Five years of the Genomas Brasil Program: advancing genomics and precision health within Brazil’s unified health system

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Abstract

This study aimed to assess the implementation of the Brazilian National Program for Genomics and Precision Public Health (GenBR) over its initial five years, identifying key achievements, challenges, and lessons for integrating genomics into public health systems in low- and middle-income countries (LMICs). Established by Ministerial Ordinance GM/MS No. 1,949 on August 4, 2020, GenBR aims to lay the foundation for genomics and precision health within Brazil’s Unified Health System. Its primary goals include advancing science and technology countrywide, fostering the development of a national genomics industry, and conducting proof-ofconcept studies to assess the practical application of precision health in public healthcare. By August 2025, over 250 research projects had been funded in 19 of the country’s 27 federative units, across a range of areas, including oncological, rare, cardiovascular, infectious, neurological, and non-communicable diseases, as well as population genomics and precision health. Financial investments had exceeded BRL 1 billion, funding the sequencing of 67,000 samples. Nine large-scale genomics research projects associated with the Program have contributed to generating whole-genome data from 45,910 individuals. Moreover, four public calls have selected 209 research projects led by science and technology institutions located across all regions of Brazil. GenBR offers key lessons for LMICs seeking to implement genomics in public health, particularly in contexts marked by population diversity, infrastructure asymmetries, and fiscal constraints. Findings highlight the importance of sustained political commitment, inclusive governance, and long-term planning for building national genomic capacity and advancing health equity.

About the authors

Giovanny Vinícius Araújo de França

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

Email: giovanny.franca@saude.gov.br
ORCID iD: 0000-0002-7530-2017
PhD, Technologist Federal District, Brazil, 70655-775

Evandro de Oliveira Lupatini

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0001-6231-891X
PhD, Technologist Federal District, Brazil, 70655-775

Rodrigo Theodoro Rocha

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0001-5624-8644
MSc, Technical Consultant Federal District, Brazil, 70655-775

Rafaela de Cesare Parmezan Toledo

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0009-0007-3393-6242
PhD, Technical Consultant Federal District, Brazil, 70655-775

Graziella Santana Feitosa Figueiredo

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0002-4416-0183
PhD, Technical Consultant Federal District, Brazil, 70655-775

Carlos Eduardo Ibaldo Gonçalves

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0009-0009-6616-7421
PhD, Technical Consultant Federal District, Brazil, 70655-775

Isis Laynne de Oliveira Machado

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0003-0051-9307
Federal District, Brazil, 70655-775

Ana Paula Anzolin

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0002-1080-1480
Federal District, Brazil, 70655-775

Carolina Carvalho Gontijo

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0002-8021-5081
Federal District, Brazil, 70655-775

Julia Freitas Daltro Vidal

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0009-0003-4742-9808
Federal District, Brazil, 70655-775

Andréa Leite Ribeiro Parmezan Toledo

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0003-4917-4469
Federal District, Brazil, 70655-775

Meiruze Sousa Freitas

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0009-0001-5788-5917
Federal District, Brazil, 70655-775

Fernanda De Negri

Department of Science and Technology, Secretariat for Science, Technology, and Innovation in Health, Ministry of Health, Brasília, Federal District, Brazil

ORCID iD: 0000-0002-3197-5156
Federal District, Brazil, 70655-775

References

  1. Vasconcelos AMN, Gomes MMF. Transição demográfica: a experiência brasileira [Demographic transition: the Brazilian experience]. (In Portuguese). Epidemiol Serv Saúde. 2012;21(4):539–548. doi: 10.5123/S1679-49742012000400003
  2. Cohen RV, Drager LF, Petry TBZ, Santos RD. Metabolic health in Brazil: trends and challenges. Lancet Diabetes Endocrinol. 2020;8(12):937–938. doi: 10.1016/S2213-8587(20)30370-3
  3. Nunes K, Araújo Castro E Silva M, Rodrigues MR, et al. Admixture’s impact on Brazilian population evolution and health. Science. 2025;388(6748):eadl3564. doi: 10.1126/science.adl3564
  4. Félix TM, Fischinger Moura de Souza C, Oliveira JB, et al. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. Int J Equity Health. 2023;22(1):11. doi: 10.1186/s12939-022-01809-y
  5. Pimentel FG, Buchweitz C, Campos RTO, Hallal PC, Massuda A, Kieling C. Realising the future: Health challenges and achievements in Brazil. SSM – Mental Health. 2023;4:100250. doi: 10.1016/j.ssmmh.2023.100250
  6. Castro E Silva MA, Ferraz T, Couto-Silva CM, et al. Population Histories and Genomic Diversity of South American Natives. Mol Biol Evol. 2022;39(1):msab339. doi: 10.1093/molbev/msab339
  7. Naslavsky MS, Scliar MO, Yamamoto GL, et al. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun. 2022;13(1):1004. doi: 10.1038/s41467-022-28648-3
  8. Hou K, Bhattacharya A, Mester R, Burch KS, Pasaniuc B. On powerful GWAS in admixed populations. Nat Genet. 2021;53(12):1631-1633. doi: 10.1038/s41588-021-00953-5
  9. Collins FS, Fink L. The Human Genome Project. Alcohol Health Res World. 1995;19(3):190–195.
  10. Turnbull C, Scott RH, Thomas E, et al. The 100000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018;361:k1687. doi: 10.1136/bmj.k1687
  11. Ramirez AH, Sulieman L, Schlueter DJ, et al. The All of Us Research Program: Data quality, utility, and diversity. Patterns (N Y). 2022;3(8):100570. doi: 10.1016/j.patter.2022.100570
  12. PFMG2025 contributors. PFMG2025-integrating genomic medicine into the national healthcare system in France. Lancet Reg Health Eur. 2025;50:101183. doi: 10.1016/j.lanepe.2024.101183
  13. Zayed H. The Qatar genome project: translation of whole-genome sequencing into clinical practice. Int J Clin Pract. 2016;70(10):832–834. doi: 10.1111/ijcp.12871
  14. Stark Z, Boughtwood T, Haas M, et al. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. Am J Hum Genet. 2023;110(3):419–426. doi: 10.1016/j.ajhg.2023.01.018
  15. Alrefaei AF, Hawsawi YM, Almaleki D, Alafif T, Alzahrani FA, Bakhrebah MA. Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program. Sci Rep. 2022;12(1):1405. doi: 10.1038/s41598-022-05296-7
  16. Li Z, Jiang X, Fang M, et al. CMDB: the comprehensive population genome variation database of China. Nucleic Acids Res. 2023;51(D1):D890–D895. doi: 10.1093/nar/gkac638
  17. Kurki MI, Karjalainen J, Palta P, et al. FinnGen provides genetic insights from a wellphenotyped isolated population. Nature. 2023;613(7944):508–518. doi: 10.1038/s41586-022-05473-8
  18. Jiwani T, Akinwumi A, Cheé-Santiago J, et al. Conceptualizing the public good for genomics in the global South: a cross-disciplinary roundtable dialogue. Front Genet. 2025;16:1523396. doi: 10.3389/fgene.2025.1523396
  19. Rocha CS, Secolin R, Rodrigues MR, Carvalho BS, Lopes-Cendes I. The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations. NPJ Genom Med. 2020;5:42. doi: 10.1038/s41525-020-00149-6
  20. Howley C, Haas MA, Al Muftah WA, et al. The expanding global genomics landscape: Converging priorities from national genomics programs. Am J Hum Genet. 2025;112(4):751–763. doi: 10.1016/j.ajhg.2025.02.008
  21. Ojewunmi OO, Fatumo S. Driving Global Health equity and precision medicine through African genomic data. Hum Mol Genet. 2025. doi: 10.1093/hmg/ddaf025
  22. Mills MC, Rahal C. The GWAS Diversity Monitor tracks diversity by disease in real time. Nat Genet. 2020;52(3):242–243. doi: 10.1038/s41588-020-0580-y
  23. Troubat L, Fettahoglu D, Henches L, Aschard H, Julienne H. Multi-trait GWAS for diverse ancestries: mapping the knowledge gap. BMC Genomics. 2024;25(1):375. doi: 10.1186/s12864-024-10293-3
  24. Gadelha CA, Maretto G, Nascimento MA, Kamia F. The health economic-industrial complex: production and innovation for universal health access, Brazil. Bull World Health Organ. 2024;102(5):352–356. doi: 10.2471/BLT.23.290838
  25. Gadelha CA. Desenvolvimento, complexo industrial da saúde e política industrial [Development, health-industrial complex and industrial policy]. (In Portuguese). Rev Saude Publica. 2006;40 Spec no.:11–23. doi: 10.1590/s0034-89102006000400003
  26. Borges S, Rodrigues F, Pires W, et al. PP19 Health Technology Assessment Reports In Brazilian Unified Health System: Number Of Potential Beneficiaries in 2022. International Journal of Technology Assessment in Health Care. 2023;39(Suppl 1):S57. doi: 10.1017/S0266462323001769
  27. Love-Koh J, Peel A, Rejon-Parrilla JC, et al. The Future of Precision Medicine: Potential Impacts for Health Technology Assessment. Pharmacoeconomics. 2018;36(12):1439–1451. doi: 10.1007/s40273-018-0686-6
  28. Borbón A, Briceño JC, Valderrama-Aguirre A. Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review. Pharmgenomics Pers Med. 2025;18:19–34. doi: 10.2147/PGPM.S490135
  29. Suarez-Kurtz G, Kovaleski G, Elias AB, et al. Implementation of a pharmacogenomic program in a Brazilian public institution. Pharmacogenomics. 2020;21(8):549–557. doi: 10.2217/pgs-2020-0016
  30. Sidone OJG, Haddad EA, Mena-Chalco JP. A Ciência nas Regiões Brasileiras: Evolução da Produção e das Redes de Colaboração Científica [Science in Brazilian regions: Development of scholarly production and research collaboration networks]. (In Portuguese). Transinformação. 2016;28(1):15–31. doi: 10.1590/2318-08892016002800002
  31. Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793–795. doi: 10.1056/NEJMp1500523
  32. Hartl D, de Luca V, Kostikova A, et al. Translational precision medicine: an industry perspective. J Transl Med. 2021;19(1):245. doi: 10.1186/s12967-021-02910-6
  33. Sachetti CG, Barbosa A Jr, de Carvalho ACC, Araujo DV, da Silva EN. Challenges and opportunities for access to Advanced Therapy Medicinal Products in Brazil. Cytotherapy. 2024;26(8):939–947. doi: 10.1016/j.jcyt.2024.03.492
  34. Morales Saute JA, Picanço-Castro V, de Freitas Lopes AC, et al. Clinical trials to gene therapy development and production in Brazil: a review. Lancet Reg Health Am. 2025;43:100995. doi: 10.1016/j.lana.2025.100995
  35. Albala C, Lebrão ML, León Díaz EM, et al. Encuesta Salud, Bienestar y Envejecimiento (SABE): metodología de la encuesta y perfil de la población estudiada [The Health, Well-Being, and Aging (“SABE”) survey: methodology applied and profile of the study population]. (In Spanish). Rev Panam Salud Publica. 2005;17(5–6):307–322. doi: 10.1590/s1020-49892005000500003
  36. Lima-Costa MF, Macinko J, Mambrini JV, et al. Genomic Ancestry, Self-Rated Health and Its Association with Mortality in an Admixed Population: 10 Year Follow-Up of the Bambui-Epigen (Brazil) Cohort Study of Ageing. PLoS One. 2015;10(12):e0144456. doi: 10.1371/journal.pone.0144456
  37. Confortin SC, Ribeiro MRC, Barros AJD, et al. RPS Brazilian Birth Cohorts Consortium (Ribeirão Preto, Pelotas and São Luís): history, objectives and methods. Cad Saude Publica. 2021;37(4):e00093320. doi: 10.1590/0102-311X00093320
  38. Borda V, Loesch DP, Guo B, et al. Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. Cell Genom. 2024;4(11):100692. doi: 10.1016/j.xgen.2024.100692
  39. Fatumo S, Yakubu A, Oyedele O, et al. Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project. Nat Genet. 2022;54(5):531–536. doi: 10.1038/s41588-022-01071-6
  40. Madden EB, Hindorff LA, Bonham VL, et al. Advancing genomics to improve health equity. Nat Genet. 2024;56(5):752–757. doi: 10.1038/s41588-024-01711-z
  41. Hu Y, Feng J, Gu T, et al. CAR T-cell therapies in China: rapid evolution and a bright future. Lancet Haematol. 2022;9(12):e930–e941. doi: 10.1016/S2352-3026(22)00291-5
  42. Doxzen KW, Adair JE, Fonseca Bazzo YM, et al. The translational gap for gene therapies in low- and middle-income countries. Sci Transl Med. 2024;16(746):eadn1902. doi: 10.1126/scitranslmed.adn1902

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