Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS)

Débora Gusmão Melo Carla Maria Ramos Germano Carlos Guilherme Gaelzer Porciúncula Isaias Soares de Paiva João Ivanildo da Costa Ferreira Neri Lucimar Retto da Silva de Avó Marcelo Marcos Piva Demarzo Marcial Francis Galera About the authors

Abstract

This theoretical essay reflects on the qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the SUS. To carry out this analysis, we introduce the Policy and its guidelines, with a focus on discussion of two integrated strategies: the provision and settlement of geneticist physicians; and training of primary care professionals with regard to genetic diseases and congenital defects. Finally, in view of the Brazilian National Curriculum Guidelines for undergraduate medical courses, we suggest a profile of minimum competencies required in Genetics, developed in order to provide resources to undergraduate courses in Health, in particular, medical courses. We provide a theoretical reference to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS.

Rare diseases; Public policy; Medical Genetics; Education in Health; Clinical competence


Introduction

Medical Genetics deals with rare diseases, which altogether make up a significantly large group with a prevalence of 31.5 to 73.0 per 1,000 individuals11. Jorde LB, Carey JC, Bamshad MJ, organizadores. Conceitos e história: o impacto clínico das doenças genéticas. In: Genética médica. 5 ed. Rio de Janeiro: Elsevier; 2017. p. 1-5.. The incidence of genetic diseases and congenital defects in Brazil is no different from that found in other parts of the world; about 3% to 5% of Brazilian newborns have congenital defects that are totally or partially determined by genetic factors22. Leite JCL, Comunello LN, Giugliani R. Tópicos em defeitos congênitos. Porto Alegre: Ed. da UFRGS; 2002..

As health indicators improve, genetic diseases and congenital defects account for a larger proportion of deaths among children33. Marques-de-Faria AP, Ferraz VE, Acosta AX, Brunoni D. Clinical genetics in developing countries: the case of Brazil. Community Genet. 2004; 7(2-3):95-105.

4. Horovitz DDG, Llerena Jr. JC, Mattos RA. Atenção aos defeitos congênitos no Brasil: panorama atual. Cad Saúde Pública. 2005; 21(4): 1055-64.
-55. 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.. The impact of congenital defects is particularly noticed when child mortality rates reach figures below 40 per 1,00066. March of Dimes Birth Defects Foundation, World Health Organization. Management of birth defects and haemoglobin disorders: report of a joint WHO-March of Dimes Meeting [Internet]. 2006. 31 p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/genomics/publications/WHO-MODreport-final.pdf
http://www.who.int/genomics/publications...
. That is what has happened in Brazil, where these diseases, recorded in Chapter 17 of the International Classification of Diseases (“Congenital malformations, deformations and chromosomal abnormalities”), have been the Number 2 cause of child mortality in all regions of the country since 200577. Departamento de Informática do SUS. Sistema de informações de Saúde. Estatísticas vitais – mortalidade e nascidos vivos [Internet]. 1996-2015 [citado 30 Jun 2017]. Disponível em: http://www.datasus.gov.br.
http://www.datasus.gov.br...
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Since 1998, the World Health Organization (WHO) has constantly reminded developing countries of the need to begin activities of promotion and protection of Health in the field of primarily genetic diseases and congenital defects88. Penchaszadeh VB. Medical Genetic Services in Latin America: Report of a WHO Collaborating Centre for Community Genetics and Education. Geneva: WHO Press; 1998.

9. World Health Organization. Primary Health Care Approaches for Prevention and Control of Congenital and Genetic Disorders: Report of a WHO meeting. Geneva: WHO Press; 2000.

10. World Health Organization. Community genetic services in Latin America and regional networks on medical genetics: Report of a WHO consultation. Geneva: WHO Press; 2004.
-1111. World Health Organization. Community genetics services: report of a WHO consultation on community genetics in low- and middle-income countries. Geneva: WHO Press; 2010.. In this context, in January 2014 the Brazilian Ministry of Health implemented the National Policy on Comprehensive Care of People with Rare Diseases (PNAIPDR) in the SUS1212. Ministério da Saúde (BR). Gabinete do Ministro. Portaria no 199, de 30 de janeiro de 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. 12 Fev 2014 [citado 30 Jun 2017]. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2014/prt0199_30_01_2014.html
http://bvsms.saude.gov.br/bvs/saudelegis...
, ensuring health care services for a wide range of rare genetic diseases that are usually chronic, progressive, degenerative, and often present a death risk1313. ORPHANET - Portal de Doenças Raras e Medicamentos Órfãos [Internet]. [citado 30 Jun 2017]. Disponível em: http://www.orpha.net
http://www.orpha.net...
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This paper is a theoretical essay that reflects on the qualification and provision of physicians in the context of PNAIPDR. In order to carry out this analysis, we will first introduce the Policy and its guidelines, and then we will focus the discussion on two integrated strategies: the provision and settlement of geneticist physicians; and training of primary care professionals with regard to genetic diseases and congenital defects. Finally, in view of the Brazilian National Curriculum Guidelines for undergraduate medical courses, published in 20141414. Câmara de Educação Superior (BR). Portaria no 3, de 20 de junho de 2014. Institui as Diretrizes Curriculares Nacionais do Curso de Graduação em Medicina e dá outras providências. Diário Oficial da União. 23 Jun 2014. [citado 30 Jun 2017]. Disponível em: http://pesquisa.in.gov.br/imprensa/jsp/visualiza/index.jsp?data=23/06/2014&jornal=1&pagina=8&totalArquivos=64
http://pesquisa.in.gov.br/imprensa/jsp/v...
, we will suggest a profile of minimum competencies required in Genetics, developed by the Teaching Commission of the Brazilian Society of Medical Genetics to provide resources to undergraduate courses in Health, in particular, medical courses.

We provide a theoretical reference, based on competence, to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS.

The National Policy on Comprehensive Care of People with Rare Diseases: the historical perspective and guidelines

Conceptually, a disease is considered rare when its prevalence is equal to or lower than 50 to 65 per 1000,000 individuals1515. Vrueh R, Baekelandt ERF, Haan JMH. Priority diseases and reasons for inclusion. Background Paper 6.19 - Rare Diseases. [Internet]. 2013. 46p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf?ua=1
http://www.who.int/medicines/areas/prior...
,1616. Warren Kaplan W, Laing R, organizadores. Orphan diseases. In: Priority medicines for Europe and the world. Geneva: WHO Press; 2004. p. 95-8.(ii In the context of PNAIPDR, a disease is considered rare if it affects up to 65 people per 100,000, that is, 1.3 per 2,000 individuals.). There are about five to eight rare diseases1515. Vrueh R, Baekelandt ERF, Haan JMH. Priority diseases and reasons for inclusion. Background Paper 6.19 - Rare Diseases. [Internet]. 2013. 46p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf?ua=1
http://www.who.int/medicines/areas/prior...
,1717. Institute of Medicine (US). Committee on Accelerating Rare Diseases Research and Orphan Product Development, Field MJ, Boat TF, editores. Rare diseases and orphan products: accelerating research and development [Internet]. Washington (DC): National Academies Press; 2010 [citado 30 Jun 2017]. Disponível em: http://www.ncbi.nlm.nih.gov/books/NBK56184/
http://www.ncbi.nlm.nih.gov/books/NBK561...
and, in Brazil, it is estimated that 13 million people have a rare disease1818. Associação da Indústria Farmacêutica de Pesquisa. Doenças raras: contribuições para uma Política Nacional. [Internet]. São Paulo: Ativaonline Editora e Serviços Gráficos; 2013. 28p. [citado 30 Jun 2017] Disponível em: http://www.sbmf.org.br/_pdf/biblioteca/14/doencas_raras_2013.pdf
http://www.sbmf.org.br/_pdf/biblioteca/1...
. Nearly 80% of rare diseases have a genetic etiology; the remaining 20% include immune diseases, some types of cancer, and uncommon infectious diseases1515. Vrueh R, Baekelandt ERF, Haan JMH. Priority diseases and reasons for inclusion. Background Paper 6.19 - Rare Diseases. [Internet]. 2013. 46p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf?ua=1
http://www.who.int/medicines/areas/prior...
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About 50% of rare diseases affect children1313. ORPHANET - Portal de Doenças Raras e Medicamentos Órfãos [Internet]. [citado 30 Jun 2017]. Disponível em: http://www.orpha.net
http://www.orpha.net...
and 30% of patients die before the age of five1515. Vrueh R, Baekelandt ERF, Haan JMH. Priority diseases and reasons for inclusion. Background Paper 6.19 - Rare Diseases. [Internet]. 2013. 46p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf?ua=1
http://www.who.int/medicines/areas/prior...
. In Brazil, surveys carried out by patient associations indicate difficulties in diagnosing such diseases, with patients seeing several physicians, sometimes for decades (Brazilian Alliance of Genetics, personal communication). Although there is not a specific treatment for most rare genetic diseases, the implementation of adequate care services can improve quality of life and increase life expectancy of patients, besides providing family genetic guidance1515. Vrueh R, Baekelandt ERF, Haan JMH. Priority diseases and reasons for inclusion. Background Paper 6.19 - Rare Diseases. [Internet]. 2013. 46p. [citado 30 Jun 2017]. Disponível em: http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf?ua=1
http://www.who.int/medicines/areas/prior...
,1717. Institute of Medicine (US). Committee on Accelerating Rare Diseases Research and Orphan Product Development, Field MJ, Boat TF, editores. Rare diseases and orphan products: accelerating research and development [Internet]. Washington (DC): National Academies Press; 2010 [citado 30 Jun 2017]. Disponível em: http://www.ncbi.nlm.nih.gov/books/NBK56184/
http://www.ncbi.nlm.nih.gov/books/NBK561...
.

Formal discussion of the implementation of a public health policy for Genetics began in Brazil in October 2004, with the creation of the Clinical Genetics Work Group1919. Ministério da Saúde (BR). Gabinete do Ministro. Portaria no 2.380, de 28 de outubro de 2004. Institui o Grupo de Trabalho de Genética Clínica, e dá outras providências. Diário Oficial da União. 29 Out 2004 [citado 30 Jun 2017]. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2004/prt2380_28_10_2004.html
http://bvsms.saude.gov.br/bvs/saudelegis...
, which was composed of specialists in medical genetics and technicians from the Ministry of Health. The work of this group resulted in the publication of the National Policy on Comprehensive Care in Clinical Genetics in SUS in 2009, and its objective was to build a local, tiered service network that granted access to comprehensive care in Genetics2020. Ministério da Saúde (BR). Gabinete do Ministro. Portaria no 81, de 20 de janeiro de 2009. Institui, no âmbito do Sistema Único de Saúde (SUS), a Política Nacional de Atenção Integral em Genética Clínica. Diário Oficial da União. 21 Jan 2009 [citado 30 Jun 2017]. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2009/prt0081_20_01_2009.html
http://bvsms.saude.gov.br/bvs/saudelegis...
. As is often the case, some aspects had to be regulated and this policy was actually never implemented.

The Policy approved in 2014 was the result of work carried out by another group, created in 2012 by the Department of Specialized and Thematic Care/Coordination of Medium and High Complexity, with representatives of civil society, specialists in medical genetics and technicians from the Ministry of Health2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
http://conitec.gov.br/images/Protocolos/...
. To include all known rare diseases, it was decided to classify diseases in PNAIPDR according to their nature, as being genetic or non-genetic. Therefore, two classifications of rare diseases were designated. The first included three groups of genetic diseases: (1) congenital abnormalities or those with late onset, (2) intellectual impairment, and (3) inborn errors of metabolism. The second includes rare non-genetic diseases1212. Ministério da Saúde (BR). Gabinete do Ministro. Portaria no 199, de 30 de janeiro de 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. 12 Fev 2014 [citado 30 Jun 2017]. Disponível em: http://bvsms.saude.gov.br/bvs/saudelegis/gm/2014/prt0199_30_01_2014.html
http://bvsms.saude.gov.br/bvs/saudelegis...
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According to the PNAIPDR guidelines, care services must be structured according to a systemic logic, focused on the acknowledgment of the needs of patients and dynamic and continuous care to meet those needs. The SUS must then ensure comprehensive care, organized at all levels, from prevention, embracement, diagnosis, treatment (ensuring access to available technologies and genetic counseling) support and help, to resolution, follow-up and rehabilitation2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
http://conitec.gov.br/images/Protocolos/...
. This policy includes specific functions for primary health care (PHC) and for outpatient and hospital specialized care, and also includes implementation of “specialized care services for rare diseases” and “reference services for rare diseases”2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
http://conitec.gov.br/images/Protocolos/...
. For PHC, nine specific assignments were defined that included mapping of people who have congenital abnormalities and/or genetic diseases, or are at risk of having them, for regulated referral; promotion of education in health with the aim of prevention; providing clinical follow-up after diagnosis; genetic counseling (counter-referral); and home care in specific cases2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
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. Specialized care services and reference services are responsible for diagnosis, and therapeutic and preventive actions, for people who have rare diseases or at risk of developing them, which includes specialized clinical multidisciplinary monitoring and non-directive and non-coercive genetic counseling2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
http://conitec.gov.br/images/Protocolos/...
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About genetic counseling in PNAIPDR

Genetic counseling is defined as a communication process that deals with human problems associated with the occurrence or recurrence of a genetic disease in a given family. This process involves the attempt, by one or more people who are properly trained, to help individuals or their families: (1) understand medical facts, including diagnosis, the most likely course of the disease (prognosis), and measures (treatments) available; (2) analyze how heredity contributes to the disease and the risk of recurrence in specific members of the family; (3) understand the options available in the case of recurrence, with regard to the family’s reproductive life; (4) choose the most suitable actions, considering the risks and objectives of the families, and act accordingly; and (5) adapt in the best possible way to relatives’ disease and/or to the risk of recurrence2222. Fraser FC. Genetic counseling. Am J Hum Genet. 1974; 26(5):636-61..

The Policy recommends that genetic counseling be offered to individuals and families with rare genetic diseases, or those are at risk of developing them, with assistance and education as a primary goal, allowing them to understand all aspects of the disease, from its etiology, evolution, and prognosis to decision-making concerning reproductive rights2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
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The guidelines for the Policy also state that genetic counseling must be performed by a qualified multiprofessional team, including a geneticist physician and/or a qualified health professional who has a undergraduate degree, a master’s degree or PhD in Human Genetics or specialized in Human Molecular Biology or Human Cytogenetics, awarded by the Brazilian Society of Genetics, or a specialist degree in Genetics awarded by the Federal Council of Biology, and proof of an 800-hour minimum of professional experience or internship in genetic counseling2121. Ministério da Saúde (BR). Secretaria de Atenção à Saúde. Departamento de Atenção Especializada e Temática. Coordenação Geral de Média e Alta Complexidade. Diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde [Internet]. Brasília; p.41. 2014 [citado 30 Jun 2017]. Disponível em: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf
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In European countries, the United States, Australia, and Canada, where genetics are more rooted in healthcare practice, there is an occupation called “genetic counselor,” which usually corresponds to a professional with a degree in a life sciences field (more frequently Medicine, Nursing or Psychology) and with specialized training, typically a master’s degree, that includes knowledge of Clinical Genetics, Population Genetics, Cytogenetics, and Molecular Biology, as well as skills related to Psychology and communication skills2323. Cordier C, Lambert D, Voelckel MA, Hosterey-Ugander U, Skirton H. A profile of the genetic counsellor and genetic nurse profession in European countries. J Community Genet. 2012; 3(1):19-24.,2424. Organização Mundial de Saúde. Genetic counselling services [Internet]. [citado 30 Jun 2017]. Disponível em: http://www.who.int/genomics/professionals/counselling/en/
http://www.who.int/genomics/professional...
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Although the PNAIPDR is aware of the need for genetic counseling in comprehensive care of individuals and families with rare genetic diseases, the occupation of genetic counselor not yet been regulated in Brazil. Currently, the Brazilian federal agency for Coordination for the Improvement of Higher Education Personnel (CAPES) recognizes 36 graduate programs in Genetics, 17 of which are PhD’s, 16 master's degrees, and three vocational master’s degrees2525. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior [Internet]. [citado 30 Jun 2017]. Disponível em: http://www.capes.gov.br/
http://www.capes.gov.br/...
. Most of these programs have researchers with experience in Human Genetics and/or Medicine, and they are responsible for training professionals in the healthcare and life sciences. There is only one vocational master's degree specialized in genetic counseling; it is offered by the Institute of Biosciences of the University of São Paulo, and it has been in place since 20152525. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior [Internet]. [citado 30 Jun 2017]. Disponível em: http://www.capes.gov.br/
http://www.capes.gov.br/...
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Medical Genetics in Health Care in Brazil and new training needs in view of PNAIPDR

In Brazil, Medical Genetics was recognized as a medical specialty by the Federal Council of Medicine in 1983. In the search for its consolidation, the Brazilian Society of Clinical Genetics was founded in 1986; it was renamed the Brazilian Society of Medical Genetics (SBGM) in 20062626. Sociedade Brasileira de Genética Médica. [Internet]. [acesso em 30 Jun 2017]. Disponível em: http://www.sbgm.org.br/
http://www.sbgm.org.br/...
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Services in Medical Genetics began to develop in the country in the 1960s and 1970s, often related to undergraduate courses in Human and/or Medical Genetics, with greater interest in research on specific diseases or groups of diseases. During the 1970s and 1980s, services with greater care capacity were implemented, in association with hospitals and/or public universities2727. Brunoni D. Aconselhamento genético. Ciênc Saúde Colet. 2002; 7(1): 101-7.. Records made by SBGM in 2000 reported the existence of 64 care services in Medical Genetics: 37 (58%) in the Southeast (75.7% in the state of São Paulo), 17 (26%) in the South, 7 (11 %) in the Northeast, and 3 (5%) in the Center-West. At that time, no service was found in the North. The types of service offered varied greatly; some were very comprehensive (clinical consultation, laboratories and research), whereas others only offered genetic counseling33. Marques-de-Faria AP, Ferraz VE, Acosta AX, Brunoni D. Clinical genetics in developing countries: the case of Brazil. Community Genet. 2004; 7(2-3):95-105..

The number of services and human resources involved in Medical Genetics in Brazil is considered insufficient to meet the demand. It is estimated that most patients and families who die from genetic diseases are not provided with proper care2828. Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Publica. 2011; 29(1):61-8.,2929. Melo DG, Sequeiros J. The challenges of incorporating genetic testing in the Unified National Health System in Brazil. Genet Test Mol Biomarkers. 2012; 16(7):651-5.. Data from the survey Brazilian Medical Demography, carried out by the Federal Council of Medicine3030. Scheffer M, Biancarelli A, Cassenote A. Demografia médica no Brasil 2015. [Internet]. São Paulo: Universidade de São Paulo; Conselho Regional de Medicina do Estado de São Paulo; Conselho Federal de Medicina; 2015. 285p. [citado 30 Jun 2017]. Disponível em: http://www.usp.br/agen/wp-content/uploads/DemografiaMedica30nov20153.pdf
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and published in November 2015, report the existence of 241 physicians specialized in Genetics(j) distributed unevenly in the territory (Fig. 1). The geographical distribution of genetics professionals and services is related to population density and the human development index of the regions, and in poorer and less populated areas (particularly the North and Northeast) there is a greater need for professionals.

Figure 1
Distribution of the 241 physicians specialized in Genetics and the 11 residency programs in Medical Genetics in Brazil.

There are only 11 residency programs in Medical Genetics in the country, which offer a total of 22 new vacancies per year to resident physicians, and, except for a program associated with the University of Brasila and another with the Federal University of Bahia, all the programs are located in the South and Southeast (Fig. 1)3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40..

Additionally, it is estimated that about twenty nurses are working in this field, most of them with PhD’s in Genetics. They are currently engaged in consolidating the Brazilian Society of Nurses in Genetics and Genomics, founded in June 2015 (Flória-Santos, personal communication).

Due to the concentration of professionals and services in the Southeast and South regions, there is significant migration of patients (especially from the North and Northeast) looking for health care. Lack of specialized human resources is an obstacle to the inclusion of Clinical Genetics in SUS55. 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.,2828. Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Publica. 2011; 29(1):61-8.,3232. Passos-Bueno MR, Bertola D, Horovitz DD, Faria Ferraz VE de, Brito LA. Genetics and genomics in Brazil: a promising future. Mol Genet Genomic Med. 2014; 2(4):280-91. and an obstacle to the implementation of PNAIPDR3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40..

In addition to this lack of specialists, there is also underdeveloped training of health professionals who work in PHC with regard to Clinical Genetics3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40.,3333. Vieira DKR, Attianezi M, Horovitz DD, Llerena Jr JC. Atenção em genética médica no SUS: a experiência de um município de médio porte. Physis. 2013a; 23(1):243-61.,3434. Gramasco HFF, Baptista FH, Ribeiro MG, Avó LRS de, Germano CMR, Melo DG. Genetics in Primary Healthcare in Brazil: potential contribution of mid-level providers and community health workers. J Community Med Health Educ [Internet]. 2016 [citado 30 Jun 2017]; 6(2):[7 p.]. Disponível em: http://dx.doi.org/10.4172/2161-0711.1000406
http://dx.doi.org/10.4172/2161-0711.1000...
. Generally speaking, medical professionals who work in PHC are capable of understanding situations in which it is necessary to refer patients to a genetics specialist, but they have difficulties with collecting and assessing family background information and identifying patterns of genetic heritage3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40.. Successful experiences in Genetics training with PHC professionals have been reported in the country3535. Melo DG, Gomes TLCS. Capacitação em Genética Médica para residentes em Medicina de Família e Comunidade: relato de experiência. Rev Atenção Prim Saúde. 2009; 12(1):83-7.,3636. Vieira TA, Giugliani C, Silva LP da, Faccini LS, Loguercio Leite JC, Artigalás OA, et al. Inclusion of medical genetics in primary health care: report of a pilot project in Brazil. J Community Genet. 2013b; 4(1):137-45., highlighting the potential of the Family Health Strategy to contribute to the implementation of PNAIPDR.

Care focused on individuals, which is a practice encouraged by the Family Health Strategy, favors a comprehensive and longitudinal approach to individuals, considering them as unique subjects, and also taking into account their families and sociocultural integration. Therefore, professionals who work in PHC can have more opportunities to identify hereditary diseases in families and map situations of environmental risk of congenital defects, such as exposure to teratogens. In addition, with regard to genetic diseases, which are usually multi-systemic and require the participation of large numbers of professionals, the coordination of care services carried out in PHC may ensure effective coordination between different levels of care3737. Starfield B, Holtzman NA, Roland MO, Sibbald B, Harris R, Harris H. Primary care and genetic services: Health care in evolution. Eur J Public Health. 2002; 12(1):51-6.,3838. Acheson L. Fostering applications of genetics in primary care: what will it take? Genet Med. 2003; 5(2):63-5.. Education of generalist health professionals who work in PHC is essential to properly translate recent findings in Genetic and Genomic Medicine into benefits to patients and families, contributing to reducing inequalities in Health3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40.,3434. Gramasco HFF, Baptista FH, Ribeiro MG, Avó LRS de, Germano CMR, Melo DG. Genetics in Primary Healthcare in Brazil: potential contribution of mid-level providers and community health workers. J Community Med Health Educ [Internet]. 2016 [citado 30 Jun 2017]; 6(2):[7 p.]. Disponível em: http://dx.doi.org/10.4172/2161-0711.1000406
http://dx.doi.org/10.4172/2161-0711.1000...
,3939. Emery J, Hayflick S. The challenge of integrating genetic medicine into primary care. BMJ. 2001; 322(7293):1027-30.,4040. Acheson LS, Wiesner GL. Current and future applications of genetics in primary care medicine. Prim Care. 2004; 31(3):449-60..

Although it is still limited, education and training in Genetics has been implemented in undergraduate medical courses in Brazil, but the Genetics knowledge proposed in curricula varies greatly with regard to the topics presented and their depth2828. Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Publica. 2011; 29(1):61-8.,4141. Rosa VL da. Genética humana e sociedade: conhecimentos, significados e atitudes sobre a ciência da hereditariedade na formação de profissionais de saúde [tese]. Florianópolis: Universidade Federal de Santa Catarina; 2000.,4242. Porciúncula CGG. Avaliação do ensino de genética médica nos cursos de medicina do Brasil [tese]. Campinas: Universidade de Campinas; 2004.. Usually, this learning is based on a subject that is often on its own, with limited clinical practice, and restricted to the study of diseases that are rare in the general population, but common in teaching hospitals4343. Melo DG, Demarzo MMP, Huber J. Ambulatório de genética médica na Apae: experiência no ensino médico de graduação. Rev Bras Educ Méd. 2008; 32(3):396-402..

The current Brazilian National Curriculum Guidelines (DCN) for undergraduate medical courses, published in 2014, establish as part of the skills profile for graduates: “Being able to propose and explain the diagnostic investigation to the person being cared for or the person in charge, so as to broaden, confirm or rule out diagnostic hypotheses, including recommendations for genetic counseling”1414. Câmara de Educação Superior (BR). Portaria no 3, de 20 de junho de 2014. Institui as Diretrizes Curriculares Nacionais do Curso de Graduação em Medicina e dá outras providências. Diário Oficial da União. 23 Jun 2014. [citado 30 Jun 2017]. Disponível em: http://pesquisa.in.gov.br/imprensa/jsp/visualiza/index.jsp?data=23/06/2014&jornal=1&pagina=8&totalArquivos=64
http://pesquisa.in.gov.br/imprensa/jsp/v...
. It is not clear in DCN which knowledge and skills are necessary to achieve this competency, which encouraged SBGM to position itself on the subject.

Minimum competencies in Genetics required of health professionals in Brazil in the context of PNAIPDR

Groups of specialists in human and Medical Genetics in Europe and the United States have been working on the development of educational guidelines and the establishment of genetics skills for health professionals4444. American Society of Human Genetics. Report from the ASHG Information and Education Committee: medical school core curriculum in genetics. Am J Hum Genet. 1995; 56(2):535-7.

45. Friedman JM, Blitzer M, Elsas LJ 2nd, Francke U, Willard HF. Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force. Genet Med. 1198; 1(1):54-5.

46. American Academy of Family Physicians. Core Educational Guidelines - Medical genetics: recommended core educational guidelines for family practice residents. Am Fam Physician. 1999; 60(1):305-7.

47. Lea DH. Position statement: integrating genetics competencies into baccalaureate and advanced nursing education. Nurs Outlook. 2004; 50(4):167-8.

48. Riegert-Johnson DL, Korf BR, Alford RL, Broder MI, Keats BJ, Ormond KE et al. Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med. 2004; 6(6): 543-47.

49. International Society of Nurses in Genetics. Genetics and genomics nursing: scope and standards of practice. Silver spring: American Nursing Association; 2007. 119p. [citado 30 Jun 2017] Disponível em: http://www.nursingworld.org/MainMenuCategories/EthicsStandards/Resources/Genetics-1/Genetics-and-Genomics-Nursing-Scope-and-Standards.pdf
http://www.nursingworld.org/MainMenuCate...

50. National Coalition for Health Professional Education in Genetics. Core competencies in genetics for health professionals [Internet]. 2007. [citado 30 Jun 2017]. Disponível em: www.nchpeg.org/documents/Core_Comps_English_2007.pdf
www.nchpeg.org/documents/Core_Comps_Engl...
-5151. European Society of Human Genetics. Core competences in genetics for health professionals in Europe [Internet]. 2008 [citado 30 Jun 2017]. Disponível em: https://www.eshg.org/139.0.html.
https://www.eshg.org/139.0.html...
.

Using the material produced by these groups in March 2015 as a reference, five geneticists, university professors, members of the SBGM Teaching Commission during the 2014-2016 term, and the authors of this paper met for two days with the purpose of developing a proposal for a profile of minimum competencies in Genetics, adapted to the Brazilian reality, considering PNAIPDR and the latest DCN for undergraduate medical courses. The material produced by this group of specialists was validated by other SBGM members on the Internet, and it is now presented in this paper.

The theoretical references of two organizations, the National Coalition for Health Professional Education in Genetics (NCHPEG) in the U.S.5050. National Coalition for Health Professional Education in Genetics. Core competencies in genetics for health professionals [Internet]. 2007. [citado 30 Jun 2017]. Disponível em: www.nchpeg.org/documents/Core_Comps_English_2007.pdf
www.nchpeg.org/documents/Core_Comps_Engl...
and the European Society of Human Genetics (ESHG)5151. European Society of Human Genetics. Core competences in genetics for health professionals in Europe [Internet]. 2008 [citado 30 Jun 2017]. Disponível em: https://www.eshg.org/139.0.html.
https://www.eshg.org/139.0.html...
were chosen as benchmarks for discussion. NCHPEG is a nonprofit organization whose purpose is to promote health professional education and access to information about advances in Human Genetics. In 2007, it published Core Competencies in Genetics for All Health-Care Professionals5050. National Coalition for Health Professional Education in Genetics. Core competencies in genetics for health professionals [Internet]. 2007. [citado 30 Jun 2017]. Disponível em: www.nchpeg.org/documents/Core_Comps_English_2007.pdf
www.nchpeg.org/documents/Core_Comps_Engl...
. As for ESHG, in 2008 it defined specific competences for physicians, nurses, obstetricians, and dentists who are not specialists in Genetics, and also for specialized physicians and nurses who work in the European Union5151. European Society of Human Genetics. Core competences in genetics for health professionals in Europe [Internet]. 2008 [citado 30 Jun 2017]. Disponível em: https://www.eshg.org/139.0.html.
https://www.eshg.org/139.0.html...
.

As a result of the work done by the SBGM, four core competencies were established for all health-care professionals: (1) examine their own clinical competence regularly, acknowledging any gaps and advances in Genetics and Genomics over time, understanding the need for continued education; (2) identify individuals who have or may develop genetic diseases and know how and when to refer them to medical genetics specialists; (3) handle patients with previously diagnosed genetic diseases or congenital defects, using clinical guidelines already established in the scope of their professional work; and (4) promote and encourage clinical practices and training in Health with the aim of preventing genetic diseases and congenital defects. Table 1 presents the specific set of necessary skills, knowledge, and actions that were defined to gain these competencies.

Table 1
Profile of minimum competencies in Genetics for all health professionals in Brazil, as proposed by the Brazilian Society of Medical Genetics.

This competency profile is expected to be included in undergraduate medical courses, for which DCN has already acknowledged the importance of Genetics in health care processes. Likewise, other undergraduate courses such as Nursing are expected to include Genetics in their curriculums and benefit from this proposed competency profile.

It is known that training of health professionals, especially physicians, on genetic diseases and congenital defects includes the suitability of training during courses, but also involves capturing graduate professionals2828. Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Publica. 2011; 29(1):61-8.,3131. Melo DG, Paula PK de, Araujo Rodrigues S de, Silva de Avó LR da, Germano CM, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015; 6(3):231-40.,3434. Gramasco HFF, Baptista FH, Ribeiro MG, Avó LRS de, Germano CMR, Melo DG. Genetics in Primary Healthcare in Brazil: potential contribution of mid-level providers and community health workers. J Community Med Health Educ [Internet]. 2016 [citado 30 Jun 2017]; 6(2):[7 p.]. Disponível em: http://dx.doi.org/10.4172/2161-0711.1000406
http://dx.doi.org/10.4172/2161-0711.1000...
. Therefore, it is necessary to permanently structure and promote courses of continued education for these professionals, within a time frame that will keep them up to date. One possible strategy is to take advantage of the period of one or two years of residency in family and community medicine as a training opportunity. The More Doctors in Brazil Project is currently set to make these residencies compulsory beginning in 2018, before entrance into other medical specialties5252. Presidência da República (BR). Casa Civil. Lei nº 12.871, de 22 de outubro de 2013. Institui o Programa Mais Médicos, altera as Leis no 8.745, de 9 de dezembro de 1993, e no 6.932, de 7 de julho de 1981, e dá outras providências. Diário Oficial da União, 23 Out 2013 [citado 30 Jun 2017]. Disponível em: http://www.planalto.gov.br/ccivil_03/_ato2011-2014/2013/Lei/L12871.htm
http://www.planalto.gov.br/ccivil_03/_at...
. The success of this strategy depends on possible developments in the program, which has been going through a period of institutional instability and uncertainty regarding its future.

Final considerations

By introducing a proposal for a profile of minimum competencies in Genetics for health professionals that is suitable to the Brazilian reality, we hope to provide a theoretical reference to guide the curriculums of health care courses, especially in Medicine. This very same competency profile can support policies for continued professional training in the field of Genetics, so as to enable the SUS workforce with regard to genetic diseases and congenital abnormalities, preparing professionals for implementation of PNAIPDR.

It is worth noting that the More Doctors Program aims to keep Medical Genetics as a specialty to which the residency program has direct access5252. Presidência da República (BR). Casa Civil. Lei nº 12.871, de 22 de outubro de 2013. Institui o Programa Mais Médicos, altera as Leis no 8.745, de 9 de dezembro de 1993, e no 6.932, de 7 de julho de 1981, e dá outras providências. Diário Oficial da União, 23 Out 2013 [citado 30 Jun 2017]. Disponível em: http://www.planalto.gov.br/ccivil_03/_ato2011-2014/2013/Lei/L12871.htm
http://www.planalto.gov.br/ccivil_03/_at...
. It is our understanding that it is the role of the Ministry of Health to launch more residency programs in Genetics, in order to ensure the training of sufficient specialized human resources to implement PNAIPDR in SUS.

Finally, it is essential to acknowledge the work of genetic counselors as health professionals and to clearly define their training and duties.

Acknowledgments

To Professor Dr. Lavínia Schuler Faccini, president of the Brazilian Society of Medical Genetics for the 2014-2016 term, for her critical review of this paper.

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  • 52
    Presidência da República (BR). Casa Civil. Lei nº 12.871, de 22 de outubro de 2013. Institui o Programa Mais Médicos, altera as Leis no 8.745, de 9 de dezembro de 1993, e no 6.932, de 7 de julho de 1981, e dá outras providências. Diário Oficial da União, 23 Out 2013 [citado 30 Jun 2017]. Disponível em: http://www.planalto.gov.br/ccivil_03/_ato2011-2014/2013/Lei/L12871.htm
    » http://www.planalto.gov.br/ccivil_03/_ato2011-2014/2013/Lei/L12871.htm

  • i
    In the context of PNAIPDR, a disease is considered rare if it affects up to 65 people per 100,000, that is, 1.3 per 2,000 individuals.
  • j
    The total of 241 specialists in Medical Genetics includes 17 (7.1%) with duplicated records.

Publication Dates

  • Publication in this collection
    2017

History

  • Received
    30 Mar 2016
  • Accepted
    12 June 2017
UNESP Botucatu - SP - Brazil
E-mail: intface@fmb.unesp.br