Population Pharmacogenomics for Health Equity

Abstract

Health equity means the opportunity for all people and populations to attain optimal health, and it requires intentional efforts to promote fairness in patient treatments and outcomes. Pharmacogenomic variants are genetic differences associated with how patients respond to medications, and their presence can inform treatment decisions. In this perspective, we contend that the study of pharmacogenomic variation within and between human populations-population pharmacogenomics-can and should be leveraged in support of health equity. The key observation in support of this contention is that racial and ethnic groups exhibit pronounced differences in the frequencies of numerous pharmacogenomic variants, with direct implications for clinical practice. The use of race and ethnicity to stratify pharmacogenomic risk provides a means to avoid potential harm caused by biases introduced when treatment regimens do not consider genetic differences between population groups, particularly when majority group genetic profiles are assumed to hold for minority groups. We focus on the mitigation of adverse drug reactions as an area where population pharmacogenomics can have a direct and immediate impact on public health.

Keywords: adverse drug reactions; ancestry; ethnicity; health disparities; health equity; pharmacogenomics; population; race.

Figure 1

Pharmacogenomic variation corresponds to self-identified race and ethnicity. Principal component analysis for (A) All of Us and (B) UKB based on pharmacogenomic variants. Individual participants are shown as circles and color-coded by their self-identified race or ethnicity (see key below plot). The percent accuracy with which pharmacogenomic variation predicts race and ethnicity is shown for (C) All of Us and (D) UKB.