
The emerging field of ‘exposomics’ combines large environmental datasets and genetic data to reveal the causes of chronic disease.
In the 1990s, a quaint town called Hinkley in the Mojave Desert saw a sudden spike in cancer and kidney disease. Thanks to Erin Brockovich, the health troubles were eventually linked to a dangerous chemical in nearby wastewater ponds that was contaminating the town’s drinking water.
Two decades later, lead-contaminated drinking water in Flint, Michigan exposed tens of thousands of children to dangerous levels of the mineral, putting them at risk of long-term cognitive affects, such as developmental problems or increased chances of Alzheimer’s disease.
Meanwhile, breathing in air pollution, from industrial fumes to wildfires, amps up inflammation in the lungs, eventually triggering chronic disease and potentially cancer. Eating excessive red meat has been linked to higher rates of cancer, and social stressors affect metabolism, heart health, and cognition—all of which contribute to long-term physical health.
Studies have long tried to match each environmental factor to well-being. Now, a group of scientists is arguing we need a more comprehensive map. Dubbed the “exposome,” researchers are using large-scale screening tools to see how combined exposure to chemicals in water, different approaches to nutrition, and levels of stress impact chronic disease.
It’s a herculean goal. Linking a multitude of environmental factors to health is even trickier than decoding the genome. But an interdisciplinary team of biologists, epidemiologists, and toxicologists taking part in the Banbury Exposomics Consortium plans to show how what we eat, drink, and breathe impacts our health. The scientists recently laid out a roadmap in Science.
“We’re now building the first systematic framework to measure how all exposures—from chemical to social—interact with biology across the lifespan,” Gary Miller at Columbia University, who leads the consortium, said in a press release.
From Genes to Bodies
The Human Genome Project yielded the first full map of our DNA, helping scientists link genetics to health and disease. The genomic dataset has enabled gene therapies and gene editors that insert, delete, or swap DNA letters. Thanks to these advances, we’re beginning to treat painful and sometimes deadly genetic disorders with a single shot. Other trials tackling cholesterol to protect against heart disease are also in the works. And the tools have bolstered research by generating animal models of different diseases or screening potential medications.
But when it comes to health, genetics are only part of the picture. We don’t live in a bubble.
Scientists have linked what we eat, drink, and breathe to our health. They’ve found microplastics, for example, in multiple human tissues—including the brain—and have outlined their health impacts. Some studies have linked long-term air pollution exposure to asthma and lung cancer, while others have found pesticides, heavy metals, and various industrial chemicals in the groundwater or aging pipes change the body at the molecular level.
Rather than investigating environmental factors one by one, an alternative approach is to stitch them together into one map. Like a genome, the exposome captures a broad array of environmental factors and shows how they collectively influence health and disease.
“Only a fraction of chronic diseases can be primarily attributed to genetic factors,” wrote the team. The “exposome will help achieve a more thorough understanding of a given health condition.”
Exposomics doesn’t just track rates of disease. Rather, it follows people for long periods of time and captures how multiple environmental factors influence a range of health markers. The field also aims to tease out how specific factors could affect physical or mental health at any point.
“Humans are exposed to multiple dynamic factors throughout their lives, yet research methods and regulatory agencies have not kept pace with this complexity and continue to be overly reliant on a ‘one exposure at a time’ mindset,” wrote the team.
Building the Exposome
Standardization is the consortium’s first priority. Unlike other large-scale projects, such as mapping the brain or metagenomes, exposome projects are harder to evaluate.
Specific measurements of the environment can be integrated into existing databases. For example, mapping environmental factors to genes, proteins, and metabolic molecules can show how the body adapts to its changing environment. Observing changes related to chemicals, nutrients, molecular signals, or epigenetic changes can bring more insight.
The field has already had several early successes.
One study of workers exposed to trichloroethylene—a colorless, odorless chemical often used to degrease metal that increases cancer risk in factory workers—identified a link to molecules in the blood. Another connected pesticide exposure to a bile duct disorder that affects digestion. A third combined pollution data gathered by satellite with residential information to link exposure to signs of Alzheimer’s disease. Yet another study screened thousands of proteins to pinpoint one that’s linked to heart attack risk and is produced after eating red meat or dairy.
These studies don’t sound related. But they all used cutting-edge big data technologies to track multiple datapoints in real time over a long period.
To be clear, exposomics is a very young field. The consortium is still ironing out standardized protocols, data collection, and methods of analysis they can share with the community. They’re also working on custom AI tools to analyze vast, complex datasets.
For a first stretch goal, the team hopes to use exposomics to study medications. Our bodies digest drugs differently depending on diet and other environmental factors. Adding these to drug metabolism data could help better measure how well medications work.
Future studies could link exposure in the workplace to cellular problems or genetics and reveal previously unidentified dangerous chemicals at a larger scale. Cancer patients may also benefit: Tumor progression is highly influenced by the environment, and exposomics data could help doctors monitor tumor growth and its response to therapy.
By blending environmental factors and molecular insight, “exposomics allows researchers to reframe studies from a reactive approach to a predictive and preemptive one,” wrote the team.
Several exposomics hubs in the US and EU are collaborating on infrastructure to share data and projects. The consortium is gathering this May for the inaugural Exposome Moonshot Forum in Washington, DC to further lay out a vision for the field and find practical use cases.
“Life exists at the interface of genetically encoded processes and environmentally driven realities. So too should the biomedical enterprise that studies it,” wrote the team.
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* This article was originally published at Singularity Hub
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