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Genome Sequencing in the Country Maps Rare Genetic Diversity and Expands Capacity to Diagnose Diseases Accurately.
The complete sequencing of genomes in Brazil has already identified 8 million genetic variants that did not appear in other analyzed population databases thus far, according to data from the Genomes Brazil Program, from the Ministry of Health.
Among these changes, about 37 thousand were classified as possibly deleterious, with indications of association to diseases or unfavorable health conditions.
The advancement is attributed, in part, to the unique portrait of the Brazilian population, formed by centuries of miscegenation.
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In practice, this increases the chance of finding rare combinations of variants and ancestry patterns that are underrepresented in international studies, which have historically focused on European and North American samples.
At the same time, recent research with people who reached extreme ages has brought genetic diversity back to the center of debate.
A study linked to Genoma USP, published on January 6 in a scientific journal, analyzed cases of extreme longevity and raised the possibility that miscegenation contributes to biological resilience mechanisms observed in supercentenarians, a group that exceeds 110 years.
Complete DNA Sequencing and What It Reveals
The difference between complete sequencing and more limited tests lies in the scope.
In the so-called WGS, the reading traverses the DNA base by base, allowing the mapping of variations in regions that are typically excluded from tests focused solely on specific markers.
This level of detail is important because DNA functions as a set of instructions for the body.
Genes, which are segments of DNA, guide the production of proteins involved in essential tasks such as metabolism and immune response.
Still, not everything that is written manifests the same way in all people, as environmental and biological factors can influence when certain genes “turn on” or “turn off.”
Even with this panorama, the central message for public health is clear.
The larger and more representative the genome database of a population, the greater the capacity to interpret variants accurately.
This reduces dependence on foreign references and decreases the risk of classifying as “rare” or “suspected” a change that, in Brazil, may be relatively common and harmless.
Genomes Brazil Program and the Expansion of the Database
The Ministry of Health reported that the Genomes Brazil Program aims to reach 100 thousand genomes sequenced by the end of 2026.
In the balance disclosed by the ministry, 36 thousand had already been sequenced, and another 31 thousand were funded for research.
The first consolidated results, which underpin the identification of 8 million unprecedented variants, came from a reference study conducted in partnership with the University of São Paulo.
The publication was highlighted by the ministry itself when announcing that the work was published in the journal Science and that the first phase included the complete sequencing of over 2,700 Brazilians.
In addition to the national effort, a front in São Paulo aims to expand data production within the project.
In a call published by FAPESP, researchers in the state can submit proposals requesting sequencing of up to 2,000 samples per project, in the context of Genomas SUS, an initiative funded by the Ministry of Health with a forecast of sequencing 21 thousand genomes in the country.
Unprecedented Genetic Variants and Impact on Diagnosis
Finding millions of never-before-described variants does not mean, by itself, discovering millions of disease causes.
Most changes in DNA are neutral or have a small effect. The challenge becomes separating what is merely diversity from what may represent risk.
At this point, screening depends on technical criteria and specialized interpretation.
“The identification of the mutations to which we must pay more attention is based on criteria of pathogenicity,” said geneticist Guilherme Yamamoto, head of Genomic Innovation and Bioinformatics at Dasa, explaining how variants with a higher likelihood of causing diseases are prioritized among thousands per individual and millions in a population.
When this filtering is combined with clinical and population information, the impact tends to emerge in areas where diagnosis is difficult or time-consuming, such as rare diseases and some types of cancer.
Another consequence is more direct. Local banks help interpret results of Brazilian patients with less uncertainty because they increase the reference of what is “expected” within the population itself.
Genetics of Ischemic Stroke and Precision Medicine in SUS
One of the applications mentioned in the scope of the Genomes Brazil Program involves the study of genetic factors related to ischemic stroke, the most common type of stroke.
The proposal is to verify whether certain variants influence risk, clinical course, and treatment response, aiming to improve prevention and personalization of care.
In the Ártemis-Brasil project, conducted by centers distributed across the country, neurologist Ana Cláudia de Souza told Agência Brasil that mapping the genome could pave the way for more precise treatments by allowing assessment not only of individual risk but also of how the body responds to certain therapies.
The goal described in the report is to reach one thousand participants by the end of 2026, comparing people who have had ischemic stroke and a control group without a history of the disease.
The logic is to identify alterations that occur more frequently in patients and, from there, test how this information can guide care and prevention.
Supercentenarians in Brazil and Clues About Extreme Longevity
While clinical studies attempt to anticipate risks, research with supercentenarians follows another path.
Understanding how some people navigate decades with high biological resilience.
In the work published in January by researchers linked to Genoma USP, the analysis included over 160 centenarians and also participants over 110 years old, exploring the hypothesis that Brazilian genetic diversity may reveal protective variants that are rarely observed in more homogeneous populations.
The approach, still under development, does not start from a promise of a “longevity gene.” What researchers seek are clues together.
Patterns of immune response, combinations of variants, and genomic characteristics that, combined, may help explain aging with a lower disease burden or with a greater capacity for recovery, as indicated in the report of cases analyzed by the group.
With more Brazilian genomes entering public databases and projects connected to SUS, the expectation is that discoveries will translate into fewer late diagnoses, protocols more tailored to the local population, and more representative clinical research.
Somos X-men.
Resumo: somos VIRA-LATAS
Percebam que os povos originários e os africanos (africanos de verdade, não os afro-descendentes), não se misturam, casam entre eles, entre os próprios povos. Ambos mantêm o sangue puro.
Que bobagem essa história de “sangue puro”!
Seus antepassados eram neandertais.