Scientists are gradually gaining insights into genetic variations across regions like Latin America, Africa, and Asia, aiming to enhance and broaden healthcare options through these findings.

Hiding 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 order of genes, which contains the biological instructions for our survival and life, varies by just 0.1% in every individual. This small difference in human DNA can explain why our health results vary.

A significant amount of study is directed towards 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 involves participants solely of European ancestry. Consequently, these studies reflect no more than 20% of the global populace. This imbalance is resulting in what certain specialists deem as medical inequity.


—or a “gap in genomics”.

An inequity exists within the medical field,
particularly in genetics
“We have significantly more knowledge regarding the genetic foundation of diseases in individuals of European heritage—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 inequity by collecting information on genetic variations between two native groups in Latin America—one located in the Andean Highlands and the other in the Amazon Lowlands.

Published in the journal

Cell

The research revealed that minor genetic variations led to differing reactions to drugs used for treating blood clots and elevated cholesterol levels.

The genetic variations were as significant as those found between Europeans and East Asians, even though these two populations resided just 100 to 200 kilometers (60 to 125 miles) away from each other.

“Our research highlights the importance of recognizing that ethnic groups often perceived as homogenous, like the indigenous populations of the Americas, are indeed not uniform,” Tarazona-Santos stated to LIFEHACK.

Differences in genetics among native communities

Tarazona-Santos’ research group examined genetic information from 249 people belonging to 17 different indigenous communities. “Next, 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 inhabitants of the Andean Highlands and those from the Amazon Lowlands.

“Importantly, these genetic variations play a crucial role since the ABCG2 variation affects how well simvastatin—a medication for treating high cholesterol—works. Individuals who have an unfavorable set of variants might benefit more from using a different drug,” 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 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.

According to Fatumo, a geneticist at 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.

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 treatments according to personal requirements instead of following a traditional “one-size-fits-all” method.

Fatumo mentioned that it could enable us to provide far more tailored treatments to individuals according to their genetic makeup, similar to what this study demonstrated with 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 improve treatments involving antidepressants and certain heart conditions.

Nondiverse genomic research is akin to ‘self-sabotage’ in the scientific community.

Fatumo stated that science has inflicted “self-damage” by failing to accelerate diversity in genomic studies: “Numerous additional genetic variations await discovery within different populations. These could aid in uncovering novel therapies and explain why particular medications prove advantageous or detrimental to specific 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 projects 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.

Global genetics research is starting to yield promising results. As Fatumo explained to LIFEHACK, we now have medications that can reduce cholesterol levels and prevent heart attacks. The discovery of PCSK9 inhibitors was made possible after identifying genetic variations in the PCSK9 gene among certain individuals with African ancestry who exhibited lower cholesterol levels. Fatumo also noted that further investigation into the genomes of populations worldwide could reveal numerous additional therapies akin to these.

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