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

Annu Rev Genomics Hum Genet. 2019 Aug 31:20:181-200. doi: 10.1146/annurev-genom-091416-035517. Epub 2019 Apr 12.


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.

Keywords: PAGE; diversity; fine mapping; genomics; multiethnic; transethnic.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Bias
  • Databases, Factual
  • Ethnicity / genetics*
  • Genetic Variation*
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Human Genetics / trends*
  • Humans
  • Metagenomics / trends*
  • Molecular Epidemiology / trends*
  • Phenotype
  • Racial Groups / genetics*