June 18, 2024

The origins of the UK Biobank can be traced back to a pilot study in a building in Stockport bordered by the Cheadle Heath police station on one side and the local recreation ground on the other. It was the early 2000s and scientists had realised the potential for genomics and big data to transform health research.

With diabetes, cancer, dementia and other ailments on the rise, scientists pushed for a database devoted to genetics, health and lifestyle to help them tease apart who was most at risk and how diseases could be prevented.

Today, the UK Biobank ranks as the world’s most important health database and is arguably the UK’s most significant scientific asset. It holds detailed information on half a million volunteers. More than 30,000 researchers in 100 countries are registered to access the data, and they have produced more than 9,000 academic papers. The data amounts to the most detailed picture of human health anywhere on the planet.

Researchers always praise those who volunteer for long-term prospective studies, but the information provided by participants puts them in a class of their own. More than 10,000 variables are collected on each volunteer, giving researchers extraordinarily rich data to dive into. Blood, urine and saliva are used, as are height, weight and hip and waist measurements. Measurements are collected on blood pressure, heart rate, grip strength, bone density, arterial stiffness, eye examinations, spirometry for lung conditions and fitness tests. And those are just the basics.

Through interviews and questionnaires, the volunteers share details on their lives and lifestyles. Where do they live? What education do they have? What’s their medical history? Do they do shift work, spend hours on a mobile phone, bask in the sun? How much do they smoke, drink, exercise, sleep, and what do they eat? Mental health and cognitive function are also tracked over time.

Yet more data is gathered on top. One hundred thousand volunteers wore smartwatches for a week to record their physical activity. Based on the measurements, researchers made the remarkable discovery that data from wearables could predict Parkinson’s disease up to seven years before onset. Another 100,000 are taking part in the world’s largest multi-organ imaging project, receiving MRI scans of the brain and heart, along with bone density, retina and carotid artery scans. The images are driving new research into dementia, heart disease, arthritis and diabetes.

And then there is the genetics. It took five years and 350,000 hours of sequencing to read the whole genomes of the 500,000 volunteers. Armed with the information, scientists can search for genetic variants that make people susceptible to particular diseases, and see what health or lifestyle factors are a factor. Identifying genes that underpin disease can be the first step towards a new treatment. Medicines developed on the back of human genetic evidence are twice as likely to reach the clinic than those that lack such support.

The biobank’s genetic data has already borne fruit. Researchers in the US discovered a gene that protects against obesity and diabetes, raising hopes of a drug that mimics its effects. GPs in Britain have piloted polygenic risk scores to spot people at high risk of cardiovascular disease. The scores are calculated from the small effects of multiple genes and provide a personalised risk for each patient.

This personalised approach is the future of healthcare. As scientists learn more about genetics and disease, doctors will stratify their patients according to their individual risks. Those at greatest risk of cancer, heart disease and dementia, for example, could be put forward for earlier screening, leading to better treatment and prevention.

While operating across multiple sites in Bristol, Newcastle, Reading and Oxford, UK Biobank is still headquartered in Stockport. But after nearly two decades, that is about to change with a move to a new state-of-the-art facility in Manchester.

This article was amended on 1 December 2023. Researchers in 100 countries (not “more than 100” as an earlier version said) are registered to access the UK Biobank data. And they have produced more than 9,000 academic papers, rather than 6,000 as previously stated.

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