Qualificação e provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS)

Abstract

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.

Da busca pelo diagnóstico às incertezas do tratamento: desafios do cuidado para as doenças genéticas raras no Brasil

“…Errors and late diagnosis of rare genetic diseases are frequent among non-specialists, which indicates the need for further guidance and continued training of the medical staff 15 . The teaching of genetics in Brazilian medical courses is usually limited to a single discipline of medical genetics, and is optional in some universities 13 , meaning that physicians can complete their course of training without a minimum knowledge in genetics.…”

“…For professionals and patients, the hereditary nature of rare genetic diseases points to the need for information and accountability for the proper orientation of future reproductive decisions. Genetic counseling is a central concern for medical genetics professionals, which has reflected on the training and need requirements of regulation of the profession in Brazil 13,17 .…”

“…Cities were selected in different regions of the country to analyze the differences, similarities, barriers and facilities in the therapeutic itineraries of patients or caregivers with rare genetic diseases. Of the three cities, Salvador has the lowest number of geneticists, only 9, compared to 24 in Rio de Janeiro 13 . On the other hand, Porto Alegre has 34 medical geneticists 13 and is considered a reference center for genetics in Brazil.…”

“…Of the three cities, Salvador has the lowest number of geneticists, only 9, compared to 24 in Rio de Janeiro 13 . On the other hand, Porto Alegre has 34 medical geneticists 13 and is considered a reference center for genetics in Brazil. It is common that requests for genetic testing from other states are sent there to be performed.…”

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

“…Furthermore, the change in the epidemiological profile has rendered genetically determined disorders increasingly relevant as a public health concern 2 . 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 3,4 .…”