Millions of Britons will have their DNA analysed in two groundbreaking projects that scientists expect to confirm the UK as a world leader in genomics.
About five million adults will have their genetic profiles linked to health records and information on their lifestyles as part of a project called Our Future Health.
Another scheme, the Newborn Genomes Programme, will read the DNA of 100,000 babies. Their entire genetic code — known as the whole genome — will be recorded in an effort to improve the detection of rare childhood diseases.
Both projects will aim to recruit representative samples of the population after the earlier flagship UK Biobank scheme — which began in 2006 and holds genetic and health information from about 500,000 Britons — was criticised for enrolling too many white middle-class volunteers.
Professor Eric Topol, director of the Scripps Research Translational Institute in California, who has no direct role in the programmes, said that Britain was playing a leading role in deciphering how a person’s genetic code contributes to the risk of disease.
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“The UK is incontrovertibly the world leader in genomics,” he told the Financial Times. “Its commitment to genomics has been more extensive and broader than any other country.”
The Newborn Genomes Programme is being carried out by Genomics England, a publicly owned company that partners with the NHS. Its main focus is genetic mutations that cause rare childhood diseases.
“The primary goal is to detect a range of disorders where we already have an intervention that could be given at the earliest possible point in life to reduce disability or potentially to avoid harm,” said Professor Sir Mark Caulfield, of Queen Mary University of London, when it was launched last month.
“It turns out that approximately 1 in 190 births — [roughly] 10 babies born every day in the UK — has one of these problems, and if the intervention is employed, this could be life changing.”
Our Future Health, a collaboration involving the NHS, academics and the private sector, plans to recruit five million adults by 2025 and has been recognised as one of the most ambitious health projects of its kind.
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Sir John Bell, regius professor of medicine at Oxford University and chairman of the project, said last year its goal was to “fundamentally change the way we think about healthcare”.
Participants will have blood taken, along with details of height, weight and lifestyle. The hope is to integrate this with medical records to find ways to understand the first stages of disease.
“The NHS is under enormous pressure,” Bell said when the project was announced. “One of the issues for healthcare systems is they were designed mostly 40 or 50 years ago, around the big hospitals and the ability to treat people when they became symptomatic.
“So people are being treated for diseases which they may have had for 30 years. There’s lots of evidence that these diseases usually start many years before becoming symptomatic. It’s during those initial periods that you have a real opportunity to make a difference.”
Raghib Ali, chief medical officer at Our Future Health and senior clinical research associate at the MRC epidemiology unit at Cambridge University, said: “It’s the kind of study which in many ways I’ve been waiting for most of my career.”
