UK Biobank

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 completed an automated questionnaire and were interviewed about lifestyle, medical history and nutritional habits; basic variables such weight, height, blood pressure etc. were measured; and blood and urine samples were taken. These samples have been 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 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.

Development

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, 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 had been opened when the recruitment target of 500,000 was reached in 2010.

Initial information collected

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

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

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.

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 Prof Sir Michael Rawlins.

Recruitment

Following the initial pilot stage in 2006 2005 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 enrolment was declared complete in August 2010.

Usage

The UK Biobank dataset was opened to applications from researchers in March 2012. 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. By the end of 2015 over 1,000 researchers had registered to use the resource and over 200 research projects were completed or underway.

Extensions

Since the completion of recruitment several new types of data have been added:

Ongoing developments

A number of projects are currently underway to generate additional data:

Future plans

There are several plans, either provisional or underway, for enhancing the resource:

Opinion

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". 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 patented 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 Executive, and the Wellcome Trust medical research charity. The cost of the initial participant recruitment and assessment phase was 62 million GBP.

Related projects

EPIC (European Prospective Investigation into Cancer and Nutrition) is a similar study that was started in 1992 involves over 500,000 participants from ten European countries. It is specifically designed to study the respective roles of diet and genes in the development of cancer.

In 2006, a similar project by the U.S. National Human Genome Research Institute known as "The American project" was proposed.

The China Kadoorie Biobank study collected questionnaire and physical data and blood samples on 510,000 adults between 2004-2008 with the aim of investigating chronic diseases (e.g. heart attack, stroke, diabetes, and cancer). Participants have been linked to mortality registers and nationwide health systems and a sub-group are retested every few years.

In 1996 a private company deCODE genetics Inc. planned to obtain biobank samples, health and genealogical data from the whole population of Iceland - then about 270,000 people. The company hoped to use the data to identify genes associated with diseases and use that information to develop new drugs. deCODE genetics obtained data and DNA samples on 140,000 Icelanders but filed for Chapter 11 bankruptcy in 2009 and as of January 2015 its systems and databanks had been spun off to another company NextCODE Health, owned by WuXi PharmaTech. In 2015, the Chief Executive of deCODE said that with the DNA and family tree they had data collected in Iceland, they could in theory predict which Icelandic women had a high risk of getting breast cancer. However the data had been collected antonymously.

The Estonian Genome Project was started in 2000 with the aim of improving public health in the country. Initially it was hoped to obtain biological samples and health data from 70% of the 1.4 million population of Estonia. The project ran into financial difficulties and, as of December 2013, the project had data from 52,000 adult gene donors and the aim had been adjusted downwards to collect genealogical, genome and health data from 5% of the population.