{"id":574931,"date":"2026-01-19T14:42:06","date_gmt":"2026-01-19T17:42:06","guid":{"rendered":"https:\/\/revistapesquisa.fapesp.br\/?p=574931"},"modified":"2026-01-19T15:15:17","modified_gmt":"2026-01-19T18:15:17","slug":"precision-for-all","status":"publish","type":"post","link":"https:\/\/revistapesquisa.fapesp.br\/en\/precision-for-all\/","title":{"rendered":"Precision for all"},"content":{"rendered":"

Precision medicine was born out of human genome sequencing and is not a luxury\u2014on the contrary, it enables more accurate diagnoses of some diseases and better and safer medication planning. It is good for the health care system, helping reduce wastage of resources on ineffective procedures, and it is good for patients, who receive the treatment that works best for them, with fewer side effects. However, Brazil suffers from a shortage of the biological parameters needed to know which genetic variants cause which diseases in the country because the sequences used as international references were mostly obtained from people of European descent in the Northern Hemisphere.<\/p>\n

The focus on local and regional diversity is not parochialism. Although most of the genome is common to all people, specific modifications can make a significant difference in how genes function, and if defective, they can cause diseases (see <\/em>Pesquisa FAPESP issue n\u00b0 330<\/em><\/a>). It is therefore crucial to understand the genetic composition of the Brazilian population, which is why the Department of Science and Technology (DECIT) at Brazil\u2019s Ministry of Health is now creating the National Genome and Precision Medicine Program: Genomas Brasil. In addition to examining Brazilian DNA (see report on page 12<\/em>), it encompasses other projects, including Genomas SUS, through which several universities are evaluating the impact of the genome on health.<\/p>\n

See more:<\/strong>
\n– European father, African or Indigenous mother<\/a><\/div>\n

Started in April 2024, the project aims to sequence the complete genomes of 21,000 Brazilians by November. The goal is to reach 80,000 genomes over the next three years, ensuring the ability to sample a high diversity of ancestries. Additionally, FAPESP has announced a call for proposals to fund the sequencing of an additional 15,000 samples. The aim is to select smaller projects from among scientists who are not currently participating in Genomas SUS. \u201cThe foundation will provide a counterpart to the national research,\u201d explains Dr. Leandro Machado Colli of the Ribeir\u00e3o Preto School of Medicine at the University of S\u00e3o Paulo (FMRP-USP), coordinator of the project. \u201cSamples can be collected anywhere in Brazil, as long as the researchers are based in S\u00e3o Paulo.\u201d<\/p>\n

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, determining the ancestry of each section of the patient’s DNA is essential. \u201cWe will then know what a certain piece of genetic material in a certain geographic location might say about a person\u2019s health.\u201d The reason is that with sequencing\u2014even the least precise form\u2014it is possible to identify the locations of altered variants on each chromosome and to potentially link them to a propensity for diseases associated with them.<\/p>\n

To ensure that 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; thus, the DNA molecules that it collects must be sent for analysis at other centers. To date, 1,800 samples have been sequenced, most of which are from Par\u00e1. However, 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. However, 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 the system 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 affects 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

\"\"Luiz 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

One example is an international study in which Colli participated. This study mapped areas of the genome linked to kidney cancer susceptibility and was published in the 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. However, the opposite turned out to be true: when a Brazilian cohort was included in the analyses, a previously unknown genetic variant was found that was 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 that could 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 health care 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 be available only to rich countries and people. On the contrary, she believes that it can be an important tool for preventive medicine. \u201cPersonalized health care 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 in regard to optimizing available budgets.<\/p>\n

The DNA do Brasil project, which is part of the Genomas Brasil Program, aims to contribute to precision health by providing a detailed overview of Brazilian genetic variation. The pharmaceutical industry could also benefit from these advances. In 2021, USP geneticist Lygia da Veiga Pereira, the founder of the project, used the knowledge that she acquired throughout her academic career to create a startup called gen-t, now funded by FAPESP’s Innovative Research in Small Businesses program (PIPE). \u201cWe are building a health, lifestyle, and multiomics data infrastructure with 200,000 genomes, which can be used by the industry to accelerate the search for new drugs,\u201d she explains.<\/p>\n

The initiative could complement potential implementations of new strategies by SUS. \u201cWe are just at the beginning of understanding the impact of genomics on population health,\u201d says Colli.<\/p>\n

Projects<\/strong>
\n1.<\/strong> Genetic susceptibility to kidney cancer (n\u00b0 20\/10960-5<\/a>); Grant Mechanism<\/strong> Young Investigator Award; Principal Investigator<\/strong> Leandro Machado Colli (USP); Investment<\/strong> R$5,170,035.66.
\n2.<\/strong> Proteogenomic evaluation of patients with kidney cancer treated with immunotherapy (n\u00b0 23\/01274-9<\/a>); Grant Mechanism<\/strong> Regular Research Grant; Principal Investigator<\/strong> Leandro Machado Colli (USP); Investment<\/strong> R$190,526.40.
\n3.<\/strong> Brazilian Institute of Neuroscience and Neurotechnology (BRAINN) (n\u00b0 13\/07559-3<\/a>); Grant Mechanism<\/strong> Research, Innovation, and Dissemination Centers (RIDC); Principal Investigator<\/strong> Fernando Cendes (UNICAMP); Investment<\/strong> R$53,958,474.98.
\n4.<\/strong> Development and implementation of data-mining modules for identifying pharmacological targets in the gen-t genome platform for the Brazilian population (n\u00b0 23\/11678-0<\/a>); Grant Mechanism<\/strong> Innovative Research in Small Businesses (PIPE); Principal Investigator<\/strong> Kelly Nunes (Divegen Gest\u00e3o e Tratamento de Dados Ltda.); Investment<\/strong> R$1,071,458.60.<\/p>\n

Scientific articles<\/strong>
\nPURDUE, M. P. et al.<\/em> Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions<\/a>. Nature Genetics<\/strong>. Vol. 56, pp. 809\u201318. May 2024.
\nLOPES-CENDES, I. & OLIVEIRA, T. C. de. Inequalities and Inclusion in Genomics Applied to Healthcare: A latin american perspective<\/a>. Annual Reviews of Genomics and Human Genetics<\/strong>. Vol. 26, no. 2, pp. 1\u20136. Jan. 20, 2025.<\/p>\n","protected":false},"excerpt":{"rendered":"Genome information about the Brazilian population could democratize access to personalized treatments and reduce national health care costs","protected":false},"author":3,"featured_media":574936,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[156,159],"tags":[209,237,247,260],"coauthors":[1601],"class_list":["post-574931","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cover","category-science","tag-biology","tag-genetics","tag-medicine","tag-public-health"],"acf":[],"_links":{"self":[{"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/posts\/574931","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/comments?post=574931"}],"version-history":[{"count":3,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/posts\/574931\/revisions"}],"predecessor-version":[{"id":576656,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/posts\/574931\/revisions\/576656"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/media\/574936"}],"wp:attachment":[{"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/media?parent=574931"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/categories?post=574931"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/tags?post=574931"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/revistapesquisa.fapesp.br\/en\/wp-json\/wp\/v2\/coauthors?post=574931"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}