UK Biobank
Encyclopedia
UK Biobank is a large long-term biobank
study in the United Kingdom (UK) which is investigating the respective contributions of gene
tic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease. It began in 2007.
Based in Stockport
, Greater Manchester
, it is incorporated as a limited company
and registered charity in England and Wales
, and registered as a charity
in Scotland
.
Initial enrollment took place over four years from 2006, and the volunteers will be followed for at least 25 years thereafter.
Prospective participants were invited to visit an assessment centre,
at which they complete an automated questionnaire and are interviewed about lifestyle, medical history and nutritional habits; basic variables such weight, height, blood pressure etc. are measured; and blood and urine
samples are taken. These samples were be preserved so that it is possible to later extract DNA
and measure other biologically important substances. During the whole duration of the study it is 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
.
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.").
From 2011, researchers can apply to use the database (though they will not be 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.
. 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
, Manchester throughout Spring 2006 where 3,800 individuals were assessed. On August 22, 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., however recruitment proved more efficient than hoped and only
22 centres were actually required.
Once the visit-based assessment method was proven, the range of investigations was extended to include:
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 enrolment was declared complete in August 2010..
additional measures itself to create novel datasets to enhance the value of the resource.
During 2011-12 participants who supplied an email address are being 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.
It is expected that the initial UK Biobank dataset will become available to researchers towards the end of 2011
panel concluded, the "UK Biobank has the potential, in ways that are not currently available elsewhere, to support a wide range of research". Colin Blakemore
, chief executive of the MRC
, predicted it "will provide scientists with extraordinary information" and "grow into a unique resource for future generations."
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", and expressed concern that the genetic information from patients could be patent
ed for commercial purposes. Biobank's chief executive described such a risk as "extremely low, if it exists at all."
The method of recruiting participants was also initially controversial. Participants were sent letters of invitation based on names, addresses, and dates of birth provided by the NHS to the UK Biobank organisers. Although compliant with UK data protection law, some people objected to the NHS passing on such data to third parties without explicit consent, and also had concerns about the data security in such a large project.
, and the Wellcome Trust
medical research charity. The amount needed for the initial participant recruitment and assessment phase is 61 million GBP.
(European Prospective Investigation into Cancer and Nutrition) is a similar study that involves 370,000 participants from nine European countries; it is specifically designed to study the respective roles of diet and genes in the development of cancer.
, a similar project by the U.S. National Human Genome Research Institute
is in the planning stages.
Biobank
A biobank is a cryogenic storage facility used to archive biological samples for use in research and experiments. Ranging in size from individual refrigerators to warehouses, biobanks are maintained by institutions such as hospitals, universities, nonprofit organizations, and pharmaceutical...
study in the United Kingdom (UK) which is investigating the respective contributions of gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
tic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease. It began in 2007.
Based in Stockport
Stockport
Stockport is a town in Greater Manchester, England. It lies on elevated ground southeast of Manchester city centre, at the point where the rivers Goyt and Tame join and create the River Mersey. Stockport is the largest settlement in the metropolitan borough of the same name...
, Greater Manchester
Greater Manchester
Greater Manchester is a metropolitan county in North West England, with a population of 2.6 million. It encompasses one of the largest metropolitan areas in the United Kingdom and comprises ten metropolitan boroughs: Bolton, Bury, Oldham, Rochdale, Stockport, Tameside, Trafford, Wigan, and the...
, it is incorporated as a limited company
Limited company
A limited company is a company in which the liability of the members or subscribers of the company is limited to what they have invested or guaranteed to the company. Limited companies may be limited by shares or by guarantee. And the former of these, a limited company limited by shares, may be...
and registered charity in England and Wales
England and Wales
England and Wales is a jurisdiction within the United Kingdom. It consists of England and Wales, two of the four countries of the United Kingdom...
, and registered as a charity
Office of the Scottish Charity Regulator
The Office of the Scottish Charity Regulator is a non-ministerial department of the Scottish Government, with responsibility for the regulation of charities in Scotland...
in Scotland
Scotland
Scotland is a country that is part of the United Kingdom. Occupying the northern third of the island of Great Britain, it shares a border with England to the south and is bounded by the North Sea to the east, the Atlantic Ocean to the north and west, and the North Channel and Irish Sea to the...
.
Design
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 25 years thereafter.
Prospective participants were invited to visit an assessment centre,
at which they complete an automated questionnaire and are interviewed about lifestyle, medical history and nutritional habits; basic variables such weight, height, blood pressure etc. are measured; and blood and urine
Urine
Urine is a typically sterile liquid by-product of the body that is secreted by the kidneys through a process called urination and excreted through the urethra. Cellular metabolism generates numerous by-products, many rich in nitrogen, that require elimination from the bloodstream...
samples are taken. These samples were be preserved so that it is possible to later extract DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
and measure other biologically important substances. During the whole duration of the study it is 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
National Health Service
The National Health Service is the shared name of three of the four publicly funded healthcare systems in the United Kingdom. They provide a comprehensive range of health services, the vast majority of which are free at the point of use to residents of the United Kingdom...
.
During the initial physical examination, basic feedback was provided to the participant regarding their weight, height, BMI, blood pressure
Blood pressure
Blood pressure is the pressure exerted by circulating blood upon the walls of blood vessels, and is one of the principal vital signs. When used without further specification, "blood pressure" usually refers to the arterial pressure of the systemic circulation. During each heartbeat, BP varies...
, lung vital capacity
Vital capacity
Vital capacity is the maximum amount of air a person can expel from the lungs after a maximum inspiration. It is equal to the inspiratory reserve volume plus the tidal volume plus the expiratory reserve volume....
, bone density
Bone density
Bone density is a medical term normally referring to the amount of mineral matter per square centimeter of bones. Bone density is used in clinical medicine as an indirect indicator of osteoporosis and fracture risk.This medical bone density is not the true physical "density" of the bone, which...
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.").
From 2011, researchers can apply to use the database (though they will not be 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
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
, such as cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
, heart disease
Heart disease
Heart disease, cardiac disease or cardiopathy is an umbrella term for a variety of diseases affecting the heart. , it is the leading cause of death in the United States, England, Canada and Wales, accounting for 25.4% of the total deaths in the United States.-Types:-Coronary heart disease:Coronary...
, diabetes or Alzheimer's disease
Alzheimer's disease
Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
, with a sample of those that did not, in an attempt to measure the
benefits, risk contribution and interaction of specific genes
Gênes
Gênes is the name of a département of the First French Empire in present Italy, named after the city of Genoa. It was formed in 1805, when Napoleon Bonaparte occupied the Republic of Genoa. Its capital was Genoa, and it was divided in the arrondissements of Genoa, Bobbio, Novi Ligure, Tortona and...
, lifestyles, and medications.
Development
An incremental approach was adopted to developing the study procedures and technology, using systems designed and developed by the Clinical Trial Service UnitClinical Trial Service Unit
The Clinical Trial Services Unit is a medical research institute within Oxford University in the United Kingdom.It primarily conducts large scale clinical trials and epidemiological studies of chronic diseases, especially cancer and vascular conditions.It is located in the Richard Doll Building ...
. 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
Altrincham
Altrincham is a market town within the Metropolitan Borough of Trafford, in Greater Manchester, England. It lies on flat ground south of the River Mersey about southwest of Manchester city centre, south-southwest of Sale and east of Warrington...
, Manchester throughout Spring 2006 where 3,800 individuals were assessed. On August 22, 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., however recruitment proved more efficient than hoped and only
22 centres were actually required.
Initial Information Collected
The study was initially launched with a visit consisting of the following:- A paperless consentConsentConsent refers to the provision of approval or agreement, particularly and especially after thoughtful consideration.- Types of consent :*Implied consent is a controversial form of consent which is not expressly granted by a person, but rather inferred from a person's actions and the facts and...
process - A touchscreenTouchscreenA touchscreen is an electronic visual display that can detect the presence and location of a touch within the display area. The term generally refers to touching the display of the device with a finger or hand. Touchscreens can also sense other passive objects, such as a stylus...
questionnaire on lifestyle and general health - Touchscreen tests of memoryMemoryIn psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
- An interview with a nurse on detailed medical history
- Measurement of blood pressureBlood pressureBlood pressure is the pressure exerted by circulating blood upon the walls of blood vessels, and is one of the principal vital signs. When used without further specification, "blood pressure" usually refers to the arterial pressure of the systemic circulation. During each heartbeat, BP varies...
- Measurement of sitting and standing heights
- Measurement of weight
- Body composition measurement using impedance
- Measurement of grip-strength
- Breath spirometrySpirometrySpirometry is the most common of the pulmonary function tests , measuring lung function, specifically the measurement of the amount and/or speed of air that can be inhaled and exhaled...
- UltrasoundUltrasoundUltrasound is cyclic sound pressure with a frequency greater than the upper limit of human hearing. Ultrasound is thus not separated from "normal" sound based on differences in physical properties, only the fact that humans cannot hear it. Although this limit varies from person to person, it is...
bone densitometry of ankle - Collection of bloodBloodBlood is a specialized bodily fluid in animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells....
and urineUrineUrine is a typically sterile liquid by-product of the body that is secreted by the kidneys through a process called urination and excreted through the urethra. Cellular metabolism generates numerous by-products, many rich in nitrogen, that require elimination from the bloodstream...
samples
Once the visit-based assessment method was proven, the range of investigations was extended to include:
- Test of hearing discrimination
- Measurement of arterial pulse-wave velocity
- Measurement of visual acuityVisual acuityVisual acuity is acuteness or clearness of vision, which is dependent on the sharpness of the retinal focus within the eye and the sensitivity of the interpretative faculty of the brain....
- Measurement of intra-ocular pressure
- Lens refractometry
- Fundus image of retinaRetinaThe vertebrate retina is a light-sensitive tissue lining the inner surface of the eye. The optics of the eye create an image of the visual world on the retina, which serves much the same function as the film in a camera. Light striking the retina initiates a cascade of chemical and electrical...
- Optical coherence tomographyOptical coherence tomographyOptical coherence tomography is an optical signal acquisition and processing method. It captures micrometer-resolution, three-dimensional images from within optical scattering media . Optical coherence tomography is an interferometric technique, typically employing near-infrared light...
scan of retina - ElectrocardiogramElectrocardiogramElectrocardiography is a transthoracic interpretation of the electrical activity of the heart over a period of time, as detected by electrodes attached to the outer surface of the skin and recorded by a device external to the body...
during exercise - Collection of salivaSalivaSaliva , referred to in various contexts as spit, spittle, drivel, drool, or slobber, is the watery substance produced in the mouths of humans and most other animals. Saliva is a component of oral fluid. In mammals, saliva is produced in and secreted from the three pairs of major salivary glands,...
sample - Dietary assessment
Ethics and governance
The UK Biobank project operates within the terms of an Ethics and Governance Framework. 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. The Council also advises more generally on the interests of research participants and the general public in relation to the project.Recruitment Progress
Following the initial pilot stage in 2006, 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 enrolment was declared complete in August 2010..
Further Developments
In addition to gathering additional information from NHS sources, UK Biobank aims to conductadditional measures itself to create novel datasets to enhance the value of the resource.
During 2011-12 participants who supplied an email address are being 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.
It is expected that the initial UK Biobank dataset will become available to researchers towards the end of 2011
Opinion
The Biobank project has been generally praised for its ambitious scope and unique potential. A scientific reviewPeer review
Peer review is a process of self-regulation by a profession or a process of evaluation involving qualified individuals within the relevant field. Peer review methods are employed to maintain standards, improve performance and provide credibility...
panel concluded, the "UK Biobank has the potential, in ways that are not currently available elsewhere, to support a wide range of research". Colin Blakemore
Colin Blakemore
Professor Colin Blakemore, Ph.D., FRS, FMedSci, HonFSB, HonFRCP, is a British neurobiologist who is Professor of Neuroscience at the University of Oxford and University of Warwick specialising in vision and the development of the brain. He was formerly Chief Executive of the British Medical...
, chief executive of the MRC
Medical Research Council (UK)
The Medical Research Council is a publicly-funded agency responsible for co-ordinating and funding medical research in the United Kingdom. It is one of seven Research Councils in the UK and is answerable to, although politically independent from, the Department for Business, Innovation and Skills...
, predicted it "will provide scientists with extraordinary information" and "grow into a unique resource for future generations."
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", and expressed concern that the genetic information from patients could be patent
Patent
A patent is a form of intellectual property. It consists of a set of exclusive rights granted by a sovereign state to an inventor or their assignee for a limited period of time in exchange for the public disclosure of an invention....
ed for commercial purposes. Biobank's chief executive described such a risk as "extremely low, if it exists at all."
The method of recruiting participants was also initially controversial. Participants were sent letters of invitation based on names, addresses, and dates of birth provided by the NHS to the UK Biobank organisers. Although compliant with UK data protection law, some people objected to the NHS passing on such data to third parties without explicit consent, and also had concerns about the data security in such a large project.
Funding
The UK Biobank is funded by the UK Department of Health, the Medical Research Council, the Scottish ExecutiveScottish Executive
The Scottish Government is the executive arm of the devolved government of Scotland. It was established in 1999 as the Scottish Executive, from the extant Scottish Office, and the term Scottish Executive remains its legal name under the Scotland Act 1998...
, and the Wellcome Trust
Wellcome Trust
The Wellcome Trust was established in 1936 as an independent charity funding research to improve human and animal health. With an endowment of around £13.9 billion, it is the United Kingdom's largest non-governmental source of funds for biomedical research...
medical research charity. The amount needed for the initial participant recruitment and assessment phase is 61 million GBP.
Related projects
EPICEuropean Prospective Investigation into Cancer and Nutrition
The European Prospective Investigation into Cancer and Nutrition study is a Europe-wide prospective cohort study of the relationships between diet and cancer, as well as other chronic diseases, such as cardiovascular disease...
(European Prospective Investigation into Cancer and Nutrition) is a similar study that involves 370,000 participants from nine European countries; it is specifically designed to study the respective roles of diet and genes in the development of cancer.
, a similar project by the U.S. National Human Genome Research Institute
National Human Genome Research Institute
The National Human Genome Research Institute is a division of the National Institutes of Health, located in Bethesda, Maryland.NHGRI began as the National Center for Human Genome Research , which was established in 1989 to carry out the role of the NIH in the International Human Genome Project...
is in the planning stages.
External links
- UK Biobank home page
- UK Biobank Ethics and Governance Council home page
- Will Biobank Pay Off? - 2003 BBCBBCThe British Broadcasting Corporation is a British public service broadcaster. Its headquarters is at Broadcasting House in the City of Westminster, London. It is the largest broadcaster in the world, with about 23,000 staff...
article critical of UK Biobank