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World-leading genomics project to give insights into health and disease


World-leading genomics project to give insights into health and disease

In a major advance for public health and for the UK’s global leadership in genomics, a £200m project involving the government, charity and four leading pharmaceutical companies was announced today. This public-private collaboration will support the complete sequencing of the genetic code of all 500,000 participants in the UK Biobank health research resource.[1]

Supported for the past 16 years with public and charity funding, UK Biobank 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.

Funding for the sequencing project comes from the government’s research and innovation agency, UK Research and Innovation (UKRI) with £50m through the Industrial Strategy Challenge Fund, £50m from Wellcome and a further £100m in total from Amgen, AstraZeneca, GlaxoSmithKline (GSK) and Johnson & Johnson[2]. The illumina sequencing platform will be used by the Wellcome Sanger Institute and deCODE genetics.

The total amount of genetic data that will be generated is vast, roughly equivalent to around 600 billion pages of text and 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 completion of the Genomics England 100,000 Genomes Project in 2018 is already demonstrating the value of genetics in the diagnosis and treatment of rare diseases and cancer. This new project will focus on common conditions that affect the health of many of us. It may hold the key to identifying more precise treatment for a range of conditions tailored to the genetic makeup of an individual, as well as helping to improve the prediction and prevention of disease.

The government funding forms part of a wider £210m industrial strategy challenge “From Data to Early Diagnosis and Precision Medicine”, administered by UKRI.

To ensure the main sequencing programme runs smoothly the Medical Research Council (MRC), through the ISCF, funded UK Biobank to conduct a successful pilot programme at the Wellcome Sanger Institute involving sequencing the genomes of 10 percent (50,000 individuals) of the UK Biobank participants.

Building on the work of the MRC-funded pilot programme, 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 of 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 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.

Commenting on the announcement:

Business Secretary Andrea Leadsom said:

 “Today’s funding will support one of the world’s most ambitious genome sequencing programmes ever undertaken, reflecting the UK’s determination to remain at the forefront of scientific endeavour and progress.

“Its results could transform the field of genetic repeated research - unlocking the causes of some of the most terrible diseases and how we can best tackle them. It will be a major step forward for individually tailored treatment plans and will help us better understand why some people get certain diseases while others don’t”.

Health and Social Care Secretary Matt Hancock said:

“I am incredibly excited by the potential of genomics to change the way we think about disease and healthcare. In an ageing society with an increasing burden of chronic diseases, it is vital that we diagnose earlier, personalise treatment and where possible prevent diseases from occurring altogether.

“This project will help unlock new treatments and grow our understanding of how genetics effects our risk of disease. It is one part of our world leading set of genomics programmes, including the NHS’ Genomics Medicine Service and the Accelerated Detection of Disease challenge, and shows that the UK is the go-to destination for genomics research and development.”

Sir Mark Walport, Chief Executive of UK Research and Innovation said:

“As one of the half million participants in UK BioBank, I’m very excited by the potential of the Whole Genome Sequencing Project, which will sequence the genetic code of everyone in UK BioBank to help develop novel and personalised forms of healthcare.

“UK BioBank is globally unique in the depth and quality of the information that it contains about so many people in health and disease. Adding whole genome sequencing data to this will provide major opportunities to improve how we prevent, diagnose and treat the chronic conditions that afflict so many of us as we live longer lives.”

 Sir Michael Rawlins, Chair of UK Biobank’s Board, said:

“We are delighted that government, charity and industry have come together to unleash the full potential of UK Biobank by supporting the sequencing of all the participants. It is a tribute to the altruism of the half million people who agreed to be part of UK Biobank, and it recognises the valuable findings that have already emerged from the project. Scientists around the world will be eager to use these genetic data in imaginative ways to further improve the health of the public.”

Sara Marshall, Head of Clinical Research and Physiological Sciences at Wellcome, said:

“This exciting new project will help scientists and doctors develop new ways of preventing, diagnosing and treating a range of life changing diseases such as cancer and dementia. By sequencing the genomes of the UK Biobank participants, the research community will have an unprecedented resource to gain new insights into human disease. This work would not be possible without the generous support of the 500,000 participants of the UK Biobank who, without any direct benefit to themselves, have allowed their lives to be studied through blood tests, body scans and information from their medical records all in the hope that it will benefit others.”

John Lepore, Senior Vice President, Research at GlaxoSmithKline (GSK) said:

“This historic whole genome sequencing effort is a welcome asset for researchers and testament to the volunteers who believe in the power of data to advance science.  Genetically validated drug candidates are twice as likely to become registered novel medicines [1], and efforts like this bring us closer to developing transformational medicines that can significantly improve patient health and change lives.” [1] Nelson et al (2015) The support of human genetic evidence for approved drug indications https://www.nature.com/articles/ng.3314

Mene Pangalos, Executive Vice President, BioPharmaceuticals R&D, AstraZeneca, said:

“Whole genome sequencing on this scale is unprecedented, and through this collaboration we hope to unlock the potential of genomics to evolve our understanding of complex diseases such as cancer, heart disease and chronic kidney disease.

“These new insights will guide our drug discovery programme and will help us bring innovative new precision medicines to patients who need them most urgently.”

Richard Tillyer, Ph.D., Global Head, Discovery, Product Development & Supply, Janssen Research & Development, LLC, one of the Janssen Pharmaceutical Companies of Johnson & Johnson said:

“We are proud to participate in this ground-breaking initiative to generate genomics data from samples obtained through the generosity of volunteers in the United Kingdom. The insights gained from the analysis of this rich data set will guide our efforts to develop safe and effective therapies so that diseases aren’t just being treated, they are predicted, preempted and stopped in their tracks to help generations of people live their healthiest lives.”

David M. Reese, M.D., executive vice president of Research and Development at Amgen, said:

“We are pleased to partner on a project with immense potential to advance public health. This collaboration reflects our belief in the power of human genetics to transform medicine and the need for continued growth in the size and diversity of the data that can be mined for new discoveries for patients with serious life-threatening diseases.”

Paula Dowdy, Illumina’s Senior Vice President and General Manager, EMEA, said:

“illumina would like to thank the Biobank volunteers who have generated this invaluable resource over more than a decade. We are proud to support the project through the use of whole genome sequencing technology and unlock the power of 450,000 genomes to deliver world-leading genetic data that could transform the lives of so many.”

Dr Cordelia Langford, Director of Scientific Operations at the Wellcome Sanger Institute, said:

“We are thrilled to be contributing to the UK Biobank project by sequencing 225,000 whole human genomes. Together with deCODE in Iceland, we will read and assemble the whole genome sequences of 500,000 volunteers, and these data will transform the way we carry out research into human health and disease. A dataset of this magnitude will be incredibly powerful for understanding the genetic architecture that contributes to disease and we are one of only a few institutes in the world with the technical and scientific expertise to undertake a project of this scale.” 

Kari Stefansson, CEO of deCODE Genetics, a wholly-owned subsidiary of Amgen, said:

 “deCODE is taking human genetic research to a new level, applying the methods we pioneered in Iceland to lead a worldwide search for disease genes. As drug development programs backed by genetics are twice as likely to succeed, our sequencing capabilities will be essential to the collaboration, and the broader scientific community, to identify and validate promising drug targets for some of the most challenging diseases patients face.”

Notes for Editors

[1] The 500,000 participants to UK Biobank project were recruited between 2006 and 2010 and have consented to their medical records being linked to a range of physical measurements and biological samples collected at the recruitment. Participants were recruited between the ages of 40 and 69 and the focus of the project is to investigate the factors that lead to a range of late-onset conditions. The large scale of the project allows the interplay of genetic and environmental factors to be evaluated and the prospective nature of the study means that it will allow the identification of early indicators of disease prior to clinical diagnosis.  Although the records are collected for each participant, each participant is anonymised, so the individual is not identifiable in any of the research.

[2] Contract entered by Janssen Biotech, Inc., one of the Janssen Pharmaceutical Companies of Johnson & Johnson; collaboration facilitated by the Johnson & Johnson EMEA Innovation Centre in London, UK

About UK Research and Innovation

UKRI is a new body which works in partnership with universities, research organisations, businesses, charities, and government to create the best possible environment for research and innovation to flourish. We aim to maximise the contribution of each of our component parts, working individually and collectively. We work with our many partners to benefit everyone through knowledge, talent and ideas. Operating across the whole of the UK with a combined budget of more than £7 billion, UKRI brings together the seven Research Councils, Innovate UK and Research England.

About from data to early diagnosis and precision medicine challenge

Identifying diseases and conditions early is usually the best way to contain them later on. They can be mitigated, managed and made to have a less serious impact on a patient’s quality of life.

Once diagnosed, it’s important that a patient gets the right treatment. Through an improved understanding of a disease and its characteristics, it means that the best treatment for the individual can be selected first time. Through this challenge the government will fund industry and research to combine data and real-world evidence from our health service and create new products and services that diagnose diseases earlier and more efficiently. Up to £210 million will be made available to industry and researchers to improve how we use data to support earlier diagnosis and the development of precision medicine.

About UK BioBank

UK Biobank is a non-profit charitable company which had initial funding of about £62 million.

It was established by the Wellcome Trust medical charity, Medical Research CouncilDepartment of HealthScottish Government and the Northwest Regional Development Agency. It has also had funding from the Welsh GovernmentBritish Heart FoundationCancer Research UK and Diabetes UK. The UK Biobank data are available to all bona fide researchers, whether in academia or industry, anywhere in the world.  

The Wellcome Sanger Institute

The Wellcome Sanger Institute is a world leading genomics research centre. We undertake large-scale research that forms the foundations of knowledge in biology and medicine. We are open and collaborative; our data, results, tools and technologies are shared across the globe to advance science. Our ambition is vast – we take on projects that are not possible anywhere else. We use the power of genome sequencing to understand and harness the information in DNA. Funded by Wellcome, we have the freedom and support to push the boundaries of genomics. Our findings are used to improve health and to understand life on Earth. Find out more at www.sanger.ac.uk or follow us on Twitter, Facebook, LinkedIn and on our Blog.

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