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UK mass gene sequencing breakthrough

Data from 500,000 volunteers will help develop new cancer, heart and diabetes treatments

Mark Gould

Thursday, 23 March 2017

Genetic data from UK Biobank's 500,000 volunteer participants will be used in a new research partnership with two multinational pharmaceutical companies to develop new cancer, heart and diabetes treatments.

UK Biobank, which describes itself as "the world's most comprehensive health resource", is funded by the Medical Research Council, Wellcome Trust, Department of Health, Welsh Government, Scottish Government, British Heart Foundation, Cancer Research UK and Diabetes UK.

Its 500,000 participants have provided information about their health, wellbeing and lifestyle, as well as blood and other biological samples for long-term storage and analysis. In addition, they have agreed to have their health followed through medical records for many years. Scientists from around the world are able to use the resource for research intended to improve the prevention and treatment of a wide range of common disorders.

Now US-based biotech company Regeneron Genetics Enter (RGC) and pharmaceutical giant GSK have announced plans to generate genetic sequence data using anonymised samples from all 500,000 UK Biobank volunteers. They say the initiative will enable researchers to gain valuable insights to support advances in the development of new medicines for a wide range of serious and life-threatening diseases.

Currently, an estimated 90% of potential medicines entering clinical trials fail to demonstrate the necessary efficacy and safety, and never reach patients. Many of these failures are due to an incomplete understanding of the link between the biological target of a drug and human disease. By contrast, medicines developed with human genetic evidence have had substantially higher success rates and patient care has benefited.

RGC and GSK have committed an initial investment to enable the sequencing of the first 50,000 samples, to be completed before the end of 2017. Sequencing of the samples will be performed at the RGC facility in New York State, one of the world's largest human genetics sequencing centres. Sequencing of the full 500,000 samples is expected to take three to five years.

Consistent with the founding principles of UK Biobank, these sequence data will be incorporated back into UK Biobank's resource following a standard exclusivity period for GSK and Regeneron (nine months for the initial phase) and made openly available to the broader scientific community. Research findings will also be submitted for publication in peer-reviewed journals.

"As a result of the altruism and continued support of our volunteer participants, UK Biobank has amassed an enormous amount of securely-stored health, lifestyle, medical and biological data. Genetics research is already shaping better treatments. This exciting initiative is expected to start producing novel findings rapidly during this year and will make UK Biobank even more useful for health-related research," said Sir Rory Collins, UK Biobank Principal Investigator who is Professor of Medicine & Epidemiology at Oxford University.

He added: "UK government and charity medical research funders have invested about £200 million in UK Biobank. The costs of gene sequencing are falling, but doing it on a large scale involves highly-specialised capabilities and is expensive – with an estimated cost of $150 million if all 500,000 participants are sequenced. That is why academia and industry working together is so important. The initial investment by GSK and Regeneron will be a tremendous boost to the value of the UK Biobank resource for academic and industry researchers around the world, studying many different conditions."

The RGC has previously sequenced DNA samples from more than 150,000 individuals and is now sequencing at a rate exceeding 150,000 individuals per year. The centre has successfully applied large-scale human genetics to discover new drug targets and validate existing development programmes, and has collaborated with more than 35 institutions around the world.

"Our large-scale sequencing and analysis capabilities, coupled with UK Biobank's vast trove of de-identified biological and medical information, pose tremendous opportunities for clinically meaningful discoveries that can make a difference for patients," said George D Yancopoulos, the President and Chief Scientific Officer of Regeneron.

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