Jump to content

UK Biobank

From Wikipedia, the free encyclopedia

UK Biobank
UK Biobank Co-ordinating and Assessment Centre
Mission statement"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."
Commercial?No
LocationStockport, Greater Manchester, UK
FounderRory Collins
EstablishedJanuary 2007 (2007-01)
Websitewww.ukbiobank.ac.uk

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]

Based in Stockport, Greater Manchester, it is incorporated as a limited company[6] and registered charity[7] in England and Wales, and registered as a charity[8] in Scotland.[9][10][11]

History and development

[edit]

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]

Design

[edit]

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]

Initial information collected

[edit]

The study was initially launched with a visit consisting of the following:[27]

Once the visit-based assessment method was proven, the range of investigations was extended to include:[27]

Extensions

[edit]

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.

Ongoing developments

[edit]

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.

Recruitment

[edit]

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]

Access to UK Biobank

[edit]

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]

Findings

[edit]

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.[47] Consumption of processed meat increases risk of breast cancer.[48] They have also found that men with higher total and central adiposity have an increased risk of prostate cancer death.[49]

A 2022 review of UK Biobank data found that road traffic noise exposure increases risk of CVD mortality, stroke and all-cause mortality.[50] A 2023 review found that participants with sense of meaning and purpose in life have a decreased risk of dementia.[51]

Ethics and governance

[edit]

The UK Biobank project operates within the terms of an Ethics and Governance Framework.[52][53][54] 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.[55] The Council also advises more generally on the interests of research participants and the general public in relation to the project.[citation needed]

The UK Biobank Board is accountable to the members of the company (the Medical Research Council and The Wellcome Trust) and acts as company directors and as charity trustees. It is chaired by Lord Kakkar,[56] who succeeded Sir Michael Rawlins in January 2020.

Opinion

[edit]

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"[57] 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."[57]

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.[58][59]

Funding

[edit]

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.[60]

See also

[edit]

References

[edit]
  1. ^ UK Biobank home page
  2. ^ UK Biobank data showcase enumerating currently available data
  3. ^ UK Biobank Ethics and Governance Council home page
  4. ^ Will Biobank Pay Off? – 2003 BBC article mentions criticisms of UK Biobank
  5. ^ Conroy MC, Lacey B, Bešević J, Omiyale W, Feng Q, Effingham M, Sellers J, Sheard S, Pancholi M, Gregory G, Busby J, Collins R, Allen NE. (2023). "UK Biobank: a globally important resource for cancer research". British Journal of Cancer. 128: 519–527. doi:10.1038/s41416-022-02053-5. PMC 9938115. PMID 36402876.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. ^ Registration number 4978912
  7. ^ "UK Biobank, registered charity no. 1101332". Charity Commission for England and Wales.
  8. ^ "UK Biobank, Registered Charity no. SC039230". Office of the Scottish Charity Regulator.
  9. ^ Sudlow, Cathie; Gallacher, John; Allen, Naomi; Beral, Valerie; Burton, Paul; Danesh, John; Downey, Paul; Elliott, Paul; Green, Jane; Landray, Martin; Liu, Bette; Matthews, Paul; Ong, Giok; Pell, Jill; Silman, Alan; Young, Alan; Sprosen, Tim; Peakman, Tim; Collins, Rory (2015). "UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age". PLOS Medicine. 12 (3): e1001779. doi:10.1371/journal.pmed.1001779. PMC 4380465. PMID 25826379.
  10. ^ Allen, N. E.; Sudlow, C.; Peakman, T.; Collins, R. (2014). "UK Biobank Data: Come and Get It". Science Translational Medicine. 6 (224): 224ed4. doi:10.1126/scitranslmed.3008601. PMID 24553384. S2CID 206684216.
  11. ^ Collins, Rory (2012). "What makes UK Biobank special?". The Lancet. 379 (9822): 1173–1174. doi:10.1016/S0140-6736(12)60404-8. PMID 22463865. S2CID 205965558.
  12. ^ Sample, Ian (30 November 2023). "UK Biobank and the masses of medical data that became key to genetic research". The Guardian.
  13. ^ Coghlan, Andy (30 March 2012). "Biobank promises to pinpoint the cause of disease". New Scientist. New Scientist.
  14. ^ Hall, Sarah (21 August 2006). "£61m medical experiment begins". The Guardian. The Guardian.
  15. ^ Coghlan, Andy (21 August 2006). "Project to link genes, lifestyle and health gets go-ahead". New Scientist. New Scientist.
  16. ^ "How 500,000 Britons are critical to assessing global disease risk". Financial Times. 22 August 2018. Retrieved 1 October 2018.
  17. ^ "Biobank set for national roll out". BBC News. 21 August 2006.
  18. ^ Hatmaker, Julia (25 May 2023). "UK Biobank confirms move to Manchester Science Park". Place North West.
  19. ^ "UK Biobank to scale though £32m philanthropic partnership". BusinessCloud. 31 October 2023.
  20. ^ Peel, Michael; Agnew, Harriet (29 October 2023). "Ken Griffin and Eric Schmidt invest $10mn each in UK genetics database". www.ft.com. Financial Times.
  21. ^ Fry, Anna; Littlejohns, Thomas J; Sudlow, Cathie; Doherty, Nicola; Adamska, Ligia; Sprosen, Tim; Collins, Rory; Allen, Naomi E (1 November 2017). "Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population". American Journal of Epidemiology. 186 (9): 1026–1034. doi:10.1093/aje/kwx246. ISSN 0002-9262. PMC 5860371. PMID 28641372.
  22. ^ Draft protocol for the UK Biobank Archived 2006-02-14 at the Wayback Machine, 14 February 2002
  23. ^ Reviewers' comments on Draft protocol, and responses
  24. ^ Andy Coghlan: One million people, one medical gamble. New Scientist, 20 January 2006
  25. ^ Regalado, Antonio (15 November 2017). "UK Biobank supercharges medicine with gene data on 500,000 Brits". MIT Technology Review. Retrieved 25 June 2018.
  26. ^ a b Zhang, Sarah (6 November 2017). "What Happens When You Put 500,000 People's DNA Online". The Atlantic. Retrieved 7 November 2017.
  27. ^ a b c d e f g h i j k l m n o p q Littlejohns, Thomas J.; Sudlow, Cathie; Allen, Naomi E.; Collins, Rory (2017). "UK Biobank: opportunities for cardiovascular research". European Heart Journal. 40 (14): 1158–1166. doi:10.1093/eurheartj/ehx254. PMC 6451771. PMID 28531320.
  28. ^ (2015) UK Biobank; Large Scale Data Collection Axivity company web page, Retrieved 30 March 2015
  29. ^ "AX3 3-axis logging accelerometer". Open Movement. 8 December 2020. Retrieved 8 December 2020.
  30. ^ Doherty, Aiden; et al. (1 February 2017). "Large Scale Population Assessment of Physical Activity Using Wrist Worn Accelerometers: The UK Biobank Study". PLOS ONE. 12 (2): e0169649. Bibcode:2017PLoSO..1269649D. doi:10.1371/journal.pone.0169649. PMC 5287488. PMID 28146576.
  31. ^ "Showcase: Physical activity measurement". UK Biobank Data. Retrieved 16 March 2022.
  32. ^ Welsh, Samantha; Peakman, Tim; Sheard, Simon; Almond, Rachael (1 January 2017). "Comparison of DNA quantification methodology used in the DNA extraction protocol for the UK Biobank cohort". BMC Genomics. 18 (1): 26. doi:10.1186/s12864-016-3391-x. ISSN 1471-2164. PMC 5217214. PMID 28056765.
  33. ^ Clare, B. (2018). "The UK Biobank resource with deep phenotyping and genomic data". Nature. 562 (7726): 203–209. Bibcode:2018Natur.562..203B. doi:10.1038/s41586-018-0579-z. PMC 6786975. PMID 30305743.
  34. ^ Elliott, L.T. (2018). "Genome-wide association studies of brain imaging phenotypes in UK Biobank". Nature. 562 (7726): 210–216. Bibcode:2018Natur.562..210E. doi:10.1038/s41586-018-0571-7. PMC 6786974. PMID 30305740.
  35. ^ "UK Biobank makes available new exome sequencing data". www.ukbiobank.ac.uk. 26 October 2020. Retrieved 13 March 2021.
  36. ^ "UK Biobank reveals substantial variation in rates of previous COVID-19 infection across the UK". www.ukbiobank.ac.uk. UK Biobank. 30 July 2020. Retrieved 18 August 2020.
  37. ^ Ritchie, Scott C.; Surendran, Praveen; Karthikeyan, Savita; Lambert, Samuel A.; Bolton, Thomas; Pennells, Lisa; Danesh, John; Di Angelantonio, Emanuele; Butterworth, Adam S.; Inouye, Michael (2023). "Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participants". Scientific Data. 10 (1): 64. Bibcode:2023NatSD..10...64R. doi:10.1038/s41597-023-01949-y. PMC 9887579. Retrieved 12 September 2023.
  38. ^ Miller, K.L. (2016). "Multimodal population brain imaging in the UK Biobank prospective epidemiological study". Nature Neuroscience. 19 (11): 1523–1536. doi:10.1038/nn.4393. PMC 5086094. PMID 27643430.
  39. ^ Alfaro-Almagro, F. (2016). "Image processing and Quality Control for the first 10,000 brain imaging datasets from UK Biobank". NeuroImage. 19: 1523–1536. doi:10.1016/j.neuroimage.2017.10.034. PMC 5770339. PMID 29079522.
  40. ^ Alfaro Almagro, F. (25 April 2017). "Image Processing and Quality Control for the first 10,000 Brain Imaging Datasets from UK Biobank". bioRxiv 10.1101/130385.
  41. ^ Smith SM, Douaud G, Chen W, Hanayik T, Alfaro-Almagro F, Sharp K; et al. (2021). "An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank". Nat Neurosci. 24 (5): 737–745. doi:10.1038/s41593-021-00826-4. PMC 7610742. PMID 33875891.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  42. ^ a b c d Biobank set for national roll out. BBC News, 21 August 2006
  43. ^ "How 500,000 Britons are critical to assessing global disease risk". Financial Times. 22 August 2018. Retrieved 1 October 2018.
  44. ^ (30 March 2012) UK biobank opens to researchers BBC News, Health, Retrieved 30 March 2015
  45. ^ "Approved research summary". UK Biobank. 31 May 2017. Retrieved 8 November 2017.
  46. ^ "Published papers, Featured Publications". UK Biobank. Retrieved 8 November 2017.
  47. ^ Parra-Soto S, Ahumada D, Petermann-Rocha F, Boonpoor J, Gallegos JL, Anderson J, Sharp L, Malcomson FC, Livingstone KM, Mathers JC, Pell JP, Ho FK, Celis-Morales C. (2022). "Association of meat, vegetarian, pescatarian and fish-poultry diets with risk of 19 cancer sites and all cancer: findings from the UK Biobank prospective cohort study and meta-analysis". BMC Med. 20 (1): 79. doi:10.1186/s12916-022-02257-9. hdl:10536/DRO/DU:30173735. PMID 35655214.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  48. ^ Anderson JJ, Darwis NDM, Mackay DF, Celis-Morales CA, Lyall DM, Sattar N, Gill JMR, Pell JP. (2018). "Red and processed meat consumption and breast cancer: UK Biobank cohort study and meta-analysis". Eur J Cancer. 90: 73–82. doi:10.1016/j.ejca.2017.11.022. PMID 29274927.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  49. ^ Perez-Cornago A, Dunneram Y, Watts EL, Key TJ, Travis RC. (2022). "Adiposity and risk of prostate cancer death: a prospective analysis in UK Biobank and meta-analysis of published studies". BMC Med. 20 (1): 143. doi:10.1186/s12916-022-02336-x. PMID 35509091.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  50. ^ Hao G, Zuo L, Weng X, Fei Q, Zhang Z, Chen L, Wang Z, Jing C. (2022). "Associations of road traffic noise with cardiovascular diseases and mortality: Longitudinal results from UK Biobank and meta-analysis". Environmental Research. 212 (Pt A): 113129. doi:10.1016/j.envres.2022.113129. PMID 35358546.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  51. ^ Sutin DAR, Luchetti M, Aschwanden D, Stephan Y, Sesker AA, Terracciano A. (2023). "Sense of meaning and purpose in life and risk of incident dementia: New data and meta-analysis". Arch Gerontol Geriatr. 105: 104847. doi:10.1016/j.archger.2022.104847. PMC 10015423. PMID 36347158.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  52. ^ UK Biobank Ethics and Governance Framework Archived 2008-12-27 at the Wayback Machine. UK Biobank, October 2007
  53. ^ Ethics and Governance Framework for UK Biobank published for comment. Wellcome Trust, 22 September 2003
  54. ^ Rules for UK Biobank revealed. BBC News, 24 September 2003
  55. ^ Ethics and Governance Council formed to oversee UK Biobank Wellcome Trust, 1 November 2004
  56. ^ "Our Board". UK Biobank. Retrieved 2 December 2020.
  57. ^ a b Sarah Hall: £61m medical experiment begins The Guardian, 22 August 2006
  58. ^ "Lack Of Diversity In Genetic Databases Hampers Research". NPR.org. Retrieved 3 April 2020.
  59. ^ Agrawal, Raag; Prabakaran, Sudhakaran (5 March 2020). "Big data in digital healthcare: lessons learnt and recommendations for general practice". Heredity. 124 (4): 525–534. doi:10.1038/s41437-020-0303-2. ISSN 0018-067X. PMC 7080757. PMID 32139886.
  60. ^ Daily Telegraph 2004
[edit]
Retrieved from "https://en.wikipedia.org/w/index.php?title=UK_Biobank&oldid=1242131575"