Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
  • Additional Information
    • Source:
      Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
    • Publication Information:
      Original Publication: Basel : MDPI
    • Subject Terms:
    • Abstract:
      Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented.
    • References:
      Mol Genet Genomic Med. 2014 Jul;2(4):280-91. (PMID: 25077170)
      Cien Saude Colet. 2021 Jun 14;26(suppl 1):2529-2541. (PMID: 34133632)
      Orphanet J Rare Dis. 2023 Aug 31;18(1):259. (PMID: 37653461)
      Epidemiol Serv Saude. 2021 Apr 16;30(1):e2020835. (PMID: 33886939)
      Plast Surg Int. 2013;2013:641570. (PMID: 23577250)
      Genet Mol Biol. 2019;42(1 suppl 1):305-311. (PMID: 31170279)
      Salud Colect. 2020 Apr 05;16:e2210. (PMID: 32574450)
      Front Mol Biosci. 2022 May 02;9:821582. (PMID: 35586190)
      Genet Mol Biol. 2019;42(1 suppl 1):155-164. (PMID: 31188934)
      Int J Equity Health. 2023 Jan 13;22(1):11. (PMID: 36639662)
      Public Health Genomics. 2023;26(1):145-158. (PMID: 37356424)
      Orphanet J Rare Dis. 2022 Feb 24;17(1):84. (PMID: 35209917)
      Lancet. 2020 Oct 17;396(10258):1204-1222. (PMID: 33069326)
      Per Med. 2022 Nov;19(6):549-563. (PMID: 36317557)
      J Community Genet. 2013 Jul;4(3):355-75. (PMID: 22565417)
      Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):912-927. (PMID: 33166033)
    • Grant Information:
      443030/2019-7 and 311420/2023-0 National Council for Scientific and Technological Development
    • Contributed Indexing:
      Keywords: Brazil; genetic; medical genetics; public health policies; rare disease
    • Publication Date:
      Date Created: 20240829 Date Completed: 20240829 Latest Revision: 20240903
    • Publication Date:
      20240903
    • Accession Number:
      PMC11353425
    • Accession Number:
      10.3390/genes15080973
    • Accession Number:
      39202336