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Genetics and context for precision health in Greater Boston
Satoshi Koyama1,2,3,4, Ying Wang1,3,5,6, Kaavya Paruchuri1,2,3,4
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nature Communications
|November 26, 2025
Summary
The Mass General Brigham Biobank reveals how genetic diversity and environmental factors in Boston shape health outcomes. This large-scale study highlights the interplay of genetics, immigration, and geography on disease.
Area of Science:
- Genomics
- Population Genetics
- Environmental Health
Background:
- Mass General Brigham (MGBB) is a large integrated healthcare system serving 1.5 million patients.
- The Mass General Brigham Biobank (MGBB) includes 142,238 participants to study gene-environment interactions.
- Understanding these interactions is crucial for clinical practice and public health.
Purpose of the Study:
- To describe the genetic and phenotypic diversity within the MGBB.
- To analyze the interaction between genetic profiles, environmental context, and disease.
- To investigate the influence of demographic histories, socioeconomic factors, and geospatial elements on health outcomes.
Main Methods:
- Population genetics analyses to capture demographic histories.
- Geospatial assessment to understand environmental influences.
- Phenome-wide association studies (PheWAS) of common and rare genetic variants, linked with socioeconomic factors.
Main Results:
- Genetic variation reflects the demographic history of the Greater Boston area.
- Identified communities with shared genetic and environmental factors.
- Prioritized disease associations by integrating genetic data, socioeconomic status, and geospatial information.
Conclusions:
- Large-scale biobank analyses are powerful tools for understanding health.
- Genetics, immigration, and structural geospatial factors dynamically interplay to influence health outcomes.
- Findings provide insights into disease etiology in a historically significant region of European colonization.
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