From emergence to extinction: the trajectory of an outpatient medical genetics service in Brazil
DOI:
https://doi.org/10.13037/ras.vol19n68.7679Keywords:
Medical Genetics, Genetic Counseling, Rare Diseases, Referral and Consultation, Health Services Research, Brazilian Unified National Health SystemAbstract
Introduction: The number of health professionals involved in specialized care in genetics is considered insufficient in Brazil, and it is assumed that most patients and families do not receive adequate care. Also, the availability of human and material resources for care in genetics is very uneven in various regions of the country. Objectives: To describe the trajectory of an outpatient medical genetics service in Brazil and to highlight the importance of organizing the medical genetic care network in this country. Methodology: Quantitative, cross-sectional, and retrospective study, in which the care maps of all 792 patients evaluated at Medical Genetics Outpatient Clinic in São Carlos, São Paulo, from June 2006 to December 2018 were reviewed. Results: There was a great diversity of genetic diseases, which affect people in different age groups. A genetic diagnosis was defined in 290 patients (36.6%) and ruled out in 153 patients (19.3%); 23 patients (2.9%) received genetic counseling for future offspring and in 326 patients (41.2%) a genetic diagnosis was neither defined nor ruled out. The frequency of unresolved cases explains difficulties inherent to clinic genetic diagnosis and barriers to access molecular genetic tests. Conclusion: Experiences such as Medical Genetics Outpatient Clinic in São Carlos show the obstacles to providing adequate health services to the population in genetics, reinforcing the need to organize the genetic care network in the Brazilian Unified Health System, based on the National Policy for Comprehensive Care for People with Rare Diseases.
Downloads
References
Jorde LB, Carey JC, Bamshad MJ (org). Conceitos e história: o impacto clínico das doenças genéticas. In: Genética Médica. 5a ed. Rio de Janeiro: GEN Guanabara Koogan; 2017. p.1-5.
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020; 28(2):165-173.
Melo DG, Germano CMR, Porciúncula CGG, Paiva IS, Neri JICF, Avó LRS, Demarzo MMP, Galera FM. Qualificação e provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS). Interface (Botucatu). 2017; 21(suppl.1):1205-16.
Scheffer M (coord). Demografia Médica no Brasil 2020. São Paulo: Departamento de Medicina Preventiva da Faculdade de Medicina da USP; Conselho Federal de Medicina; 2020. 312 p. Disponível em: https://www.fm.usp.br/fmusp/conteudo/DemografiaMedica2020_9DEZ.pdf. Acesso em: 15 fev. 2021.
Passos-Bueno MR, Bertola D, Horovitz DD, de Faria Ferraz VE, Brito LA. Genetics and genomics in Brazil: a promising future. Mol Genet Genomic Med. 2014; 2(4):280-91.
Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Publica. 2011; 29(1):61-8.
Horovitz DD, de Faria Ferraz VE, Dain S, Marques-de-Faria AP. Genetic services and testing in Brazil. J Community Genet. 2013; 4(3):355-75.
Brasil, Ministério da Saúde, Gabinete do Ministro. Portaria No 81, de 20 de janeiro de 2009. Institui, no âmbito do SUS, a Política Nacional de Atenção Integral em Genética Clínica. Diário Oficial da União da República Federativa do Brasil, Brasília, 21 de janeiro de 2009. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2009/prt0081_20_01_2009.html. Acesso em: 15 fev. 2021.
Brasil, Ministério da Saúde, Gabinete do Ministro. Portaria No 199, de 30 janeiro 2014. Institui a Política Nacional de Atenção Integral às Pessoas com Doenças Raras, aprova as Diretrizes para Atenção Integral às Pessoas com Doenças Raras no âmbito do Sistema Único de Saúde (SUS) e institui incentivos financeiros de custeio. Diário Oficial da União da República Federativa do Brasil, Brasília, 12 de fevereiro de 2014. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2014/prt0199_30_01_2014.html. Acesso em: 15 fev. 2021.
Iriart JAB, Nucci MF, Muniz TP, Viana GB, Aureliano WA, Gibbon S. From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil. Cien Saude Colet. 2019; 24(10):3637-50.
SBGM, Sociedade Brasileira de Genética Médica e Genômica. [Internet]. Disponível em: https://www.sbgm.org.br. Acesso em: 15 fev. 2021.
Melo DG, Lessa ACO, Teixeira-Filho JL, Nhoncanse GC, Drizlionoks E, Klein C, Barbosa CAA. Perfil clínico-epidemiológico da genética médica no Sistema Único de Saúde: análise do município de São Carlos, SP. Boletim Epidemiológico Paulista. 2010; 7(75):4-15.
Brasil, Instituto Brasileiro de Geografia e Estatística (IBGE). IBGE Cidades. [Internet]. Disponível em: http://www.cidades.ibge.gov.br/. Acesso em: 15 fev. 2021.
Melo DG, Paula PK, Rodrigues SA, Avó LRS, Germano CMR, Demarzo MMP. Genetics in primary healthcare and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. Journal of Community Genetics. 2015; 6(3):231-40.
Melo DG, Silva AA, Husny ASE, Ferraz VEF. Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica. Revista Brasileira de Educação Médica. 2019; 43(Suppl. 1):440-50.
Vieira DKR, Horovitz DDG, Llerena Jr JC. Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família. Revista Brasileira de Medicina de Família e Comunidade. 2012; 7(24):196-203.
Santos CS, Kishi RGB, Costa DLG, Silva DSD, Narciso TRF, Avó LRS, Germano CMR, Sandes KA, Acosta AX, Melo DG. Identificação de doenças genéticas na Atenção Primária à Saúde: experiência de um município de porte médio no Brasil. Rev Bras Med Fam Comunidade. 2020; 15(42):2347.
Tavares DF, Bueno LSM, Teixeira TRG, Cardoso-Jr LM, Varrone GR. A Utilização de Telemedicina para o Aconselhamento Genético em Oncologia. Rev. Bras. Cancerol. 2020; 66(1):20200129.
São Carlos. Diário Oficial do Município. Publicado em 07 de abril de 2011. Disponível em: http://www.saocarlos.sp.gov.br/images/stories/diario_oficial_2011/DO_070411_certificado.pdf. Acesso em: 15 fev. 2021.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019; 21(11):2413-2421.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. Eur J Med Genet. 2012; 55(11):660-5.
Sabbag ARC, Rocha BG, Avó LRS, Germano CRM. Matheucci-Jr E, Melo DG. Identifying Microdeletion Syndromes in Patients with Intellectual Disability Using Molecular Genetic Testing: An Example for the Brazilian Public Health Care System. American Journal of Public Health Research. 2013; 1(4):86-92.
Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, de Medeiros PF, Minillo RM, Melo DG, Kim CA, Doriqui MJ, Felix TM, Fock RA, Cavalcanti DP. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. Eur J Med Res. 2016; 21(1):33.
Wofford S, Noblin S, Davis JM, Farach LS, Hashmi SS, Mancias P, Wagner VF. Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists with Regard to Childhood-Onset Neurogenetic Conditions. J Child Neurol. 2019; 34(4):177-183.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014; 24(2):97-116.
Kültürsay N, Aşkar N, Terek D, Yeniel AÖ, Altun Köroğlu Ö, Yalaz M, Özkınay F, Akısü M. The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged. Balkan Med J. 2017; 34(6):553-558.
Cebes, Centro Brasileiro de Estudos de Saúde. A gestão municipal e a garantia do direito à saúde. Saúde debate. 2012; 36(95):506-11.
São Carlos. Diário Oficial do Município. Publicado em 10 de outubro de 2019. Disponível em: http://www.saocarlos.sp.gov.br/images/stories/diario_oficial_2019/DO_10102019_1454.pdf. Acesso em: 15 fev. 2021.
Souza MGF, Azevedo ES. Servicios de genética en las comunidades del Estado de Bahia, Brasil. Bol Oficina Sanit Panam 1993; 115(1):19-23.
Albano LM. Importância da genética no serviço público: relato da extinção de um setor de genética no Município de São Paulo, Brasil. Rev Panam Salud Publica. 2000; 7(1):29-34.
Downloads
Published
Issue
Section
License
Copyright (c) 2021 Tatiane de Abreu, Érica Letícia Angelo Liberato, Heloisa Pastana Marsiglio, Thamires Rosa dos Santos, Natália Santander Ortensi, Calógeras Antônio de Albergaria Barbosa, Débora Gusmão Melo
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Policy Proposal for Journals offering Free Delayed Access
Authors who publish in this magazine agree to the following terms:
- Authors maintain the copyright and grant the journal the right to the first publication, with the work simultaneously licensed under a Creative Commons Attribution License after publication, allowing the sharing of the work with recognition of the authorship of the work and initial publication in this journal.
- Authors are authorized to assume additional contracts separately, for non-exclusive distribution of the version of the work published in this magazine (eg, publishing in institutional repository or as a book chapter), with the acknowledgment of the authorship and initial publication in this journal.
- Authors are allowed and encouraged to publish and distribute their work online (eg in institutional repositories or on their personal page) at any point before or during the editorial process, as this can generate productive changes, as well as increase impact and citation of the published work (See The Effect of Open Access).
