Home Health 100,000 infants to have genetic code mapped

100,000 infants to have genetic code mapped

Owen Everitt

The total DNA of 100,000 newborns in England is to be sequenced as a part of a analysis venture to enhance the analysis and remedy of uncommon genetic situations.

It would be the first time that entire genome sequencing (WGS) has been supplied to wholesome infants within the NHS.

The Newborn Genomes Programme will display screen for round 200 problems, all of them treatable.

It is considered the most important examine of its sort on the earth.

The venture, which can start subsequent yr, will likely be led by Genomics England, in partnership with the NHS. If profitable, it might be rolled out throughout the nation.

Currently, a heel prick blood take a look at supplied to newborns screens for 9 uncommon situations, together with cystic fibrosis and sickle cell illness.

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

“We need to have the ability to supply speedy analysis, faster entry to remedy, and higher outcomes and high quality of life.”


What is your genome?

  • It is the blueprint for how our bodies function, written in chemical code called DNA
  • The segments of DNA are called genes
  • Every person’s genome contains many errors or mutations
  • Most errors are of no consequence, but some can trigger disease

Source: NHS England


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 might velocity up the method.

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.

Diagnostic odyssey

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.

Rob and Sarah Everitt

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 informed the BBC: “I consider all of the hours we spent in hospital ready rooms, getting referred round completely different departments, all of the checks – a few of which have been fairly invasive – that drew a clean each time. I misplaced rely of what number of docs and consultants we went to see and what number of checks 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 successful the lottery….as a result of we knew there was a remedy pathway; we knew we might get him help and he might attend a mainstream faculty.”

Sarah says daily medication has ‘revolutionised’ Owen’s life: “He used to not have any power to stroll or speak and would simply go to sleep through the center of day. Now he is stuffed with power and I am unable to sustain 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 vary the face of medication….with the ability to deal with all these unknown medical situations, or a minimum of to have them defined.”

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 accomplished away with lots of the stress and uncertainty, as a result of for a number of years the docs could not inform us what to anticipate – whether or not Owen was going to stroll or speak, or whether or not his situation would worsen.”


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.

Heel prick test

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.


Analysis: Undeniable benefits, but questions remain

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’re studying the language wherein God created life.”

Tony Blair, who joined the ceremony via satellite link from Downing Street, said: “Every so typically within the historical past of human endeavour, there comes a breakthrough that takes mankind throughout the frontier and into a brand new period.”

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.

Related Internet Links

The BBC is not responsible for the content of external sites.


Previous articlePCB places tickets on sale for remaining Test in Karachi
Next articleSessions court reserves verdict in Toshakhana case