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\n <\/picture>He explains that the strategy adopted by Genomas SUS is to use short-read sequencing, which involves reading the genome from short sections of 150 base pairs, a more cost-effective method. With more complete sequencing to ensure context, the benefits are tangible. \u201cOf the 21,000 samples we already have, we will sequence 200 using long-read technology as a more accurate point of reference,\u201d says the researcher. Long-read sequencing uses larger sections containing hundreds of thousands of base pairs. In the effort to identify genes linked to diseases, it is essential to determine the ancestry of each section of the patient’s DNA. \u201cWe will then know what a certain piece of genetic material in a certain geographic location might say about a person\u2019s health.\u201d This is because with sequencing\u2014even the least precise form\u2014it is possible to identify the locations of altered variants on each chromosome and potentially link them to a propensity for diseases associated with them.<\/p>\n
To ensure the diversity born from interracial mixing is properly represented, Genomas SUS has nine anchor-centers across the country: two of them are in S\u00e3o Paulo and the others are in Rio de Janeiro, Minas Gerais, Paran\u00e1, Pernambuco, and Par\u00e1. \u201cThe Brazilian population has a large representation of peoples who mixed during the country\u2019s formation, including people of Indigenous and African ancestry,\u201d says geneticist \u00c2ndrea Ribeiro-dos-Santos, head of the only center in the North region, which is based at the Federal University of Par\u00e1 and opened in September 2024. \u201cIn the Amazon region, Indigenous women were often welcomed into quilombola communities because they knew the secrets and ways of living in the forest,\u201d he explains, based on research results from his group, which identified the sexual asymmetry in genetic contributions.<\/p>\n Just like the center in the Northeast, the Amazon region\u2019s center does not yet have its own sequencing device, so the DNA molecules it collects must be sent for analysis at other centers. So far, 1,800 samples have been sequenced, most of them from Par\u00e1. But this should change with the inclusion of other states in the region. \u201cTwo weeks ago we were on a health mission in Amap\u00e1, where we collected samples in partnership with the state and municipal health departments and the Federal University of Amap\u00e1.\u201d Agreements with institutions in Amazonas and Acre are under negotiation, seeking to comply with mandatory ethics issues. The challenges in the region are significant: it can take days to reach some traditional communities, with travel by plane and car followed by days on a boat. But it is in these remote locations that a unique wealth of the Brazilian territory is found: the genetic and cultural diversity of its human population.<\/p>\n Ribeiro-dos-Santos highlights the importance to the Brazilian national health system (SUS) of understanding regional or rare genetic variants so that it can implement treatment protocols for diseases such as diabetes and cancer. There is usually no single gene behind these diseases, but a multitude of pathways that can cause dysfunctions in cell replication, leading to cancer, or in metabolism in the case of diabetes, and any altered part can trigger the disease. A successful medication is one that acts on the root of the problem. \u201cWithout specific knowledge, the patient may die as a result of the treatment, or it may have no effect at all.\u201d<\/p>\n One example is an international study, in which Colli participated, that mapped areas of the genome linked to kidney cancer susceptibility, published in the scientific journal Nature Genetics <\/em>in 2024. \u201cIn previous phases of the study, Brazilian samples were not included out of fear that racial diversity would reduce the effectiveness of the association analysis,\u201d says the doctor. But the opposite turned out to be true: when a Brazilian cohort was included in the analyses, a previously unknown genetic variant was found, present in people of African descent.<\/p>\n When American geneticist Francis Collins, then director of the US National Institutes of Health (NIH), gave a lecture at FAPESP in 2014, geneticist Iscia Lopes-Cendes of the University of Campinas (UNICAMP) asked him about the idea of carrying out a population-wide genome project in Brazil. His response was that it was unnecessary, since human genetic diversity was already well described. \u201cHe was completely wrong. North Americans don\u2019t understand that other Latin populations are not the same as Mexicans,\u201d she laughs, not convinced by the answer. In 2015, Lopes-Cendes founded the Brazilian Initiative on Precision Medicine (BIPMed). \u201cIt is the first genome database in Latin America,\u201d she says.<\/p>\n \u201cWe have a partnership with the Genomas Angola (GENAN) project and we have already collected 750 samples,\u201d adds the researcher, who is supervising an Angolan doctoral student on the project. Lopes-Cendes hopes to find genetic variants that have not yet been described and could potentially have practical uses in both countries, which have ancestral links as a result of slaves brought over during the colonial period.<\/p>\n \u201cIf there is a place where precision healthcare can be made available to everyone, it is in Brazil,\u201d she says. \u201cWe have SUS.\u201d She refutes the notion that the technology would only be available to rich countries and people. On the contrary, she believes it can be an important tool for preventive medicine. \u201cPersonalized healthcare allows for more efficient treatments, at the right dosages, for the right people, with fewer side effects, and lower costs.\u201d<\/p>\n Together with geneticist Thais de Oliveira, a postdoctoral researcher at her lab, she published an opinion piece in the journal Annual Reviews of Genomics and Human Genetics<\/em> in January emphasizing the importance of public databases of genome information about Latin American populations. Argentine geneticist Rolando Gonz\u00e1lez-Jos\u00e9 of the Patagonian National Center (CENPAT), head of the Argentine Population Genome Reference and Biobank Program (POBLAR), agrees. \u201cIt is important for governments to make agreements on connecting genome databases in the region,\u201d he suggested in an email to Pesquisa FAPESP<\/em>. Like Colli, he says that short-read sequencing has benefits when it comes to optimizing available budgets.<\/p>\n<\/div>![](\"\/wp-content\/uploads\/2025\/11\/rpf-capa-genetica-siteo-1140.jpg\")
\n <\/picture>Luiz Braga<\/span>\nLuiz Braga<\/span>\u201cIt is important to know how we can use the genome to understand social inequalities and better diagnose complex genetic diseases,\u201d adds biologist Eduardo Tarazona of the Federal University of Minas Gerais (UFMG), head of the National Institute of Science and Technology – Genome Ancestry, Diseases, and Bioinformatics in Brazil (INCT-AncesGen) and one of the researchers leading Genomas SUS. \u201cThe less European a person is, the less scientists and geneticists know about their diseases.\u201d<\/p>\n![](\"\/wp-content\/uploads\/2025\/11\/rpf-capa-genetica-site-1200c.jpg\")
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