The Gene-Drug Duality: Exploring the Pharmacogenomics of Indigenous Populations

Abstract

While pharmacogenomic studies have facilitated the rapid expansion of personalized medicine, the benefits of these findings have not been evenly distributed. Genomic datasets pertaining to Indigenous populations are sorely lacking, leaving members of these communities at a higher risk of adverse drug reactions (ADRs), and associated negative outcomes. Australia has one of the largest Indigenous populations in the world. Pharmacogenomic studies of these diverse Indigenous Australian populations have been hampered by a paucity of data. In this article, we discuss the history of pharmacogenomics and highlight the inequalities that must be addressed to ensure equal access to pharmacogenomic-based healthcare. We also review efforts to conduct the pharmacogenomic profiling of chronic diseases among Australian Indigenous populations and survey the impact of the lack of drug safety-related information on potential ADRs among individuals in these communities.

CYP2D6 and CYP2C19 Variant Coverage of Commercial Antidepressant Pharmacogenomic Testing Panels Available in Victoria, Australia

“…However, this study included mostly participants of a European background. There is also limited information about allelic diversity of CYP2C19 and CYD2D6 within Indigenous populations outside of northern Australia [29][30][31] to inform testing in this group. Further complicating matters, while it is important to consider self-reported race/ethnicity in PGx testing, there are considerable limitations in self-reported race/ethnicity as these often involve some element of social construction and do not reliably capture an individual's genetic ancestry [32].…”

From Croatian Roma to 1000 Genomes: The Story of the CYP2D6 Gene Promoter and Enhancer SNPs

“…Population pharmacogenomics is a growing area driven by increasing population data on genes responsible for absorption, distribution, metabolism and excretion (ADME genes). Population ancestry may affect the diversity of genetic polymorphisms, leading to population-specific differences in drug responses [ 32 ]. Within population pharmacogenomics, special attention should be given to the study of indigenous and/or minority populations which, due to their genetic history, show a specific distribution of alleles that can alter drug metabolism and lead to adverse drug reactions (ADR).…”

Implementing community-engaged pharmacogenomics in Indigenous communities

“…Pharmacogenomic initiatives with Indigenous populations are global clinical research priorities 1 , 39 – 41 , highlighting the need for comprehensive characterization of pharmacogenetic variation to guide precise medication management for Indigenous patients. The translation of pharmacogenomics research into clinical practice has generated much enthusiasm for the possibility to improve outcomes and personalize treatments, yet remains largely unfulfilled for Indigenous communities.…”