Scientists Say Lifetime Environment Data Is Key to Personalized Medicine

Researchers are working to make personalized medical care a reality by tracking the lifelong environmental exposures and lifestyle habits of patients, a field known as exposomics. The exposome combines with a person's genetics to shape their risk of common conditions like cancer, heart failure, diabetes and dementia. The term was coined in 2005 by Christopher Wild, a cancer epidemiologist at the International Agency for Research on Cancer in Lyon, France. Experts note that environmental exposures account for 70% to 90% of chronic disease risk. Francis Collins, former director of the US National Institutes of Health, stated that genetics load the gun while the environment pulls the trigger.

Research and Findings

In March, Harvard Medical School researcher Chirag Patel and colleagues published a study matching 619 exposure markers with 305 health characteristics using US health survey data. Combining 20 exposures accounted for 3.5% of the variation in disease outcomes, rivaling the predictive power of genetic variants. For instance, 43% of participants' triglyceride levels were explained by a mix of 20 exposures, while advanced cellular ageing linked strongly to smoking, low physical activity and heavy metal exposure. Researchers use high-throughput mass spectrometry and transcriptomics data to track proteins and chemical markers in blood and urine. High-resolution mass spectrometry can yield up to 100,000 distinct peaks, which machine-learning models now help decode.

Future Plans and Challenges

Kyle Walsh, director of the US National Institute of Environmental Health Sciences, says there is growing enthusiasm to fund a multi-year, multimillion-dollar Human Exposome Project. Walsh suggests the NIH All of Us programme, which has enrolled 883,000 participants and houses extensive health and survey records, is an obvious starting point. Meanwhile, the Exposome-Scan facility in Leiden, the Netherlands, launched in 2024 to create exposome profiles, currently identifying about 700 chemicals, which co-leader Roel Vermeulen estimates is 10 to 20% of significant global chemical exposures. Gary Miller, director of the Center for Innovative Exposomics at Columbia University, predicts scientists will conduct a large study using data from roughly 100,000 people in the next three years.

Context

Precision medicine aims to tailor disease prevention and treatment to the individual characteristics of each patient by looking beyond standard population averages. While genetics have long been a major focus of personalized healthcare, studying the exposome bridges a critical gap by measuring real-world external factors like pollution, diet and lifestyle. This approach relies on advanced data tools to handle massive amounts of biological and environmental information.