The first joint symposium between the MRC Population Health Unit and the Big Data Institute explored the opportunities for effective epidemiological research provided by large-scale studies, so-called “Big Data”. The issues of ethics, data sharing, privacy, and public engagement were discussed and the importance of streamlined design and proportionate, efficient and coordinated research regulation were highlighted.
Dr Yiping Chen of the Nuffield Department of Population Health at the University of Oxford, outlined the China Kadoorie Biobank’s (CKB) approach to clinical outcome adjudication and phenotyping. CKB is gathering data on hospital episodes and deaths of 512 thousand Chinese participants using information from death and disease registries and national health insurance data. Four main disease areas are currently undergoing adjudication (stroke, ischaemic heart disease, cancer and chronic kidney disease), with the main objectives being to verify the accuracy of reported diagnoses, phenotype the main sub-types of disease and establish the reliability and validity of disease reports from different sources. Dr Chen identified the key components for the success of such follow-up as data completeness, validity, timeliness of collection and comparability. She also emphasised the value of using a staged approach to addressing questions, bespoke centralised IT systems and the generalizability and scalability of methodology.
Professor Michael Gaziano of Harvard University Medical School described the challenges and opportunities of the Million Veterans Study. This national research programme investigates the impact of genetics on health to inform future health care delivery. The study is collecting biological samples and health information from one million Veteran volunteers, to build one of the world's largest secure medical databases. Anticipated studies include investigations of gene-environment (lifestyle) interactions, genome-wide associations, pharmacogenomics, and nutrigenomics, and will encompass both common diseases, and military-related illnesses, such as post-traumatic stress disorder.
Professor Joshua Denny of the Vanderbilt University School of Medicine discussed large-scale approaches to phenotyping health outcomes for research, using examples from the national eMERGE Network Precision Medicine Initiative. The eMERGE network uses electronic medical record systems and multiple DNA biorepositories for large-scale high throughput genetic research and has fostered novel bioinformatics approaches, and developed numerous electronic phenotype algorithms based on its work to date. It is organised and funded by the National Human Genome Research Institute (NHGRI).