The need to diversify genomic studies: Insights from Andean highlanders and Amazonians

Isabela Alvim; Carolina Silva-Carvalho; Marla Mendes de Aquino; Victor Borda; Cesar Sanchez; Carlos Padilla; Omar Cáceres; Isabela Rezende-Diniz; Julia Saraiva-Duarte; Lucas Faria-Costa; Meddly L Santolalla; Fernanda Rodrigues-Soares; Camila Zolini; Adrián Llerena; Timothy D O'Connor; Robert H Gilman; Heinner Guio; Eduardo Tarazona-Santos

doi:10.1016/j.cell.2024.07.009

The need to diversify genomic studies: Insights from Andean highlanders and Amazonians

Cell. 2024 Sep 5;187(18):4819-4823. doi: 10.1016/j.cell.2024.07.009. Epub 2024 Aug 8.

Authors

Isabela Alvim¹, Carolina Silva-Carvalho², Marla Mendes de Aquino³, Victor Borda⁴, Cesar Sanchez⁵, Carlos Padilla⁵, Omar Cáceres⁵, Isabela Rezende-Diniz², Julia Saraiva-Duarte², Lucas Faria-Costa², Meddly L Santolalla⁶, Fernanda Rodrigues-Soares⁷, Camila Zolini², Adrián Llerena⁸, Timothy D O'Connor⁹, Robert H Gilman¹⁰, Heinner Guio¹¹, Eduardo Tarazona-Santos¹²

Affiliations

¹ Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; School of Natural Sciences, Massey University, Palmerston North, New Zealand; School of BioSciences, University of Melbourne, Melbourne, VIC, Australia; St. Vincent's Institute of Medical Research, Melbourne, VIC, Australia.
² Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
³ Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; The Centre for Applied Genomics and Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
⁴ Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA; The University of Maryland-Institute for Health Computing, University of Maryland School of Medicine, North Bethesda, MD 20852, USA.
⁵ Instituto Nacional de Salud, Lima, Peru.
⁶ Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Emerge, Emerging Diseases and Climate Change Research Unit, School of Public Health and Administration, Universidad Peruana Cayetano Heredia, Lima, Peru.
⁷ Department of Pathology, Genetic and Evolution, Biological and Natural Sciences Institute, Universidade Federal do Triângulo Mineiro, Uberaba, Brazil.
⁸ INUBE Extremadura Biosanitary Research Institute, Faculty of Medicine, University of Extremadura, Badajoz, Spain.
⁹ Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Program in Health Equity and Population Health, University of Maryland School of Medicine, Baltimore, MD, USA; Program in Personalized Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
¹⁰ Department of International Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
¹¹ Instituto Nacional de Salud, Lima, Peru; INBIOMEDIC Research and Technological Center, Lima, Peru; Universidad de Huanuco, Huanuco, Peru.
¹² Department of Genetics, Ecology and Evolution, Biological Sciences Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Emerge, Emerging Diseases and Climate Change Research Unit, School of Public Health and Administration, Universidad Peruana Cayetano Heredia, Lima, Peru. Electronic address: edutars@gmail.com.

PMID: 39121858
DOI: 10.1016/j.cell.2024.07.009

Abstract

More globally diverse perspectives are needed in genomic studies and precision medicine practices on non-Europeans. Here, we illustrate this by discussing the distribution of clinically actionable genetic variants involved in drug response in Andean highlanders and Amazonians, considering their environment, history, genetic structure, and historical biases in the perception of biological diversity of Native Americans.

MeSH terms

Genetic Variation
Genome, Human
Genomics*
Humans
Indians, South American / genetics
Precision Medicine
South America