The generosity of 500,000 healthy volunteers could help us all

UK Biobank's project to sequence the genomes of 500,000 participants creates a unique resource that will help researchers to unlock new treatments and preventative measures for a wide range of diseases.

A storage freezer at UK Biobank for biological samples
A storage freezer at UK Biobank containing biological samples
Credit: Wellcome

Sara Marshall

Sara Marshall

Just over a decade ago, half a million people across the UK agreed to take part in one of the most ambitious initiatives to understand human health and disease – the UK Biobank.

Those who took part allowed their lives to be studied through blood tests, body scans and information from their medical records. Over the years, a living library of information has been collected, with UK Biobank participants agreeing to eye tests and activity monitors, questionnaires and saliva studies.

The key feature of the UK Biobank is that the information from each test done on an individual is linked to all their other test results, and so the library is continually growing in depth and breadth.

We’re incredibly fortunate to now be benefiting from the insights gained from this approach, with new treatments and understanding of disease helping to improve the lives of many.

One of the discoveries has been a better understanding of type 1 diabetes. This is the commonest form of diabetes in children, which has led to it being called 'juvenile diabetes'. However, a study using information from UK Biobank revealed that type 1 diabetes is almost as common in adults as it is in children. This hasn’t been recognised previously because so many adults have a different kind of diabetes.

Making this distinction is important because failure to correctly diagnosis type 1 diabetes often means that patients do not receive the right treatment to control their blood sugar levels. These insights are invaluable, helping those with diabetes to better manage their condition.

So, today’s announcement that the entire genetic code from participants of the UK Biobank will be sequenced means that even more of the enormous scientific potential of the initiative will be unlocked.

Each of us has a unique genetic code which determines many of our traits - from our eye colour to how tall we are. This code can also predispose us to develop certain diseases or influence how effective treatments might be.

By sequencing the genetic code from each person in the UK Biobank, researchers from across the globe will be able to combine it with the vast array of data already held in the UK Biobank such as medical records and lifestyle.

The project is huge. Nothing like this has been attempted before. It’s only possible because different funders have come together: the UK Government, Wellcome and four pharmaceutical companies. Together £200 million has been contributed to deliver this project.

At the heart of this extraordinary project are the half a million committed individuals who have generously agreed to sharing information about themselves for the benefit of others. The addition of their detailed genetic information to the UK Biobank database will create a unique treasure trove of health information, available to bona fide researchers across the world.

By mining this data we’ll gain new insights into diseases that can affect us all, such as cancer and dementia, opening the door to new and better treatments and ways of preventing them from ever developing.

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