Scientists are gradually uncovering genetic variations in regions like Latin America, Africa, and Asia, aiming to enhance and broaden healthcare options through more inclusive medicine.
Hidden within minor genetic variations lie insights into why so many of us succumb to conditions such as cancer and how our bodies react to therapeutic interventions for these ailments.
We have 99.9% identical human DNA. — The order of genes, which contains the biological instructions for our survival and life, varies by just 0.1% among individuals. This slight difference in human DNA can explain variations in our health results.
A considerable 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 inequality within medical practices. —or a “gap in genomics”.
An inequity exists within the medical field, 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 affiliated with Universidade Federal de Minas Gerais in Brazil.
Tarazona-Santos has been striving to rectify this inequity by collecting information on genetic variations among two native communities in Latin America—one located in the Andean mountains and the other in the Amazonian plains.
Published in the journal Cell The research revealed that minor genetic variations led to differing reactions to drugs used for treating blood clots and high cholesterol.
The genetic variations were as significant as those found between Europeans and East Asians, even though these two populations lived merely 100 to 200 kilometers (60 to 125 miles) away from each other.
"Tarazona-Santos highlighted that our research underscores the importance of recognizing that ethnic groups often seen as homogenous, like the indigenous populations of the Americas, are indeed heterogeneous," he explained to CDRNEWS.
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—in comparing the genomes of Andean highlanders with those of Amazonian lowlanders.
"Importantly, these genetic variations play a crucial role since the ABCG2 variation affects how well simvastatin, which treats high cholesterol, works. Individuals with an unfavorable set of variants 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 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 individuals from the Andes region compared to 93% from the Amazon area 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 underscores 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.
Precision medicine has the potential to assist indigenous communities.
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, 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 system.
Tarazona-Santos suggested that this advancement could enhance therapy for kids suffering from leukemia and prevent negative reactions to medications, as well as improve 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: "Numerous additional genetic variations await discovery within various populations. These could aid in developing novel therapies and understanding why particular medications prove either advantageous or detrimental to specific individuals yet not to others."
However, changes are underway. There are genetic analyses underway In Africa and Asia, along with Latin America, these projects frequently form major initiatives like the Nigerian 100K Genome Project.
Tarazona-Santos' team has initiated efforts on an extensive dataset, with plans to sequence 60,000 Brazilian genomes originating from various backgrounds.
Emerging global genetics research is starting to yield promising results. "We now have medications that can reduce cholesterol levels and prevent heart attacks. The discovery of PCSK9 inhibitors was due to certain individuals with African heritage who possessed genetic variations in the PCSK9 gene, leading to reduced cholesterol levels," explained Fatumo to CDRNEWS, further noting 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 broadening genomic research: Lessons 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