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IT SEEMS LIKELY that risk prediction scores of the future will be modeled as much on the data emerging from huge biobanks as from the classical findings of randomised trials and meta-analysis. With the genetic, biomarker and lifestyle information of many hundreds of thousands of people stored and analysed for their patterns in disease and health, biobanks are rapidly becoming the repository of what we need to know about the aetiology of disease.
The numbers are huge. Two of the biobanks discussed at a Symposium this morning - EPIC-Heart and the UK Biobank - have data on more than 500,000 participants, and a third, the German National Cohort, has plans for health, lifestyle and genetic information on 200,000. The latter, says Heidelberg radiologist Christopher Schlett, also has plans for banking 30,000 whole-body MR images which include standard and novel cardiac MR sequences (such as unenhanced and MR angiography) and will eventually enable the identification of novel imaging biomarkers of risk. ‘We’ll have images at baseline and aim for a later stage,’ says Schlett, ‘so we can observe how cardiovascular disease changes over time.’ The MRI study will thus allow a cross-sectional assessment of the prevalence of subclinical disease states in the general population.
There is also a multimodal imaging project in the UK Biobank study, which has now collected (and continues to collect) substantial phenotypic and genotypic information on more than 500,000 subjects through interviews, questionnaires, physical measures and sample collection.
UK Biobank, like the other projects outlined in today’s Symposium, aims to improve the prevention, diagnosis and treatment of a wide range of serious illnesses, including cardiovascular disease. ‘Over the next 20 years,’ says its Principal Investigator Professor Sir Rory Collins from the University of Oxford, ‘we expect some 45-50,000 incident cases of myocardial infarction and coronary deaths to accrue within the resource. Enhancements to the study pertinent to cardiology researchers include the biochemical assays and genotyping of all 500,000 participants and the planned multimodal scanning of 100,000 participants.’
The imaging project, for example, would allow assessment of the relevance of fat distribution in the body to cardiovascular risk and work is now under way to streamline the automated analysis of these images. ‘This would enable us to provide precise measurements of visceral and subcutaneous fat to researchers on a large number of individuals,’ explains Collins.
A feasibility study has also started to assess the prevalence and predictors of atrial fibrillation in the UK Biobank cohort. ‘As atrial fibrillation may be missed by a single ECG because of its intermittent nature, we are piloting the use of a non-invasive ECG “patch” continuous monitor that can be worn for about two weeks,’ Collins explains.
The imaging project is just one of several large-scale ‘enhancements’ in the UK Biobank, which will also analyse genetic and biochemical data on the full cohort and record physical activity over the course of a week for 100,000 participants. So far, over 70,000 individuals have worn the Biobank’s activity monitor. Genetic analysis has involved measuring over 800,000 markers throughout the genome, and about 70 million markers have been imputed for each participant. The first round of genetic data from 150,000 participants has now been made available to researchers, with data on the full 500,000 to be released in 2016.
There is also a pan-European biobank project under way, which too will be featured in tomorrow’s Symposium. The EPIC-Heart project, an initiative of the European Prospective Investigation into Cancer and Nutrition (EPIC), is also studying the interplay of genetic, biochemical and lifestyle factors on the risk of coronary heart disease. Since the project began in the 1990s, more than 15,000 of the 520,000 subjects have developed heart disease, which, says scientific co-ordinator Adam Butterworth from the University of Cambridge, provides a suitably large enough group of cases to allow reliable investigation of the joint effects of genes, biomarkers and lifestyles on risk. The EPIC-Heart project involves 23 EPIC centres in ten European countries and has banked blood samples from most subjects at baseline.
Butterworth noted that the EPIC project data - like that of other large biobanks - is open to collaboration from outside groups, ‘at your doorstep’ as the Symposium title suggests. And speaking to Congress News, he agreed with his fellow-presenters that the detailed multi-domain data now available to these researchers will indeed allow a better understanding of cardiovascular disease and its risk factors, and as a result the basis for better treatments for future generations.European biobanks: large-scale epidemiological research at your doorstep, 30 Aug 08:30-10:00 St James Park - The Hub
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