June 16, 2024

A new era of medical discoveries, treatments and cures is on the horizon, researchers say, following the announcement that an unprecedented trove of genetic information is to be made available to scientists.

Health researchers from around the world can now apply to study the whole genomes of half a million people enrolled in UK Biobank, a biomedical research project that has compiled detailed health and lifestyle records on individuals since it began 20 years ago.

The move on Thursday amounts to the largest number of whole-genome sequences ever released for medical research. The sequences will be used with UK Biobank’s records and other data to delve deeply into the genetics of everything – from people’s risk of obesity, diabetes, heart disease, cancer and other conditions, to individuals’ sleep and exercise patterns.

Researchers believe the new data will allow them to calculate people’s individual risk scores for a raft of cancers and other diseases, and so work out who could benefit most from early screening.

They should also gain a deeper understanding of serious genetic conditions such as Huntington’s and motor neurone disease, which have often been studied in small numbers of severely affected patients.

“This is a veritable treasure trove for approved scientists undertaking health research,” said Prof Sir Rory Collins, principal investigator at UK Biobank. “I expect it to have transformative results for diagnoses, treatments and cures around the globe.”

Health experts from academia, the government, industry and charities can apply for access though they have to be approved and study the genomes through a protected database stripped of identifying details such as names, addresses, birth dates, and GP information.

A person’s risk of developing disease is typically a complex interplay of genetics, lifestyle and environment. By studying the whole genomes of hundreds of thousands of people, researchers can identify specific variants of genes that are involved in a raft of diseases and explore which are promising drug targets.

Until 2021 scientists could study only about 1% of the DNA of UK Biobank volunteers – the fraction that encodes proteins. Since then, whole genomes have been released for 200,000 participants, but work continued to sequence all of the 500,000 volunteers.

With that number of whole genomes in hand, researchers will be able to find much rarer genes which drive diseases, including those that behave like switches and turn other genes on and off.

Sir John Bell, regius professor of medicine at Oxford University, said having access to the whole genomes would make it easier for scientists to spot rare genetic variants that only crop up in small numbers of people but which can be crucial for understanding disease.

“Even the identification of one or two people can give you a read on what a gene might do and how it might contribute to disease,” Bell said. “That is hugely important for discovering drugs and it’s also hugely important in understanding the role of genes generally in biology. Scale is really important.”

Aiden Doherty, professor of biomedical informatics at Oxford, will study the genomes to understand which genes affect people’s sleep and levels of physical activity. Some of these genes are expected to have broader health implications since poor sleep and inactivity are strongly linked to ill health.

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Doherty said: “This really will be gamechanging. What are the genetic drivers that predispose some people to be more active than others and some people to sleep better than others?

“I don’t have a clue what we’ll find, but I’m really excited to find out. Could we find something in this treasure trove of data, perhaps some target that could mimic the effects of exercise? I can’t say whether we’ll find that or not. But this is our best bet.”

Dr Zahra Raisi-Estabragh, an academic clinical lecturer at Queen Mary, University of London, uses medical scans from the UK Biobank to identify subgroups of obesity.

While some people accumulate fat directly beneath the skin, in others it collects around internal organs. “We’ve shown that fat around the heart has a distinct disease-causing potential compared to fat elsewhere,” she said.

She plans to delve into the UK Biobank genomes to see which genetic variants drive harmful patterns of body fat and so determine who is most at risk. “There’s much more potential for a new scientific discovery,” she said.

This article was amended on 30 November 2023. The subheading of an earlier version said BioBank, instead of Biobank.

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