Academic journal article Environmental Health Perspectives

Biomonitoring in the Era of the Exposome

Academic journal article Environmental Health Perspectives

Biomonitoring in the Era of the Exposome

Article excerpt


More than ten years ago, shortly after the human genome was sequenced, Christopher Wild proposed an environmental complement to the genome in determining risk of disease, termed the exposome. He defined the exposome as the totality of exposures throughout the lifespan (Wild 2005).

Since the exposome was originally defined, research efforts have begun, leading to a revised working definition that may be summarized by the following elements. The exposome includes the cumulative measure of exposures to both chemical and nonchemical agents such as diet, stress, and sociobehavioral factors. It includes a series of quantitative and repeated metrics of exposures--both endogenous and exogenous--that describe, holistically, environmental influences or exposure over a lifetime (from conception to death). The exposome can include traditional measures of exposure (e.g., traditional biomonitoring, environmental monitoring) but also includes untargeted discovery of unknown chemicals of biological importance (Miller and Jones 2014; Rappaport and Smith 2010; Wild 2005, 2012). Exposomic approaches go a step beyond traditional biomonitoring, aiming to capture all exposures that potentially affect health and disease.

As a cancer epidemiologist, Wild understood the importance of the environment to health and that current disease trends cannot be explained by genetics alone (Wild 2005). We are only beginning to understand the complexities of environmental exposures and their impacts on human health, whereas genetic influences on health have been extensively studied. At present, we have limited estimates of the impact of environmental exposures on health, and uncertainty exists even in those (Jones 2016; Rappaport 2016; Rappaport and Smith 2010). Biomonitoring serves as a key tool to define exposure-disease risks given the biological significance of internal exposure measurements. With the continued advancement of methods, biomonitoring strategies will be critical in achieving a comprehensive understanding of exposures that have personal and public health relevance. With full understanding of the complex interactions between genetics and environmental exposures, the mysteries of the etiology, trends, and prevention of many diseases can be solved.

In an effort to advance the framework for developing exposome approaches and characterization, a diverse group of scientists gathered at the National Institute of Environmental Health Sciences (NIEHS) Exposome Workshop in January 2015 to discuss the current state of the science and to provide recommendations to the environmental health sciences community on how to best advance exposome research. The state of the science along with the perspectives and recommendations of our working group, Biomonitoring for the Exposome, are described here.


Traditional Biomonitoring

Exposure is commonly assessed by a spectrum of questionnaire data and ecological, environmental, or biological measurements.

Biological measures of exposure that determine an internalized dose are often preferred because they are usually more relevant to the health outcome studied. Traditional biological measurements, also called targeted analyses, measure a target chemical, metabolite, or reaction product in a biological medium such as urine or blood (see Appendix 1). These traditional biomonitoring measurements have become a key component of exposure assessment in many epidemiologic studies that attempt to link exposures to health outcomes.

Molecular epidemiology studies and regulatory agencies rely primarily on targeted analyses because of their current availability and historical use. Broad surveys such as the National Health and Nutrition Examination Study (NHANES) utilize these methods, allowing for quantification and longitudinal surveillance of known exposures across the U.S. population. NHANES data facilitate comparative identification of abnormal exposure levels in select population subsets. …

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