Progress in Characterizing the Human Exposome: a Key Step for Precision Medicine

Yearb Med Inform. 2020 Aug;29(1):115-120. doi: 10.1055/s-0040-1701975. Epub 2020 Apr 17.


Objective: Most diseases result from the complex interplay between genetic and environmental factors. The exposome can be defined as a systematic approach to acquire large data sets corresponding to environmental exposures of an individual along her/ his life. The objective of this contribution is to raise awareness within the health informatics community about the importance of dealing with data related to the contribution of environmental factors to individual health, particularly in the context of precision medicine informatics.

Methods: This article summarizes the main findings after a panel organized by the International Medical Informatics Association - Exposome Informatics Working Group held during the last MEDINFO, in Lyon (France) in August 2019.

Results: The members of our community presented four initiatives (PULSE, Digital exposome, Cloudy with a chance of pain, Wearable clinics), providing a detailed view of current challenges and accomplishments in processing environmental and social data from a health research perspective. Projects illustrate a wide range of research methods, digital data collection technologies, and analytics and visualization tools. This reinforces the idea that this area is now ready for health informaticians to step in and contribute their expertise, leading the application of informatics strategies to understand environmental health problems.

Conclusions: The featured projects illustrate applications that use exposome data for the investigation of the causes of diseases, health care, patient empowerment, and public health. They offer a rich overview of the expanding range of applications that informatics is finding in the field of environmental health, with potential impact in precision medicine.

MeSH terms

  • Environmental Exposure*
  • Exposome*
  • Humans
  • Medical Informatics
  • Precision Medicine*