It is widely accepted that a relatively small proportion of chronic disease can be explained by genetic factors alone. Although information about environmental exposure is important to comprehensively evaluate chronic diseases, this information is not sufficiently or accurately assessed by comparison with genomic factors. To emphasize the importance of more complete evaluation of environmental exposure, the concept of the exposome, which indicates the entirety of environmental exposure from conception onwards, was introduced in 2005. Since the 2010s several epidemiological studies, such as the Human Early-Life Exposome project, have applied the exposome concept. The exposome consists of three overlapping domains: the general external, the specific external, and the internal environments. General external factors include the broader socioeconomic environment, and specific external factors include lifestyles, occupations, and pollutant exposures. Internal factors include biological effects and responses. Because the exposome covers exposures from conception to death, the birth cohort is an important part of the exposome study. Although there is not yet an established consensus in selecting what, when, and where to measure concerning the exposome, the use of omics analyses, especially analysis of the metabolome, should be considered in order to implement the exposome concept in the birth cohort. The exposome needs to be measured repeatedly in certain important phases of life, such as during pregnancy and infancy. To perform exposome-informed epidemiological studies, untargeted data-driven approaches in conjunction with dimension reduction techniques need to be developed and refined. The exposome concept has the potential to make a breakthrough in overcoming some of the limitations of conventional epidemiology. Concerted national and international efforts are required for future exposome studies.
Keywords: Birth cohort; Exposome; Metabolome; Omics analysis; Untargeted data-driven approach.