Genomics Meets Exposomics: Historic Meeting Ushers in a New Age of Human Health Discovery

This past week, 35 investigators from the fields of genomics and exposomics convened at the Mendel Museum, on the site where in the 1800s, Gregor Mendel conducted experiments in present-day Brno, Czech Republic, that laid the foundation for the field of genomics. Researchers from around the world worked together to develop a strategy to identify the causes of all human disease.

Genomics can explain about 20 percent of what causes most complex diseases. The remaining 80 percent is due to a combination of exposures from our environment, which are captured by exposomics, and the interactions between genes and the environment.

The landmark meeting was co-hosted by European Infrastructure EIRENE (Environmental Exposure Assessment Research Infrastructure) and NEXUS (Network for Exposomics in the United States. Gary Miller, vice dean for research strategy and innovation and Adrienne Block Professor of Environmental Health Sciences at Columbia University Mailman School of Public Health, leads NEXUS’s National Institutes of Health-funded Coordinating Center together with Roma Habre of the University of Southern California and Chirag Patel of Harvard. A global leader in the field of exposomics, Miller is also the director of the Center for Innovative Exposomics at Columbia and directs IndiPHARM, a multicenter research initiative working to revolutionize pharmacology by developing new exposomics-based tools to assess drug efficacy and tailor optimal drug treatment. 

Attendees discussed how to incorporate exposomics into large studies with over a million people, including biobanks which preserve blood and other samples from participants. There was discussion about the use of mass spectrometry to measure thousands of molecules in blood samples, how sensors and wearables can track people’s exposures, the ethical and privacy concerns that result from this type of research, artificial intelligence to predict future disease, and how to get the findings into the clinic as fast as possible.

Collaboration Between Genomics and Exposomics

EIRENE and NEXUS are working in concert to develop their respective scientific infrastructures in Europe and the U.S., with collaborations underway to facilitate the adoption of exposomics worldwide. Exposomics aims to study the exposome–the combination of physical, chemical, biological, and social factors that impact our health. The field has matured to provide the biochemical, molecular, and geospatial methods to capture these complex factors and their impact on our bodies. 

Miller emphasized that the partnership with EIRENE has been critical to the recent progress in exposomics. “The Human Genome Project made it possible to study all of the genetic drivers of disease. Exposomics is ready to do the same for the environmental drivers of disease. If we can merge the discoveries from genomics and exposomics, we will have the knowledge needed to develop strategies for the prevention and treatment of all of the diseases that afflict us. This meeting was historic in that it is the first time leaders of the genomics and exposomics communities have come together to figure out how to combine forces,” he said.

Chirag Patel, a Harvard bioinformaticist and one of the principal investigators of NEXUS, added, “Genome-wide association studies revolutionized how we studied genes and disease. Exposome-wide association studies are now poised to revolutionize how we study the environment and disease. If we can interdigitate genomics and exposomics, we will get the best of both worlds, and I am confident that the resulting synergy will change science.”

Interim Executive Director of EMBL, Ewan Birney, encouraged the exposomics field to develop data standards analogous to those developed for genomics: “With robust data structures we can merge the complex genomic and exposomic datasets collected from large population cohorts in a biologically meaningful manner. New artificial intelligence workflow will permit us to distill these massive datasets into models that improve human health.”

Jana Klánová of Masaryk University and leader of the European Infrastructure Project EIRENE highlighted that the collaborations nurtured over the past decade between the European and U.S. teams have been instrumental in advancing the field of exposomics: “EIRENE already has over 20 countries as members, but we can do better. We need to have the entire world carrying the banner of exposomics.”

Rima Habre, an environmental health scientist at the University of Southern California and one of the principal investigators of NEXUS, noted, “By linking people’s location data with air pollution, temperature, and social factors, we can catalog thousands of exposures. Combined with blood sample analysis, this reveals not just what causes health problems, but how to fix them.”

The Mendel Museum Meeting in Context

This meeting comes on the heels of major exposome events such as the Exposome Moonshot Forum in Washington, D.C., and the Santiago Exposome Meeting in Chile. In the next year, future meetings, such as the World Congress of Science Journalists in Pretoria, South Africa, the American Association for the Advancement of Sciences in Phoenix, Arizona, USA, the Global Exposome Summit in Barcelona, Spain, the Bordeaux Exposome Meeting in France, and the International Society for Exposure Science in Vancouver, Canada, will prominently feature exposomics.

The organizing committee of the Mendel Museum meeting included Robert Barouki of Inserm, Klánová, Miller, and Patel. European investigators from Erasmus MC, EMBL, Oxford, Bristol, Oulu, Helsinki, ThermoFisher, Strathclyde, Inserm, Aristotle University, University College London, and Utrecht University, were joined by U.S.-based investigators from Harvard, Columbia, Yale, Georgia Tech, USC, the University of Pennsylvania, University of North Carolina, and Johns Hopkins, as well as Amazon Web Services.

Looking Ahead

The meeting’s attendees posited that by combining the information gleaned from genomics and exposomics, we could greatly improve our understanding of the drivers of disease onset, progression, and response to therapy.

Kári Stefánsson, the founder of deCODE Genetics, summed the meeting up with the sentiment, saying, “Genomics and exposomics cannot live without each other.”