knew there was a treatment pathway; we knew we could get him support and he could attend a mainstream school."

Sarah says daily medication has 'revolutionised' Owen's life: "He used not to have any energy to walk or talk and would just fall asleep during the middle of day. Now he's full of energy and I can't keep up with him!"

Sarah says she would strongly encourage parents of newborns to take up the offer of whole genome sequencing once the project gets under way next year: "It's going to change the face of medicine….being able to treat all these unknown medical conditions, or at least to have them explained."

Genomics England estimate that the project will identify hundreds of children with genetic disorders that would otherwise have been missed by current newborn screening.

Rob says if Owen's genome had been sequenced at birth it would have made a dramatic difference: "It would have done away with a lot of the stress and uncertainty, because for several years the doctors couldn't tell us what to expect - whether Owen was going to walk or talk, or whether his condition would get worse."

The list of genetic conditions which will be included in the new screening programme has yet to be finalised, but each of them will have a treatment which could alleviate the disorder.

Whole genome sequencing may also identify conditions that occur only later in life, such as some cancers.

Around 1 in every 400 people inherit a faulty BRCA1 or BRCA2 gene which can increase the risk of cancer of the breast, ovary, prostate and pancreas.

Although whole genome sequencing would identify such mutations, they will not be the focus of the Newborn Genomes Programme.

Instead, the data will be anonymised and stored until participants are adults and they can decide whether they want to stay in the study.

Having access to genetic data later in life could improve treatment for some conditions and avoid harmful drug interactions.

It was in 2000 that an international consortium of scientists announced they had completed the first draft of a sequence of the human genome. It had taken many years and cost several hundred million pounds. Now a whole human genome can be sequenced in a day for a few hundred pounds.

In June 2000 I remember reporting the ceremony to mark the decoding of the human genome. At the time, President Bill Clinton said: "Today we are learning the language in which God created life."

Tony Blair, who joined the ceremony via satellite link from Downing Street, said: "Every so often in the history of human endeavour, there comes a breakthrough that takes mankind across the frontier and into a new era."

Mr Clinton even joked that the life expectancy of the prime minister's recently born son, Leo, had just risen by 25 years.

It is remarkable that two decades later whole genome sequencing for newborns is about to become a reality. In terms of newborn screening, it is like going from analogue to digital, from black-and-white to colour.

There will be undeniable benefits for many families of children with genetic disorders: these will be diagnosed faster and treated more quickly. It will spare months, or years, of anguish as parents search for answers to their child's malady, which often only becomes apparent when babies fail to reach developmental milestones.

But it does raise questions about how much health information is held about individuals, and who controls it.

Genomics England says that all newborn genomes will be anonymised. The children involved will have the chance to decide what happens to their data when they reach adulthood.

By then, genome sequencing may have become the norm - and the baseline from which all ailments, from cancer onwards, are treated.