What is molecular epidemiology?

Molecular epidemiology of chronic diseases is an emerging innovative field of research in which molecular and biochemical concepts and techniques are incorporated into epidemiologic studies. This is made possible by recent rapid technological advances in high-throughput laboratory assays that measure biomarkers in biological samples. Biomarker profiles that can be used in molecular epidemiology can range from just a few targeted markers to a whole metabolome, and may include the measurement of (epi)genetic variation, gene expression, proteins, small molecules, and functional assays.

What can molecular epidemiology bring us?

Epidemiology has been proven valuable to identify associations between exposure and disease, in particular because it enables us to study long-term effects of ‘normal’ variation in exposure in populations. However, traditional epidemiology does so without obtaining information of the biological processes that underlie these associations. Molecular epidemiology has the power to open up this ‘black box’. Molecular epidemiology will not only enhance the measurement of exposure, effect, and susceptibility, it will also give insight in complex biological mechanisms, and generate novel hypotheses about disease mechanisms. This knowledge will lead to the identification of early etiologic, diagnostic, and prognostic markers of disease, it will allow us to better target preventive strategies, and will yield new leads for treatment.

What are the challenges?

In recent years, high-throughput laboratory assays have been used mostly in small-scale experimental studies. Their use in large, observational, epidemiologic studies will pose major methodological challenges to the scientific community. These include for example the efficient design of studies, availability of biobanks, continuing development of cheap and rapid high-throughput methods, new statistical data-analysis techniques that enable adjustment for confounding and can handle multiple interactions, and tools for their biological interpretation. To overcome these challenges, multidisciplinary networks are needed that include experts from fields such as epidemiology, molecular biology, biochemistry, genetics, toxicology, biostatistics, and bioinformatics.
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