Background
Common diseases of major public importance such as cancer, heart disease and mental illnesses generally have complex causes. These causes result from interactions between an individual's genetic background (genotype), lifestyle (behaviour) and their environmental exposures to, for example, toxic chemicals and radiation. An individual's genotype is inherited. As well as affecting their overall susceptibility to getting a particular disease, it will also influence how they respond to different medicines.
In addition, the impacts of lifestyle and genotype may be interdependent – the impact of an environmental chemical, for example, may depend on an individual's genetic make-up.
Research on people provides an opportunity to unravel both the molecular and environmental factors contributing to particular diseases. This can identify the 'risk factors' for conditions, but also reveals the possible biological mechanisms by which disease develops – opening up the possibility of developing new therapeutics based on knowledge of disease processes.
In turn, analysing the complex interactions between genotype, lifestyle and environmental exposure will help to identify the risk profile of an individual getting a particular disease. This has the potential to shift the burden of healthcare from disease diagnosis and treatment to personalised disease prevention strategies. People will be able to access information allowing them to manage their own health more effectively.
Typically, risk factors – a gene, say, or exposure to a particular toxin – will be identified because they are more common in those with a disease than in those without it. Individually, though, each risk factor is likely to have a small effect, and disease will depend on many factors acting together. Identifying these factors therefore requires studies of large numbers of people, as well as access to many different types of data about them.
This calls for access to health, clinical, genetic, lifestyle and environmental exposure data on many hundreds, if not thousands, of individuals – and often for many years at a time. Many large-scale studies have been carried out over the past decades, but recently the availability of human genome sequence data has allowed genetic factors to be included in epidemiological projects. This has led to the growth of 'biobanks'.
To explore the key issues facing biobanks, and to consider how European-wide funding initiatives could be used to encourage their development, collaboration and use to advance healthcare, the Wellcome Trust and the European Commission jointly organised a meeting at the Wellcome Trust Conference Centre at Hinxton, near Cambridge, UK. 'From Biobanks to Biomarkers: Translating the potential of human population genetics research to improve the quality of health of the EU citizen' brought together leading figures from population genomics research, public health, the pharmaceutical industry and biotech sector, research funding, ethics and regulatory authorities. It set out to examine the potential for greater international collaboration, for example through data sharing or common protocols.
The conference was held under the auspices of EUHEALTHGEN, a Specific Support Action jointly funded by the European Commission and the Wellcome Trust. Its main aim was to facilitate the development of a forward-looking strategy for translating the outputs of population genetics research into clinically useful and health-enhancing initiatives.
