Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica

Abstract

Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

Evaluación de la percepción de los estudiantes de medicina sobre la genética médica durante el curso y la vida profesional, en un Centro Universitario de Belém, Pará, Amazônia

“…Destaca el hecho de la importancia del autoaprendizaje continuo dentro del panorama de la metodología activa, como formador de un profesional médico crítico y reflexivo, como afirman Prado y sus colaboradores (PRADO et al, 2012). La Sociedad Brasileña de Genética Médica y Genómica (SBGM) ha definido competencias desajables en Genética para médicos en Brasil, incluyendo la identificación de individuos que tienen o pueden desarrollar una enfermedad genética y saber cuándo derivar a estos pacientes (MELO et al, 2019). Así, el Centro Universitario del Estado de Pará, donde se desarrolló la investigación, realizó un cambio curricular en el curso de medicina en 2019, integralizando el Ambulatorio de Genética Médica en el quinto semestre y ofreciendo prácticas extracurriculares para disciplina, a partir del 6º semestre.…”

Do surgimento à extinção: a trajetória de um serviço ambulatorial de genética médica no Brasil

“…A suspeição de doenças genéticas ou de situações de risco para o seu desenvolvimento é uma competência esperada por parte dos profissionais de saúde que atuam na atenção básica, que nem sempre é suficientemente desenvolvida 3,14,15 . A utilização de instrumentos, como questionários e fichas, que facilitem o reconhecimento de fatores de risco e de situações suspeitas, de forma sistematizada, tem sido apontada como uma estratégia útil a ser incorporada pela rede de atenção básica para facilitar a identificação de pessoas com doenças genéticas, o que permite o encaminhamento regulado para serviços especializados 16,17 .…”

“…Genética é a especialidade médica com menor número de especialistas no Brasil 4 . Embora o Ministério da Saúde considere a especialidade prioritária, existem apenas 11 programas de Residência Médica em Genética no país, que oferecem, no total, 27 novas vagas para médicos residentes por ano e, à exceção de um programa vinculado à Secretaria de Estado de Saúde do Distrito Federal e outro programa vinculado à Universidade Federal da Bahia, todos os demais estão localizados nas regiões Sul e Sudeste 15 . A formação de especialistas na área tem, portanto, acontecido de forma lenta e desigual.…”

Medical genetics workforce in Brazil: practitioners, services, and disease distribution

“…Our study has strengths and limitations. The status of medical genetics in Brazil has been examined before from a variety of perspectives 13,[16][17][18] , although, as far as we know, this is the first study to include reports of RGD and HCS obtained from open databases in the public and private healthcare systems, in relation to the presence of MGs. The MG demography database was very reliable, since it was created using three other databases that require compulsory registration of medical professionals 8 .…”