Britain’s genetic databank to unveil largest-ever sequencing release

The pioneering UK Biobank is to publish the largest-ever release of genetic sequencing data to boost the research and development of drugs to treat diseases ranging from heart conditions to cancers.

The latest £200mn project was a collaboration funded by the government, Wellcome Trust, Britain’s biggest biomedical charity, and four pharmaceutical companies. Biobank’s store of data from some 500,000 individuals collected over more than 15 years makes it a world-leading resource to study the impact on health of genetics, lifestyle and ageing.

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

UK Biobank hailed the project, which took five years and more than 350,000 hours of genome sequencing, as a “defining moment for the future of healthcare”. It combined genetic information with many years of other health data including lifestyle studies, whole-body imaging scans and information on proteins found in the blood.

“This release . . . is the culmination of 20 years of work and it’s the largest ever release of whole genome sequences in history,” said Cheryl Moore, chief research programmes officer at the Wellcome Trust. “Scientific data that is openly shared allows everyone to contribute groundbreaking discoveries.”

The four pharmaceutical companies that part-funded the project — Amgen, AstraZeneca, GSK and Johnson & Johnson, — received nine months’ exclusive access to the data, which will now be made available to approved researchers worldwide via the Biobank’s analysis platform.

More than 30,000 researchers from almost 100 countries have registered to use the Biobank’s data since 2012, with more than 9,000 peer-reviewed papers already published as a result.

The organisation has attracted growing international interest from backers, including donations announced in October of $10mn each from former Google chief executive Eric Schmidt and billionaire investor Ken Griffin.

Research using Biobank data has already helped identify genes offering protection against obesity and diabetes, as well as others that raise risks of heart disease, breast cancer and prostate cancer. It has also revealed links between activity levels and Parkinson’s that help give early warning of the disease years before diagnosis.

“UK Biobank has become this fantastic global resource, which has just incrementally added new sets of insights into a whole range of the most common diseases in middle and late age,” said Sir John Bell, regius professor of medicine at Oxford university. “It has become a huge service to the global research community.”

Scientists hope the new data release will deepen knowledge of the biological causes of diseases and help improve the use of “precision medicines” tailored to individuals’ genetic and health profiles.

The sheer scale of the new information should help reveal the impact of rare genetic variations which would not be apparent in smaller data sets, said Tim Frayling, professor of human genetics at the University of Geneva.

One example of potential applications could be to better understand why some people with high cholesterol levels respond well to treatment with statins than others, he added.

“One of the great benefits of the study is not just the genetic information but the health and disease information that’s linked to it,” he said. “I have been working in human genetics for 30 years and I have never been more excited by a new data set — and the new research that’s going to be possible.”