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WHOLE GENOME SEQUENCING: Transforming health

A ground-breaking initiative to sequence the whole genomes of 450,000 UK participants has been announced. The venture is funded by government, charity and industry and is in addition to the 50,000 volunteer samples already being sequenced by UK Biobank with funding from the MRC. It is the biggest endeavour of its kind ever undertaken, and will transform the way in which scientists study health.

What is the purpose of whole treatments. In UK Biobank’s Why is this important? genome sequencing? case, the genome from a single UK Biobank’s goal, with your person is of no real interest. support and the support of turns samples into However, by making it possible our other 500,000 volunteer usable data. Sequencing all for researchers to participants, is to create of the participants in UK compare thousands of a resource of detailed Biobank means that these data genomes – or hundreds of information that will help can be readily shared among thousands – patterns will scientists find out why some all approved researchers, emerge, differences will people get illnesses like , anywhere in the world, become clearer and the heart , and whenever they are needed. impact on a wide range of depression and others do not. Each individual has a unique of individual or With knowledge, comes the genetic code of 3 billion combination of genes, along power to produce change. building blocks. These make up with lifestyle and envrionment, Detailed information on the 24,000 active genes (and are likely to be found. This genetics, linked to lots of other much more) inside a human might suggest new ways information about your lives, cell that control biochemical to tackle disease, and help the illnesses you get and how processes that underpin life. identify people at higher risk, you are treated will boost The vast majority of genes so that preventive strategies understanding, and speed up are the same in everyone, but such as screening programmes advances in health care. small changes account for our can be better targeted. differences, and can make us more susceptible to illness, or affect the way we respond to

How will participants’ privacy be protected? UK Biobank has a number of systems in place to ensure that you are not identified when data you have generously provided is used for health research. For instance, data are separated at the point of collection from personal information (such as name, date of birth) and retained separately. Data are also extensively encrypted and access to the decryption keys is very limited (to those that need them). Further, when data are released to researchers they are fully de-identified. In addition, all research is undertaken under a legal agreement with UK Biobank which prohibits any researchers from identifying participants.

Will UK Biobank participants be identifiable through the data? No, identifiable data are not provided to researchers. Where will the sequencing take place? Having gained UK Biobank approval for the sequencing, the applicants appointed the Wellcome Sanger Institute and deCODE in to conduct the next phase of work in roughly equal measures. UK Biobank will provide them with a small portion of blood, currently stored at minus 80 degrees in our Coordinating Centre in Stockport, from each participant. They will then provide the sequence data to UK Biobank. Why now? In recent years, advances in technology have revolutionised the time it takes to sequence the human genome, and the cost involved. The first human genome was sequenced in 2003 after several years and at a cost of nearly US $3Bn. It is now feasible to sequence large numbers very much more rapidly and at far lower costs. Sequencing all 500,000 UK Biobank Who is funding the work? participants now will deliver the project’s genetic promise A pilot project (the Vanguard) very much quicker than would have been expected when to sequence the whole recruitment began in 2006. genomes of 50,000 UK Biobank participants is already When will the genetic data participants) linked to all underway. (You may remember be used for research? of the other data in the UK reading about its launch in last Scientists are already using Biobank resource. year’s Newsletter.) The £30 participants’ genetic data million funding was provided in the form of • After an exclusive access to UK Biobank by the UK’s and exome sequence data. period of 9 months to the Medical Research Council However, these data make benefit of the applicants, (MRC) and the sequencing is up only a proportion of the these data will be made being done at the Wellcome human genome. It is intended available to all other Sanger Institute in Cambridge. to complete the whole approved researchers genome sequencing of all around the world in March This new project, to sequence 500,000 participants during 2021. the other 450,000 participants, the next 2 years. An outline is funded by government, timetable is as follows: • Similarly, after completing charity and industry: the sequencing of all • At the end of May 2020, 500,000 participants in • £50 million from the the four pharmaceutical early 2022, the consortium government’s UK Research companies will be provided will again have exclusive & Innovation (UKRI) with access for analysis to access to these linked data Industrial Strategy Challenge the first tranche of for 9 months before all of Fund; sequence data (anticipated the data are made widely to be for about 125,000 available by the end of • £50 million from the charity 2022. The ; Why do the industry partners get an exclusive period to use the data? • £100 million (£25 million With government, industry and charity working together, each) from four of the a vast amount of genetic data will be made available to world’s leading the health research community. Without this investment pharmaceutical companies, from industry, these data would not be available. Providing GlaxoSmithKline (GSK), an exclusive period has already been used successfully AstraZeneca (AZ), Johnson & to secure the investment for exome sequencing led by Johnson (J&J) and Amgen. Regeneron and partners. Those exome data are now available to health researchers, and more than 100 health studies using them are now under way. What other genetic analyses have taken place?

This new sequencing work supports other genetic analyses which are already contributing to research:

• Genotyping (completed) – analysis of around 800,000 key points of the 3 billion building blocks that make up the human genome. This enables statisticians to impute (i.e. estimate, based on past analysis) a further 90 million points;

• Exome sequencing (under way) – this involves the study of about 3% of the human genome, and targets the active genes that produce proteins that build cells and control cell activity. 50,000 exomes were sequenced in a joint venture by the pharmaceutical companies GSK in the UK and Regeneron in the US. The first exome sequenced data were released to the global research community in March 2019. Regeneron and a consortium of five other companies are now exome sequencing the other 450,000 samples. Again, these data will be made available to other researchers, with an additional 100,000 exomes to be released in April 2020.

How will UK Biobank and and last year UK Biobank health research benefit from featured in one of the most this collaboration? prestigious, Nature. New Researchers are already release of sequence data will using UK Biobank genetic provide even more impetus information, linked to a wide for research to bring about range of health outcomes, advances in preventing and to study health. Many treating a wide range of studies have published in disorders more quickly. expert scientific journals, Is there a requirement that their findings public and tell results must be published us what, if anything, they within a particular time? have patented or otherwise If so, when and where? found out that is significant All researchers using the for health. Researchers are UK Biobank resource are also obliged to return their required to report annually results to UK Biobank so that on the progress of their work. other researchers can benefit They are expected to make from them. How big – and how important you provided when you joined data on 100,000, eye measures – is this development? the study, and subsequent on 80,000 and a number UK Biobank is of national enhancements (genotyping all of well-supported online and international strategic 500,000 participants, exome questionnaires). Research importance in the global effort sequencing currently under based on all of this information to improve health. The addition way, detailed imaging of will contribute to better of whole genome sequencing 100,000 participants, links to treatments and improved is tremendously exciting. It health records, biochemistry prevention and diagnosis in the builds on the baseline data on 500,000, week-long activity coming years.

What is the benefit for UK the potential benefits for the Biobank participants and the wider public (including UK wider public? Biobank participants) of having On joining UK Biobank, these whole genome sequence you were told that your data available for research are participation may be of no enormous in understanding and direct benefit to you, but treating diseases. Your data and that it was an investment samples now comprise one of for future generations. UK (if not the) most extensive and Biobank does not provide widely used research resources feedback to participants, but worldwide.

Relevant links:

Whole genome sequencing – first 50,000 announced:https://www.ukbiobank.ac.uk/2018/04/ whole-genome-sequencing-will-transform-the-research-landscape-for-a-wide-range-of- diseases/

UK Biobank genetics in the news:https://www.ukbiobank.ac.uk/genetics-in-the-news/

Tantalising and exciting: UK Biobank genetics opens the door to a new era of health research: http://www.ukbiobank.ac.uk/2018/10/tantalising-and-exciting-uk-biobank-genetics- opens-the-door-to-a-new-era-of-health-research-2/