Addressing genetic diversity and health inequities: RELIVAF’s proposal for Latin American pharmacogenomic guidelines

Latin America's exceptional genetic diversity, shaped by centuries of admixture among Native American, European, and African ancestries, presents both challenges and opportunities for pharmacogenomic implementation. Current guidelines by CPIC and DPWG, though foundational, are largely based on European and East Asian data, limiting their applicability in highly admixed populations. This article presents the rationale and methodology of RELIVAF (Latin American Network for the Implementation and Validation of Pharmacogenomic Clinical Guidelines), which aims to produce region-specific recommendations aligned with local genetic profiles, healthcare systems, and regulatory landscapes. The framework integrates international standards with country- and ancestry-specific allele frequencies, effect sizes, drug availability, and implementation constraints. It also incorporates educational strategies to promote pharmacogenomic literacy among healthcare professionals. Three gene-drug pairs were prioritized for initial guideline development: <i>DPYD</i>-fluoropyrimidines, <i>TPMT/NUDT15</i>-thiopurines (paediatric ALL), and <i>CYP2C9/VKORC1</i>-coumarin anticoagulants (e.g., warfarin, acenocoumarol). Selection was based on clinical relevance, allele frequency variability, and potential public health impact. By leveraging regional data and collaborative expertise, RELIVAF aims to deliver actionable, equitable, and context-specific pharmacogenomic guidance, advancing precision medicine in Latin America and serving as a model for other underrepresented regions.

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Journal
Frontiers in Pharmacology
Published
2026-01-22
DOI
https://doi.org/10.3389/fphar.2026.1721828
Primary Topic
Pharmacogenetics and Drug Metabolism
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article
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article

Addressing genetic diversity and health inequities: RELIVAF’s proposal for Latin American pharmacogenomic guidelines

Enrique Sánchez, Ramón Vargas, Andrés López‐Cortés, Leslie C. Cerpa et al.
Frontiers in Pharmacology
Pharmacogenetics and Drug Metabolism
article

Addressing genetic diversity and health inequities: RELIVAF’s proposal for Latin American pharmacogenomic guidelines

Enrique Sánchez, Ramón Vargas, Andrés López‐Cortés, Leslie C. Cerpa, Luis Sullón-Dextre, Alexis Morales, Ana Lucía Rendón, Diadelis Remírez, María Laura Arias, Roberto Serrano, Jorge S. Duconge, María Ana Redal, Patricia Esperon, Elizabeth Ortega, Fabricio Ríos-Santos, Dora Fonseca, Ismael Lares-Asseff, Matías F. Martínez, Nelson M. Varela, Farith González-Martínez
article en

Abstract

Latin America's exceptional genetic diversity, shaped by centuries of admixture among Native American, European, and African ancestries, presents both challenges and opportunities for pharmacogenomic implementation. Current guidelines by CPIC and DPWG, though foundational, are largely based on European and East Asian data, limiting their applicability in highly admixed populations. This article presents the rationale and methodology of RELIVAF (Latin American Network for the Implementation and Validation of Pharmacogenomic Clinical Guidelines), which aims to produce region-specific recommendations aligned with local genetic profiles, healthcare systems, and regulatory landscapes. The framework integrates international standards with country- and ancestry-specific allele frequencies, effect sizes, drug availability, and implementation constraints. It also incorporates educational strategies to promote pharmacogenomic literacy among healthcare professionals. Three gene-drug pairs were prioritized for initial guideline development: <i>DPYD</i>-fluoropyrimidines, <i>TPMT/NUDT15</i>-thiopurines (paediatric ALL), and <i>CYP2C9/VKORC1</i>-coumarin anticoagulants (e.g., warfarin, acenocoumarol). Selection was based on clinical relevance, allele frequency variability, and potential public health impact. By leveraging regional data and collaborative expertise, RELIVAF aims to deliver actionable, equitable, and context-specific pharmacogenomic guidance, advancing precision medicine in Latin America and serving as a model for other underrepresented regions.

Frontiers in PharmacologyVol. 17
Organization for Tropical Studies (CR), University of Cartagena (CO), University of Puerto Rico, Medical Sciences Campus (PR), Universidad de la República de Uruguay (UY), Galileo University (GT), Istituto Nazionale di Fisica Nucleare, Galileo Galilei Institute for Theoretical Physics (IT), Universidad de Costa Rica (CR), Universidade Federal de Mato Grosso (BR), Universidad de Las Américas (EC), Krishi Vigyan Kendra, Latur (IN), Sociedad Española de Farmacología Clínica (ES), Hospital de Clínicas "José de San Martín" (AR), Los Alamos Technical Associates (United States) (US), National Autonomous University of Honduras (HN), Taiwan Centers for Disease Control (TW), National Institute of Quality (PE), Universidad de Los Andes (BO), PharmacoGenetics (China) (CN), Instituto de Química y Fisicoquímica Biológicas (AR), Pharmaceutical Biotechnology (Czechia) (CZ), University of Chile (CL), Universidad del Rosario (CO)
Quality Education
Openalex Percentile: Top 81%
Pharmacogenetics and Drug Metabolism
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