"Improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia."
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease. It began in 2006.[1][2][3][4] UK Biobank has been cited as an important resource for cancer research.[5]
UK Biobank was conceived in the early 2000s,[12] with Professor Sir Rory Collins appointed as the Principal Investigator and Chief Executive of UK Biobank in 2005.[13] An incremental approach was adopted to developing the study procedures and technology, using systems designed and developed by the Clinical Trial Service Unit. This consisted of a series of pilot studies of increasing complexity and sophistication with interludes for assessment of results and additional scientific input. In-house trials were conducted during 2005, and a fully integrated clinic was run at Altrincham, Greater Manchester throughout Spring 2006 where 3,800 individuals were assessed. On 22 August 2006, it was announced that the main programme would recruit men and women aged between 40 and 69 based from up to 35 regional centres.[14]
Following the initial pilot stage in the 2005-6 period,[15] the main study began in April 2007 and by the end of that year 50,000 people had taken part. Recruitment reached 100,000 in April 2008, 200,000 in October 2008, 300,000 in May 2009, 400,000 in November 2009 and passed the 500,000 target in July 2010. The volunteers were largely healthy, wealthy and white European. Rather than recruiting more participants into the biobank, the organisation is helping other institutions establish and run similar initiatives.[16] Participant enrolment was declared complete in August 2010.[17] However recruitment proved more efficient than hoped and only 22 centres had been opened when the recruitment target of 500,000 was reached in 2010.
In May 2023, UKRI announced that UK Biobank was set to receive £127.6m to move to a purpose-built facility at Bruntwood SciTech's Manchester Science Park.[18]
In October 2023, a number of funders including Eric Schmidt and Ken Griffin announced further funding for the next five years.[19][20]
The study is following about 500,000 volunteers in the UK, enrolled at ages from 40 to 69. Initial enrollment took place over four years from 2006, and the volunteers will be followed for at least 30 years thereafter.[21]
Prospective participants were invited to visit an assessment centre, at which they completed an automated questionnaire and were interviewed about lifestyle, medical history and nutritional habits; basic variables such as weight, height, blood pressure etc. were measured; and blood and urine samples were taken. These samples were preserved so that it was possible to later extract DNA and measure other biologically important substances. During the whole duration of the study it was intended that all disease events, drug prescriptions and deaths of the participants are recorded in a database, taking advantage of the centralized UK National Health Service.[22][23]
During the initial physical examination, basic feedback was provided to the participant regarding their weight, height, BMI, blood pressure, lung vital capacity, bone density and intra-ocular pressure; however if any other medical problems were detected, neither the participant nor their physician would be notified. Problems detected later, such as genetic risk factors, were not conveyed to either participant or physician ("to ensure that volunteers are not penalised by insurance companies, for example, which may require customers to disclose the results of any genetic tests.").[24]
From 2012, researchers were able to apply to use the database (though they are not given access
to the volunteers, who will remain strictly anonymous).
A typical study using the database might compare a sample of participants who developed a particular disease, such as cancer, heart disease, diabetes or Alzheimer's disease, with a sample of those that did not, in an attempt to measure the
benefits, risk contribution and interaction of specific genes, lifestyles, and medications.
In 2017 researchers were able to access the database including genetic information.[25][26] By 2017 Biobank participants had approximately 1.3 million hospitalisations, 40,000 cancer incidents with 14,000 of them having died.[27]
Since the completion of recruitment several new types of data have been added:
During 2011-12 participants who supplied an email address were asked to assist by completing web-based dietary questionnaires, with the aim of combining a series of daily 'snapshots' to form a picture of overall nutrition. 176,012 of the participants responded at least once and 27,535 completed four questionnaires over a 16-month period.[27]
During 2012–13 25,000 participants at the Stockport centre were asked to attend the assessment centre to repeat the initial measurements. It was intended to repeat these assessments every few years.[27]
In 2013 to 2015, Axivity AX3 tri-axial wrist physical activity monitors were distributed to 100,000 participants, which recorded week-long triaxial acceleration at 100 Hz.[28][29] This data was centrally processed, and listed on the Data Showcase.[30][31]
In 2014 and 2015 120,000 participants completed a questionnaire on cognitive functions. Four of the tests were repeats of the initial assessment and two tests (symbol digit substitution and trail making) were new.[27]
In 2015 and 2016, 117,500 participants completed questionnaires on occupational history and related medical information.[27]
In 2016 and 2017 137,400 participants completed questionnaires on mental health events including subjective well-being estimates, psychotic experiences, self-harm behaviours, traumatic events and cannabis and alcohol use.[27]
A genomic assay of 820,967 SNPs was conducted on the participants blood samples. Data from an initial 150,000 participants were released in 2015, the remainder in July 2017,[32][26] and the first results in October 2018.[33][34]
Information from UK registries of death (from 2006) and cancer (Scotland from 1957, England and Wales from 1995) were linked to the main Biobank dataset on an ongoing basis.[27]
Data from NHS hospital inpatient records (England from 1996, Scotland from 1997 and Wales from 1998) were linked to the main dataset on an ongoing basis.[27]
In 2019 exome sequence data from 50,000 persons was released, with 200,000 being available by 2020.[35]
In 2020 20,000 volunteers agreed to collect and send a monthly blood sample for analysis of SARS-CoV-2 antibodies. They included existing Biobank participants and their children and adult grandchildren living in separate households.[36]
In 2021 NMR metabolomic data on approximately 121,000 persons was released.[37]
In June 2021 a subset of volunteers who had acknowledged that they had already received at least their first Covid-19 vaccine dose, were asked to participate in a study to determine if their Covid-19 antibodies were as a result of their vaccination or from a prior infection.
In 2018 a number of projects were underway to generate additional data:
A set of additional assays on the blood and urinary samples were being conducted in 2016 and 2017[27] with blood results expected to be released in Q4/2018.
A new type of assessment centre opened in 2014 to collect imaging data. The visits extended the initial dataset to include magnetic resonance imaging (MRI) scans of brain[38][39][40][41] heart and abdomen, as well as neck-to-knee volumetric MRI scans, whole body dual-energy X-ray absorptiometry (DXA) scan of bones and joints, ultrasound measurements of the carotid arteries and resting 12-lead electrocardiogram (ECG). Initial data on 4,000 participants was released at the end of 2015 and by mid-2018 over 25,000 participants had been scanned. It is planned to scan 100,000 participants by 2022, and to do additional repeat scans on 10,000 of these 2–3 years later.[27]
A subset of 2500 participants are being asked to repeat the Activity Study at quarterly intervals for a year to gauge the size of seasonal effects.
In 2018 there were several plans, either provisional or underway, for enhancing the resource:
Primary care data (such as referrals, diagnoses and prescriptions) were planned to be made available in 2018–2019.[27]
Linking data from NHS hospital outpatient records and GP to the main dataset were being investigated in 2018.[27]
Linkages to disease-specific registries and screening programs were also being investigated in 2018.[27]
Exome sequencing is underway with the first batch of 50,000 sequences due to be released in mid-2019.
Following the initial pilot stage in the 2005-6 period, the main study began in April 2007 and by the end of that year 50,000 people had taken part.
Recruitment reached 100,000 in April 2008, 200,000 in October 2008, 300,000 in May 2009, 400,000 in November 2009 and passed the 500,000 target in July 2010. Participant enrollment was declared complete in August 2010.[42] The volunteers were largely healthy, wealthy and white European. Rather than recruiting more participants into the biobank, the organisation is helping other institutions establish and run similar initiatives.[43]
The UK Biobank dataset was opened to applications from researchers in March 2012.[44] The resource is available to scientists from the UK and outside, whether they work in the public or private sector, for industry, academia or a charity, subject to verification that the research is health-related and in the public interest. Researchers are required to publish their results in an open source publication site or in an academic journal and return their findings to the UK Biobank.[27] By April 2017 4,600 researchers had registered to use the resource, over 880 applications had been submitted[45] and 430 research projects were completed or underway. 130 peer-reviewed articles based on the UK Biobank data had been published by January 2017.[27][46]
A 2023 review found that participants with sense of meaning and purpose in life have a decreased risk of dementia.[48] Two other studies of participants in the UK Biobank study found that dementia risk was higher for those who were more socially isolated.[49]
A study from the UK Biobank showed a reduction in grey matter thickness, overall reduction in brain size and greater cognitive decline in patients after COVID-19 compared with control groups.[50][51] The UK Biobank also reported on an increased risk of hospitalization for those who contracted COVID-19 with obesity.[52]
Reviews of UK Biobank data have found that pescatarians and vegetarians have a lower risk of colorectal and prostate cancer compared to red meat eaters.[53] Consumption of processed meat increases risk of breast cancer.[54] They have also found that men with higher total and central adiposity have an increased risk of prostate cancer death.[55]
The UK Biobank project operates within the terms of an Ethics and Governance Framework.[56][57][58] The Framework describes a series of standards to which UK Biobank will operate during the creation, maintenance and use of the resource and it elaborates on the commitments that are involved to those participating in the project, researchers and the public more broadly. The independent UK Biobank Ethics and Governance Council provides advice to the project and monitors its conformity with the Framework.[59] The Council also advises more generally on the interests of research participants and the general public in relation to the project.[citation needed]
The project has been generally praised for its ambitious scope and unique potential. A scientific review panel concluded, the "UK Biobank has the potential, in ways that are not currently available elsewhere, to support a wide range of research".[42]Colin Blakemore, chief executive of the MRC, predicted it "will provide scientists with extraordinary information"[61] and "grow into a unique resource for future generations."[42]
There was some early criticism, however. GeneWatch UK, a pressure group that claims to promote the responsible use of genetic information, asserted that the complexity of the programme could result in the finding of "false links between genes and disease",[42] and expressed concern that the genetic information from patients could be patented for commercial purposes. Biobank's chief executive described such a risk as "extremely low, if it exists at all."[61]
Some literature has raised concerns that the UK Biobank is not representative of the diversity of the UK population or is not applicable to diverse populations.[62][63]
The UK Biobank is funded by the UK Department of Health, the Medical Research Council, the Scottish Executive, and the Wellcome Trust medical research charity. The cost of the initial participant recruitment and assessment phase was 62 million GBP.[64]
^Alfaro Almagro, F. (25 April 2017). "Image Processing and Quality Control for the first 10,000 Brain Imaging Datasets from UK Biobank". bioRxiv10.1101/130385.