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

Stephanie A. Bien, Genevieve L. Wojcik, Chani J. Hodonsky, Christopher R. Gignoux, Iona Cheng, Tara C. Matise, Ulrike Peters, Eimear E. Kenny, Kari E. North

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Pages (from-to)181-200
Number of pages20
JournalAnnual Review of Genomics and Human Genetics
Volume20
DOIs
StatePublished - Aug 31 2019

Keywords

  • PAGE
  • diversity
  • fine mapping
  • genomics
  • multiethnic
  • transethnic

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Bien, S. A., Wojcik, G. L., Hodonsky, C. J., Gignoux, C. R., Cheng, I., Matise, T. C., Peters, U., Kenny, E. E., & North, K. E. (2019). The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE. Annual Review of Genomics and Human Genetics, 20, 181-200. https://doi.org/10.1146/annurev-genom-091416-035517