Population Pharmacogenomics for Health Equity

Author:

Jordan I. King1ORCID,Sharma Shivam1,Mariño-Ramírez Leonardo2ORCID

Affiliation:

1. School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332, USA

2. National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD 20892, USA

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.

Funder

National Institute on Minority Health and Health Disparities

IHRC-Georgia Tech Applied Bioinformatics Laboratory

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. National Insititute on Minority Health and Health Disparities (2023, July 15). What is Health Equity?, Available online: https://www.nimhd.nih.gov/resources/understanding-health-disparities/health-equity.html.

2. National Insititute on Minority Health and Health Disparities (2023, July 15). Minority Health and Health Disparities: Definitions and Parameters, Available online: https://www.nimhd.nih.gov/about/strategic-plan/nih-strategic-plan-definitions-and-parameters.html.

3. National Academies of Sciences Engineering and Medicine (2023). Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, The National Academies Press.

4. Colombian Government (2023, July 15). Population and Demography: Ethnic Groups, Available online: http://www.dane.gov.co/index.php/en/statistics-by-topic-1/population-and-demography/ethnic-groups.

5. Unite Kingdom Government (2023, July 15). List of Ethnic Groups, Available online: https://www.ethnicity-facts-figures.service.gov.uk/style-guide/ethnic-groups.

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