# Pharmacogenomics, human genetic diversity and the incorporation and rejection of color/race in Brazil

**Authors:** Ricardo Ventura Santos, Gláucia Oliveira da Silva, Sahra Gibbon

PMC · DOI: 10.1057/biosoc.2014.21 · 2015-08-17

## TL;DR

This paper explores how pharmacogenomics research in Brazil handles race differently than in the US, influenced by Brazil's genetic diversity and historical context.

## Contribution

The paper highlights Brazil's unique approach to race and pharmacogenomics, blending rejection and acceptance of the race-genes paradigm.

## Key findings

- Brazilian pharmacogenomic interpretations differ from those in the US due to genomic heterogeneity.
- Brazilian scientists critique racial categorization in drug dosage algorithms used globally.
- The study shows how race mixture is valued in Brazilian genetic research for transnational applications.

## Abstract

Public funding for research on the action of drugs in countries like the United States requires that racial classification of research subjects should be considered when defining the composition of the samples as well as in data analysis, sometimes resulting in interpretations that Whites and Blacks differ in their pharmacogenetic profiles. In Brazil, pharmacogenomic results have led to very different interpretations when compared with those obtained in the United States. This is explained as deriving from the genomic heterogeneity of the Brazilian population. This article argues that in the evolving field of pharmacogenomics research in Brazil there is simultaneously both an incorporation and rejection of the US informed race-genes paradigm. We suggest that this must be understood in relation to continuities with national and transnational history of genetic research in Brazil, a differently situated politics of Brazilian public health and the ongoing valorization of miscegenation or race mixture by Brazilian geneticists as a resource for transnational genetic research. Our data derive from anthropological investigation conducted in INCA (Brazilian National Cancer Institute), in Rio de Janeiro, with a focus on the drug warfarin. The criticism of Brazilian scientists regarding the uses of racial categorization includes a revision of mathematical algorithms for drug dosage widely used in clinical procedures around the world. Our analysis reveals how the incorporation of ideas of racial purity and admixture, as it relates to the efficacy of drugs, touches on issues related to the possibility of application of pharmaceutical technologies on a global scale.

## Full-text entities

- **Genes:** VKORC1 (vitamin K epoxide reductase complex subunit 1) [NCBI Gene 79001] {aka EDTP308, MST134, MST576, VKCFD2, VKOR}, ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) [NCBI Gene 28] {aka A3GALNT, A3GALT1, GTA, GTB, NAGAT}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, CYP2C9 (cytochrome P450 family 2 subfamily C member 9) [NCBI Gene 1559] {aka CPC9, CYP2C, CYP2C10, CYPIIC9, P450-2C9, P450IIC9}
- **Diseases:** thromboembolism (MESH:D013923), Cancer (MESH:D009369), Type 2 Diabetes (MESH:D003924), Muscular Dystrophy (MESH:D009136), bleeding (MESH:D006470), Warfarin (MESH:C536683), STS (MESH:C000719218), racial discrimination (MESH:D010468)
- **Species:** Astacoidea (crayfish, superfamily) [taxon 6724], Homo sapiens (human, species) [taxon 9606], Drosophila melanogaster (fruit fly, species) [taxon 7227], Didelphidae (American opossums, family) [taxon 9265], Callinectes sapidus (blue crab, species) [taxon 6763], Mus musculus (house mouse, species) [taxon 10090]
- **Mutations:** 40 INDELS

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Source: https://tomesphere.com/paper/PMC4538779