PERSPECTIVE article
Front. Genet.
Sec. Applied Genetic Epidemiology
This article is part of the Research TopicUncovering Genetic Variations in Immigrant Communities for Inclusive GWAS FindingsView all articles
Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors
Provisionally accepted
- 1The Pennsylvania State University (PSU), University Park, United States
- 2University of North Carolina at Chapel Hill, Chapel Hill, United States
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Genome-wide association studies (GWAS) have made remarkable progress to date in deciphering the genetic foundations of complex traits, yet persistent gaps remain in how sample heterogeneity is measured and reported. Current practices typically emphasize diversity by broad ancestry categories or stratification by country of recruitment, but these dimensions alone fail to capture the immigration-related factors that contribute to the genetic or environmental origins of heterogeneity. We argue that incorporating variables, such as country of origin, in descriptions and analyses provides essential context for interpreting genetic associations, particularly in increasingly multi-population and trans-national GWAS samples. We highlight how neglected these variables are in the literature using the GWAS Catalog. We provide suggestions for reporting on these data in future studies. By advocating for a more comprehensive view of diversity in GWAS, we aim to address the under-representation of immigrants in GWAS and thereby strengthen the validity and interpretability of future genomic studies.
Keywords: Country of birth, country of recruitment, Diversity & Inclusion, environment, Gene-environment (G-E) interaction, genome-wide association studies, immigration
Received: 15 Oct 2025; Accepted: 09 Dec 2025.
Copyright: © 2025 Tu and Fernandez-Rhodes. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lindsay Fernandez-Rhodes
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