Professional Education


  • Bachelor of Arts, Hamilton College (2009)
  • Certificate, University of Washington, Statistical Genetics (2015)
  • Doctor of Philosophy, University of Washington (2017)

Stanford Advisors


All Publications


  • Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. Cell Peterson, R. E., Kuchenbaecker, K., Walters, R. K., Chen, C., Popejoy, A. B., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R. J., Brick, L., Carey, C. E., Martin, A. R., Meyers, J. L., Su, J., Chen, J., Edwards, A. C., Kalungi, A., Koen, N., Majara, L., Schwarz, E., Smoller, J. W., Stahl, E. A., Sullivan, P. F., Vassos, E., Mowry, B., Prieto, M. L., Cuellar-Barboza, A., Bigdeli, T. B., Edenberg, H. J., Huang, H., Duncan, L. E. 2019

    Abstract

    Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

    View details for DOI 10.1016/j.cell.2019.08.051

    View details for PubMedID 31607513

  • Standardized Biogeographic Grouping System for Annotating Populations in Pharmacogenetic Research CLINICAL PHARMACOLOGY & THERAPEUTICS Huddart, R., Fohner, A. E., Whirl-Carrillo, M., Wojcik, G. L., Gignoux, C. R., Popejoy, A. B., Bustamante, C. D., Altman, R. B., Klein, T. E. 2019; 105 (5): 1256–62

    View details for DOI 10.1002/cpt.1322

    View details for Web of Science ID 000466750900030

  • Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation PHARMACOGENOMICS & PERSONALIZED MEDICINE Popejoy, A. B. 2019; 12: 257–71
  • Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation. Pharmacogenomics and personalized medicine Popejoy, A. B. 2019; 12: 257–71

    Abstract

    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.

    View details for DOI 10.2147/PGPM.S179742

    View details for PubMedID 31686892

    View details for PubMedCentralID PMC6800456

  • Standardized biogeographic grouping system for annotating populations in pharmacogenetic research. Clinical pharmacology and therapeutics Huddart, R., Fohner, A. E., Whirl-Carrillo, M., Wojcik, G. L., Gignoux, C. R., Popejoy, A. B., Bustamante, C. D., Altman, R. B., Klein, T. E. 2018

    Abstract

    The varying frequencies of pharmacogenetic alleles between 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 PharmGKB. This article is protected by copyright. All rights reserved.

    View details for PubMedID 30506572

  • The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Human mutation Popejoy, A. B., Ritter, D. I., Crooks, K., Currey, E., Fullerton, S. M., Hindorff, L. A., Koenig, B., Ramos, E. M., Sorokin, E. P., Wand, H., Wright, M. W., Zou, J., Gignoux, C. R., Bonham, V. L., Plon, S. E., Bustamante, C. D., Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG) 2018; 39 (11): 1713–20

    Abstract

    The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data collection and use in clinical genomics. We present quantitative and qualitative evidence to characterize: (1) acquisition of REA data via clinical laboratory requisition forms, and (2) information disparity across populations in the Genome Aggregation Database (gnomAD) at clinically relevant sites ascertained from annotations in ClinVar. Our requisition form analysis showed substantial heterogeneity in clinical laboratory ascertainment of REA, as well as marked incongruity among terms used to define REA categories. There was also striking disparity across REA populations in the amount of information available about clinically relevant variants in gnomAD. European ancestral populations constituted the majority of observations (55.8%), allele counts (59.7%), and private alleles (56.1%) in gnomAD at 550 loci with "pathogenic" and "likely pathogenic" expert-reviewed variants in ClinVar. Our findings highlight the importance of implementing and supporting programs to increase diversity in genome sequencing and clinical genomics, as well as measuring uncertainty around population-level datasets that are used in variant interpretation. Finally, we suggest the need for a standardized REA data collection framework to be developed through partnerships and collaborations and adopted across clinical genomics.

    View details for PubMedID 30311373

  • Genomics is failing on diversity NATURE Popejoy, A. B., Fullerton, S. M. 2016; 538 (7624): 161–64

    View details for DOI 10.1038/538161a

    View details for Web of Science ID 000386671000016

    View details for PubMedID 27734877

    View details for PubMedCentralID PMC5089703