Alicia Martin

Genetic studies for a wide variety of traits and diseases have grown exponentially over the last decade, providing fine-scale biological insights into disease mechanisms. However, these genetic studies have been vastly Eurocentric in composition. We have shown that a consequence of Eurocentric study biases is a much lower ability to predict genetic predispositions to traits and diseases in non-European populations, forewarning of issues implementing genetics in precision medicine equitably. Our lab’s long-term goal is to ensure that the translation of genetic technologies for common diseases, a major goal of precision medicine initiatives, are equitable across diverse populations.

We investigate how human history shapes global genetic and phenotypic diversity, and the role these forces play in predisposing people to various complex disease risks and evolutionarily important traits. We are especially focused on conducting increasingly diverse studies to reduce potential health disparities induced by vast Eurocentric genetic study biases. We approach these goals using several strategies: 1) developing new statistical genetics methods, 2) developing genomic resources and data analysis in diverse populations, and 3) building research capacity for genomics locally as well as in low- and middle-income countries.

First, we are developing statistical methods to improve the generalizability of genetic risk prediction across globally diverse populations by modeling genetic variation across diverse human populations. Second, we are a highly collaborative lab leading analysis for several large-scale genomics consortia to better understand the relationships between genes and phenotypes for a wide variety of biomedical traits and diseases in globally diverse populations. These collaborations include multi-ancestry global biobank analyses spanning many phenotypes, efforts to develop major genomics resources for diverse populations, and case control initiatives particularly in eastern and southern African populations to study the genetic basis of severe mental illness. Third, we are dedicated to building strong research collaborations and statistical genetics research capacity both locally and in low- and middle-income countries. We contribute to the Global Initiative for Neuropsychiatric Genetics Education in Research (GINGER) program, a multi-year immersive training program for research fellows in eastern and southern Africa.

Our interests also expand beyond Eurocentric study biases in genetics. Specifically, we are also developing integrative epidemiological models that include both genetic and environmental risk factors to better which and how these contribute to health disparities among populations. Genetic analysis provides powerful tools for causal inference, complementing environmental studies and risk factors that disproportionately contribute to these disparities. We are a highly collaborative lab based in the Analytic & Translational Genetics Unit in Massachusetts General Hospital and the Stanley Center for Psychiatric Research at the Broad Institute. We work with researchers worldwide to advance these goals.