Bridging the Genomics Divide: Enhancing Indigenous Health Worldwide
Scientists are gradually uncovering genetic variations in regions like Latin America, Africa, and Asia, aiming to enhance and broaden healthcare options through more inclusive medical research.
Hidden within minor genetic variations lie insights into why so many of us succumb to illnesses such as cancer and how our bodies react to their respective medical therapies.
We have 99.9% identical human DNA. — The series of genes, or genetic data, that enables our functioning and survival. However, the 0.1% variance in human DNA among individuals can expose the reasons for our differing health results.
A considerable amount of study is dedicated to genetics and genomics because these disciplines can elucidate how genes are inherited across generations and how our collective set of genes functions. — our genomes — Make us more or less prone to contracting an illness.
The issue at hand is that over 80% of genetic research encompasses participants solely of European ancestry. Consequently, these studies reflect no more than 20% of the global populace. This situation is resulting in what certain specialists deem as medical inequality. —or a “gap in genomics”.
The field of medicine has its injustices. particularly in genetics "We have significantly more knowledge regarding the genetic foundations of diseases in individuals of European descent—whether Europeans or U.S. whites—compared to those from other backgrounds," stated Eduardo Tarazona-Santos, a geneticist from Universidade Federal de Minas Gerais in Brazil.
Tarazona-Santos has been striving to address this inequality by collecting information on genetic variations between two native groups in Latin America—one from the Andean mountains and the other from the Amazon basin.
Published in the journal Cell The research revealed that minor genetic variations led to different reactions to drugs used for treating blood clots and elevated cholesterol levels.
The genetic disparities were comparable to those seen between Europeans and East Asians, even though these two populations resided merely 100 to 200 kilometers (60 to 125 miles) away from each other.
" Our research highlights the importance of recognizing that ethnic groups often seen as homogenous, like the indigenous populations of the Americas, are indeed not uniform," Tarazona-Santos stated.
Differences in genetics among native communities
Tarazona-Santos' group examined genetic information from 249 people belonging to 17 different indigenous communities. According to study co-author Victor Borda, they also assessed the frequency of genetic variations that influence drug responses.
They discovered variations in two particular genes—ABCG2 and VKORC1—between the inhabitants of the Andean Highlands and those from the Amazon Lowlands.
"These genetic variations hold significance since the ABCG2 variation affects how well simvastatin, which is prescribed for reducing high cholesterol levels, works. Individuals who possess an unfavorable set of these variations ought to consider using a different medication," explained Borda.
However, they discovered that merely 2% of Andeans require an alternate therapy instead of simvastatin, compared with 14% of Amazonians who would necessitate a different approach.
The findings further indicated that variations in the VKORC1 gene might affect how patients respond to warfarin, a medication prescribed for treating blood clots and lowering the chances of heart attacks and strokes.
"According to Tarazona-Santos, we discovered that 69% of the Andean population compared to 93% of the Amazonian group would necessitate a reduced dose of warfarin because they possess the VKORC1 genetic variation," he stated.
According to Fatumo, a geneticist from Queen Mary University of London in the UK, the study highlighted the importance for geneticists to examine more varied populations.
"There are numerous other communities worldwide similar to [the Andean and Amazonian indigenous peoples] that require comparable study," stated Fatumo.
Personalized medicine might assist native populations.
Precision medicine employs an individual’s particular health information, such as genetic details, to customize medical treatments according to personal requirements instead of following a traditional “one-size-fits-all” method.
Fatumo noted that it could enable us to provide far more tailored treatments to individuals according to their genetic makeup, as illustrated in studies involving medications such as warfarin.
However, up until now, precision medicine utilizing genetic information has primarily benefited individuals of European ancestry. Tarazona aims for this new study to extend precision medicine to those with indigenous heritage within Brazil’s healthcare framework.
Tarazona-Santos suggested that this advancement could enhance therapy for kids suffering from leukemia and prevent negative reactions to medications, as well as improving treatments involving antidepressants and certain heart conditions.
Homogeneous genomic research initiatives amount to 'self-sabotage' in the scientific community.
Fatumo stated that science has inflicted "self-damage" by failing to accelerate diversity in genomic studies: "Many additional genetic variations remain undiscovered within various populations. These could aid in discovering novel therapies and understanding why specific medications prove advantageous or detrimental to particular individuals rather than others."
However, changes are underway. There are genetic analyses underway In Africa and Asia, along with Latin America, these initiatives frequently form major endeavors like The Nigerian 100K Genome Project.
Tarazona-Santos' team has begun working with a significantly larger dataset, aiming to sequence 60,000 Brazilian genomes originating from various backgrounds.
Emerging global genetics research is starting to yield promising outcomes. As Fatumo explained, "We now have medications that can reduce cholesterol levels and prevent heart attacks. The discovery of PCSK9 inhibitors came about due to certain individuals with African ancestry who possessed genetic variations in the PCSK9 gene, resulting in reduced cholesterol." He further noted that numerous additional therapies could potentially be uncovered through an examination of genomic data from populations worldwide.
Edited by: Zulfikar Abbany
Primary source:
The importance of broadening genomic research: Lessons learned from Andean highlanders and Amazonians, as detailed by Alvim et al. in the journal Cell (August 2024). http://dx.doi.org/10.1016/j.cell.2024.07.009
Author: Fred Schwaller