Epidemiology informing clinical practice: from bills of mortality to population laboratories

The earliest observations on population patterns of disease and how they might inform medical practice probably occurred during the 17th century, and they continue to the present day, with increasing relevance to nutritional and infectious diseases, and cancer and other chronic diseases. Chronic-disease methods grew out of infectious-disease epidemiology, in which both field and laboratory methods are used. In diseases where intermediate biology was not initially observable (particularly cancer), record-based and interview-based epidemiology revealed some key exposures (e.g. smoking and radiation). With measurable intermediates (e.g. blood lipids), cardiovascular epidemiology also yielded inferences on causal pathways. Important changes that are remaking the field of epidemiology and will ultimately influence all aspects of medical practice include the following: high-throughput genotyping, allowing genetic and gene-environment causes of disease to be identified; high-throughput proteomics, which should allow the development of early-detection methods; new tools for the measurement of exposures; and a molecular basis for disease taxonomy. These new methods will allow a much better understanding of both the etiology and the intermediate stages of disease; however, new methods do not obviate the necessity for good study design, especially the need to be clear on the difference between observation and experiment. The greatest opportunities to inform medical practice come from the application of new methods to large-scale human observational studies, which include genetics, environment, early-detection markers, molecular classification of outcome, and treatment data. Improved molecular classification of disease will allow smaller, focused clinical trials to be undertaken and, ultimately, the tailoring of treatment to the biological profile of patient and disease.