A new commentary published in Cell on August 8 underscores significant genetic differences between indigenous populations from the Andes and the Amazon, revealing that these differences are comparable to those observed between Europeans and East Asians. These findings emphasize the necessity of incorporating genetic diversity into genomics research to tailor drug therapies more effectively.
Historically, indigenous American populations have been oversimplified as a homogeneous group. However, research led by Eduardo Tarazona-Santos from Universidade Federal de Minas Gerais, Brazil, demonstrates that genetic variations are influenced by environmental, historical, and cultural factors, leading to substantial genetic differentiation between populations residing just miles apart.
Genetic Diversity Revealed Through Comprehensive Analysis
The research team analyzed the genomes of 294 individuals from 17 indigenous Peruvian groups spanning the Andes and Amazon regions. This extensive analysis revealed distinct genetic variations that impact drug responses. For instance, genetic differences affect how populations respond to rosuvastatin, a medication used to manage cholesterol levels. The data show that 16% of indigenous Amazonians require a lower initial dose of rosuvastatin to mitigate side effects, compared to only 2% of indigenous Andeans.
“A low-oxygen and dry, high-altitude environment characterizes the Andean region, while the Amazon region is a low-altitude tropical forest. These vastly different environmental stressors can drive genetic changes and biological adaptations,” says Tarazona-Santos. The research highlights that environmental factors, alongside cultural and historical influences, have shaped genetic adaptations in these populations.
Impact of Genetic Variants on Drug Dosage
The study also explores how genetic variations affect warfarin dosage, a critical medication for treating blood clots. The researchers found that 93% of indigenous Amazonians need a reduced dosage of warfarin, whereas only 69% of Andeans require this adjustment. This disparity underscores the significance of genetic factors in determining appropriate drug dosages to avoid adverse effects and ensure therapeutic efficacy. “These pharmacology-affecting genetic differences observed in the Andeans and Amazonians are even larger than those seen between Europeans and Asians,” Tarazona-Santos notes.
Addressing the Diversity Gap in Genomics
The findings call attention to the critical need for inclusive genomics research that reflects the diversity of human populations. By incorporating genetic data from diverse ethnic and socioeconomic backgrounds, researchers can improve the precision and effectiveness of medical treatments.
The commentary advocates for a shift away from viewing ethnic groups as monolithic entities in genomics research. Instead, it stresses the importance of representing diverse populations to achieve equitable healthcare outcomes globally.
Including people from diverse socioeconomic and ethnic backgrounds in research groups is very important for human genomics studies, concludes Tarazona-Santos. “It makes research and community engagement easier, offering transparency and confidence. It makes people more comfortable seeing familiar faces from the same community.”
Publication Details
Alvim I, Silva-Carvalho C, Mendes de Aquino M, et al. The need to diversify genomic studies: Insights from Andean highlanders and Amazonians. Cell. 2024;186(8):1234-1245. doi:10.1016/j.cell.2024.07.009
Historically, indigenous American populations have been oversimplified as a homogeneous group. However, research led by Eduardo Tarazona-Santos from Universidade Federal de Minas Gerais, Brazil, demonstrates that genetic variations are influenced by environmental, historical, and cultural factors, leading to substantial genetic differentiation between populations residing just miles apart.
Genetic Diversity Revealed Through Comprehensive Analysis
The research team analyzed the genomes of 294 individuals from 17 indigenous Peruvian groups spanning the Andes and Amazon regions. This extensive analysis revealed distinct genetic variations that impact drug responses. For instance, genetic differences affect how populations respond to rosuvastatin, a medication used to manage cholesterol levels. The data show that 16% of indigenous Amazonians require a lower initial dose of rosuvastatin to mitigate side effects, compared to only 2% of indigenous Andeans.
“A low-oxygen and dry, high-altitude environment characterizes the Andean region, while the Amazon region is a low-altitude tropical forest. These vastly different environmental stressors can drive genetic changes and biological adaptations,” says Tarazona-Santos. The research highlights that environmental factors, alongside cultural and historical influences, have shaped genetic adaptations in these populations.
Impact of Genetic Variants on Drug Dosage
The study also explores how genetic variations affect warfarin dosage, a critical medication for treating blood clots. The researchers found that 93% of indigenous Amazonians need a reduced dosage of warfarin, whereas only 69% of Andeans require this adjustment. This disparity underscores the significance of genetic factors in determining appropriate drug dosages to avoid adverse effects and ensure therapeutic efficacy. “These pharmacology-affecting genetic differences observed in the Andeans and Amazonians are even larger than those seen between Europeans and Asians,” Tarazona-Santos notes.
Addressing the Diversity Gap in Genomics
The findings call attention to the critical need for inclusive genomics research that reflects the diversity of human populations. By incorporating genetic data from diverse ethnic and socioeconomic backgrounds, researchers can improve the precision and effectiveness of medical treatments.
The commentary advocates for a shift away from viewing ethnic groups as monolithic entities in genomics research. Instead, it stresses the importance of representing diverse populations to achieve equitable healthcare outcomes globally.
Including people from diverse socioeconomic and ethnic backgrounds in research groups is very important for human genomics studies, concludes Tarazona-Santos. “It makes research and community engagement easier, offering transparency and confidence. It makes people more comfortable seeing familiar faces from the same community.”
Publication Details
Alvim I, Silva-Carvalho C, Mendes de Aquino M, et al. The need to diversify genomic studies: Insights from Andean highlanders and Amazonians. Cell. 2024;186(8):1234-1245. doi:10.1016/j.cell.2024.07.009