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Annu Rev Genomics Hum Genet. 2019 Apr 12. doi: 10.1146/annurev-genom-091416-035517. [Epub ahead of print]

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.

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Department of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA; email: ,
These authors contributed equally to this article.
Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California 94305, USA; email:
Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA; email: ,
Colorado Center for Personalized Medicine, Anschutz Medical Campus, University of Colorado, Aurora, Colorado 80045, USA; email:
Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158, USA; email:
Department of Genetics, Rutgers University, New Brunswick, New Jersey 08554, USA; email:
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; email:


The past decade has seen a technological revolution in human genetics that has empowered population-level investigations into genetic associations with phenotypes. Although these discoveries rely on genetic variation across individuals, association studies have overwhelmingly been performed in populations of European descent. In this review, we describe limitations faced by single-population studies and provide an overview of strategies to improve global representation in existing data sets and future human genomics research via diversity-focused, multiethnic studies. We highlight the successes of individual studies and meta-analysis consortia that have provided unique knowledge. Additionally, we outline the approach taken by the Population Architecture Using Genomics and Epidemiology (PAGE) study to develop best practices for performing genetic epidemiology in multiethnic contexts. Finally, we discuss how limiting investigations to single populations impairs findings in the clinical domain for both rare-variant identification and genetic risk prediction. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 30, 2019. Please see for revised estimates.

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