Big Data Challenges from an Integrative Exposome/Expotype Perspective

Abstract

Most diseases result from the complex interplay between genetic and environmental factors. The exposome is a new concept that seeks to define biotechnical approaches to systematically measure a large subset of environmental exposures of an individual from conception to end of life and associate them with health and disease status. Biomedical informaticians have paid limited attention so far to developing methods to process and integrate data about the contribution of environmental factors to individual health. There is a need for new digital methods and resources that collect, store, annotate, analyze and present reliable and updated information about environmental factors affecting our health on both population and individual/patient scale. For instance, defining the concept of expotype, analogous to genotype and phenotype, could represent an opportunity to make progress in the characterization of human individual exposome data. This chapter presents eight challenges related to the processing of individual exposome (expotype) big data and how to integrate them with genomic and clinical data for biomedical research and clinical practice.