| Summary: | Alice B Popejoy1–3 1Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA; 2Center for Computational, Evolutionary and Human Genomics (CEHG), Stanford University, Stanford, CA, USA; 3Center for Integration of Research on Genetics and Ethics (CIRGE), Stanford University, Stanford, CA, USACorrespondence: Alice B PopejoyMedical School Office Building (MSOB), Stanford University School of Medicine, Third Floor, 1265 Welch Road, Stanford, CA 94305, USATel +1 916 837 2951Email apopejoy@stanford.eduAbstract: Genome-wide association studies (GWAS) have revealed important links between genetic markers across the human genome and phenotypic traits, including risk factors for disease. Studies have shown that GWAS continue to be overwhelmingly conducted on people of primarily European descent, despite the fact that the vast majority of human genomic variation is present in non-European populations such as those in Africa. To enhance our understanding of diversity in the pharmacogenomics and precision medicine literature, this review provides a window into the representation of biogeographical populations that have been studied for pharmacogenetic traits, such as enzyme metabolism and adverse drug response. Using the Medical Subject Headings (MeSH) ontology search terms in PubMed, studies were identified that are either population-based, or include a description of the study population on the basis of biological or environmental diversity. The results of this scoping review indicate that the majority of relevant papers (>95% of studies tagged in PubMed with MeSH terms “precision medicine” or “pharmacogenetics”, N=23,701) are not annotated with the “population group” MeSH term, suggesting that the majority of studies in this literature are not population-based, or the authors chose not to describe the study population. Among those studies related to pharmacogenetics or precision medicine that are specific to human population groups (N=1006) and were included in the analysis after filtering and screening on eligibility criteria (N=192), the majority of single-population studies included individuals of African, Asian, and European origins, or genetic ancestry. Combining studies of single and multiple populations, 33% involve participants of Asian origin or ancestry; 30% European; 24% African; 10% Hispanic or Latino; and < 3% American Indian or Alaska Native. These data provide a baseline for future comparison, indicating which biogeographic groups have informed the pharmacogenomic knowledgebase specific to diverse human populations. Challenges and potential solutions to improve diversity in the field and in genetics research more broadly are discussed.Keywords: GWAS, population groups, biogeographic populations, scoping review, genomic variation, representation
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