Applying an equity lens to pharmacogenetic research and translation to under‐represented populations

Abstract

Since the publication of the Human Genome Project, genetic information has been used as an accepted, evidence-based biomarker to optimize patient care through the delivery of precision health. Pharmacogenetics (PGx) uses information about genes that encode proteins involved in pharmacokinetics, pharmacodynamics, and hypersensitivity reactions to guide clinical decision making to optimize medication therapy selection. Clinical PGx implementation is growing from the dramatic increase in PGx studies over the last decade. However, an overwhelming lack of genetic diversity in current PGx studies is evident. This lack of diverse representation in PGx studies will impede equitable clinical implementation through potentially inappropriate application of gene-based dosing algorithms, while representing a missed opportunity for identification of population specific single nucleotide variants and alleles. In this review we discuss the challenges of studying PGx in underrepresented populations, highlight two successful PGx studies conducted in non-European populations, and propose a path forward through community-based participatory research for equitable PGx research and clinical translation.

Addressing disparities in pharmacogenomics through rural and underserved workforce education

“…Beyond clinical implementation, research efforts to identify novel variants that may impact PGx are also needed Luczak et al (2021b) . describe approaching PGx research and translation with an equity lens to populations historically excluded from this type of research.…”

How Pharmacogenomics Informs and Influences the Medication Experience

“… 47 Of note, two reviews addressing health equity and PGx as well as taking a community-based participatory research approach are reviewed elsewhere. 48 , 49 While PGx as a tool has the potential to reduce existing health disparities, it also has the potential to worsen them if minority and underrepresented populations are excluded from PGx research or if PGx is not widely accessible. The MedXp is impacted by socioeconomic and environmental factors, and accounting for how and where PGx fits will largely depend on the individual.…”

The Intersection between Pharmacogenomics and Health Equity: A Case Example

“…Much like any new clinical implementation or change in standard of practice, the research in PGx has served as the foundation to incorporating PGx into clinical practice. While not unique to PGx research, the lack of equitable non-European representation in PGx research has led to a call to action among the PGx community [21]. The clinical evidence base for equitable genomic medicine is strengthened by increasing the diversity of populations included in genetic analysis [22][23][24].…”