Image: Wellcome Sanger Institute, Genome Research Ltd.

A £200 million investment from government, industry and charity cements UK Biobank’s reputation as a world-leading health resource to tackle the widest range of common and chronic diseases – including dementia, mental illness, cancer and heart disease.

The investment provides for the whole genome sequencing of 450,000 UK Biobank participants. A Vanguard study, funded by the Medical Research Council to sequence the first 50,000 individuals, is already underway.

The addition of the whole genome sequence data from all 500,000 participants will dramatically enhance the ability of the resource to support innovative and imaginative research. It will enhance the ability of scientists to understand how genetics combine with lifestyle and the environment in which we live to cause disease.

With the support of our participants, UK Biobank is already a rich data resource that is substantively increasing the understanding of factors that contribute to the development of disease.

Uniquely, it is readily available to approved academic and commercial researchers from around the world for all types of health-related research.

In particular, it paves the way for personalised medicine, where individual treatments are based on a person’s genetic make-up and preventive steps can be taken to help those most at risk because of their genes.

The ambitious project is funded with:

£50 million by the UK Government’s research and innovation agency, UK Research and Innovation (UKRI) through the Industrial Strategy Challenge Fund;

£50 million from The Wellcome Trust charity;

£100 million in total from pharmaceutical companies Amgen, AstraZeneca, GlaxoSmithKline (GSK) and Johnson & Johnson (J&J).

The proposal to sequence all of the participants was approved by UK Biobank’s Board in accordance with its standard access procedures and in a manner fully consistent with the consent that all of the participants provided when they joined the project. The initiative has commissioned the Wellcome Sanger Institute in Cambridge and deCODE genetics in Iceland to conduct the sequencing.

One challenge being overcome is the storage and the ability to analyse the vast amounts of data that are generated. Sequence data on 500,000 individuals is roughly equivalent to 600 billion pages of text, which will be linked to all of the other clinical and lifestyle data collected on each participant.

At the end of May 2020, the consortium of pharmaceutical companies will be provided independently with access for analysis to the first tranche of sequence data (anticipated to be for about 125,000 participants) linked to all of the other data in the UK Biobank resource. After an exclusive access period of 9 months, the whole genome sequence data will be made available to all other approved researchers around the world. A similar exclusive access period will also apply on the completion of the sequencing.

The period of exclusive access mirrors the arrangements that UK Biobank had with the exome sequencing project which is being undertaken by Regeneron in the US and other industry partners. The first tranche of exome data on 50,000 participants is now being used in more than 100 research projects worldwide.