Standardized Biogeographic Grouping System for Annotating Populations in Pharmacogenetic Research

Rachel Huddart, Alison E. Fohner, Michelle Whirl-Carrillo, Genevieve L. Wojcik, Christopher R. Gignoux, Alice B. Popejoy, Carlos D. Bustamante, Russ B. Altman, Teri E. Klein

Research output: Contribution to journalArticlepeer-review


The varying frequencies of pharmacogenetic alleles among populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub-Saharan African, and two admixed groups: African American/Afro-Caribbean and Latino. These nine groups are defined by global autosomal genetic structure and based on data from large-scale sequencing initiatives. We recognize that broadly grouping global populations is an oversimplification of human diversity and does not capture complex social and cultural identity. However, these groups meet a key need in pharmacogenetics research by enabling consistent communication of the scale of variability in global allele frequencies and are now used by Pharmacogenomics Knowledgebase (PharmGKB).

Original languageEnglish (US)
Pages (from-to)1256-1262
Number of pages7
JournalClinical pharmacology and therapeutics
Issue number5
StatePublished - May 2019
Externally publishedYes

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)


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