Scientists are gradually uncovering genetic variations in regions like Latin America, Africa, and Asia, aiming to enhance and broaden healthcare options through more diversified medicine.
Hiding within minor genetic variations lie insights into why so many of us succumb to conditions such as cancer and how our bodies react to their corresponding medical therapies.
We have 99.9% identical human DNA. — The order of genes, which contains the biological instructions for our functioning and survival, varies by just 0.1% among individuals. This small difference in human DNA can explain why our health results vary.
A significant amount of study is devoted to genetics and genomics because these disciplines can elucidate how genes are inherited across generations and how our entire set of genes function collectively. — our genomes — Make us more or less prone to contracting an illness.
The issue at hand is that over 80% of genetic research involves 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 an inequity within medical practices. —or a “gap in genomics”.
The medical field harbors an inequity. particularly in genetics "We have significantly more knowledge about 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 rectify this inequity by collecting information on genetic variations among two indigenous groups in Latin America—one from the Andean Highlands and the other from the Amazon Lowlands.
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 the 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 to INSPIRATIONS DIGITAL.
Differences in genetics among native communities
Tarazona-Santos' research group examined genetic information from 249 people belonging to 17 different indigenous communities. "Subsequently, we assessed the frequency of genetic variations that influence drug responses," stated study co-author Victor Borda.
They discovered variations in two particular genes—ABCG2 and VKORC1—between the Andean highland dwellers and the Amazonian lowland inhabitants.
"Genetic variations play a crucial role since the ABCG2 variation affects how well simvastatin, which treats high cholesterol, works. People who have an unfavorable set of these variations might require a different medication," explained Borda.
However, they discovered that merely 2% of Andeans require an alternate treatment to simvastatin, compared with 14% of Amazonians who would need 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 individuals from the Andean region compared to 93% from the Amazonian area would necessitate a reduced dose of warfarin because they possess the VKORC1 genetic variation.
According to Fatumo, a geneticist at Queen Mary University of London, 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 treatment according to their personal requirements—instead of following the 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 focusing on medications such as warfarin.
However, up until now, precision medicine utilizing genetic information has predominantly 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.
Nondiverse genomic studies amount to 'self-inflicted harm' in the field of science.
Fatumo stated that science has inflicted "self-damage" by failing to accelerate diversity in genomic studies: "Many additional genetic variations remain unexplored within various populations. These could aid in discovering novel therapies and understanding why particular medications may have differing effects—beneficial or detrimental—on different individuals."
However, changes are underway. There are genetic analyses underway In Africa and Asia, along with Latin America, these projects frequently become integral parts of larger initiatives like the Nigerian 100K Genome Project.
Tarazona-Santos' team has embarked on a larger project, focusing on sequencing 60,000 Brazilian genomes sourced from various backgrounds.
Global genetics research is starting to yield promising results. As Fatumo explained to INSPIRATIONS DIGITAL, we now have medications that can reduce cholesterol levels and prevent heart attacks. The discovery of PCSK9 inhibitors was made possible due to certain individuals with African heritage who possessed genetic variations in their PCSK9 genes leading to reduced cholesterol levels. He further suggested that numerous additional therapies could potentially be uncovered through the examination of genomic data from populations worldwide.
Edited by: Zulfikar Abbany
Primary source:
The importance of expanding genomic research: Lessons from Andean highlanders and Amazonians as reported by Alvim et al. in the journal Cell (August 2024). http://dx.doi.org/10.1016/j.cell.2024.07.009
Author: Fred Schwaller
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