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World-leading Genomics project to give insights into health and diseases

11 Sep 2019

In a major advance for public health and the UK’s global leadership in genomics, a £200m public-private collaboration will support the complete sequencing of the genetic code of all 500,000 participants in the UK Biobank health research resource.

UK Biobank, which is funded primarily by the MRC and the Wellcome Trust, is already a uniquely rich data resource that has dramatically increased our understanding of the factors that contribute to the development of disease. This Whole Genome Sequencing (WGS) project is the single most ambitious sequencing programme ever undertaken, anywhere in the world. It will be game-changing by making large-scale sequence data available to the global scientific community to help understand, diagnose, treat and prevent life-changing diseases, such as cancer and dementia.

A pilot programme, funded by the MRC through the Industrial Strategy Challenge Fund (ISCF), laid the groundwork for the WGS, sequencing the genomes of 10 percent (50,000 individuals) of the UK Biobank participants at the Wellcome Sanger Institute. The plan is to complete the remaining sequencing of 450,000 participants in two tranches. After both phases, industry collaborators will have preferential access for nine months to the sequence data combined with all the other data in UK Biobank. At the end of each period, UK Biobank would make the data available to other researchers subject to approval of a research application in accordance with its standard procedures.

The total amount of genetic data that will be generated is vast, roughly equivalent to around 600 billion pages of text. It will require unique technical expertise to store and analyse. The sequence data will be linked to the other detailed clinical and lifestyle data for each anonymised volunteer in UK Biobank. The end result will be a treasure trove of genetic information, linked with comprehensive clinical characterisation, appropriately de-identified and protected, that will help to provide a unique insight into why some people develop particular diseases and others do not.

The first tranche of sequence data is expected to comprise of about 125,000 sequences and is anticipated to be accessible to all researchers in Spring 2021. At the same time, it is planned that the 50,000 sequences from the pilot study will be made available. The expectation is that sequence data for all 500,000 UK Biobank participants would become generally accessible by early 2023.

Funding for the sequencing project comes from UK Research and Innovation (UKRI), with £50m through the ISCF, £50m from Wellcome and a further £100m in total from Amgen, AstraZeneca, GlaxoSmithKline (GSK) and Johnson & Johnson.

Joe McNamara, MRC Head of Population Health, said:

“The MRC, in partnership with the Wellcome Trust, has supported UK Biobank for more than 16 years enabling it to become a unique and powerful resource for healthcare researchers in the UK and across the globe. We are hugely indebted to the participants in this study, without whom the ground-breaking initiative announced today would not be possible. It is because of their generosity that we will gain important new insights into the genetic component of major illnesses such as cancer, diabetes, respiratory and cardiovascular disease, to better understand how they can be prevented, diagnosed and treated.”

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