A carregar...
Publicação
As doenças raras na Europa: o enquadramento português
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 1.06 MB | Adobe PDF |
Orientador(es)
Resumo(s)
A EUCERD Joint Action (EJA) para as Doenças Raras (DR) integrou cinco domínios:
planos nacionais e estratégias, nomenclatura internacional para DR,
serviços sociais especializados, qualidade dos cuidados/centros de referência
e integração de iniciativas em DR. O objetivo deste artigo é descrever o
enquadramento português nas DR. Em novembro de 2014 foi realizado um
workshop em Portugal com oito países participantes. Foi descrita a situação
europeia para as DR e comparada com a realidade portuguesa. Estiveram
presentes: autoridades europeias, parceiros da EJA, especialistas, investigadores,
profissionais de saúde e associações de doentes. Realizou-se uma
análise qualitativa dos conteúdos das apresentações, posteriormente atualizada
através de análise documental. No domínio dos planos e estratégias
foi aprovada a Estratégia Integrada para as Doenças Raras 2015-2020 que
assenta numa cooperação interministerial, intersectorial e interinstitucional.
Em relação à nomenclatura, foi discutida e proposta a utilização do Orphanumber.
Foram descritas várias iniciativas no âmbito das DR e observados
exemplos de boas práticas na área dos serviços socias especializados. Recentemente,
Portugal reconheceu oficialmente vários Centros de Referência
Nacionais, onde se incluem alguns para as DR. Em conclusão, Portugal tem
vindo a desenvolver diversas atividades no domínio das DR sendo necessário
continuar com a integração das mesmas.
The EUCERD Joint Action (EJA) for Rare Diseases (RD) consists of five domains: national plans and strategies, international RD nomenclatures, specialized social services, quality of care/centres of expertise and integration of RD initiatives. This article intends to provide the Portuguese situation on RD. In November 2014, a workshop was held in Portugal and included participants from eight different countries. The European stateof- art in every domain was counterbalanced with the Portuguese reality. European authorities, EJA’s partners, experts, researchers, health care professionals and patients’ representatives were present. A qualitative data analysis of the presentations’ contents was performed and updated documental analysis. Concerning plans and strategies, a National Integrated Strategy 2015-2020, based on an inter-ministerial/sectoral/institutional cooperation, using medi cal, social, scientific and technological resources, for RD was approved. Regarding nomenclature, health professionals use different coding systems. A proposal for the ORPHA number system to be adopted in disease nomenclature was discussed. Among specialized social services, good practices examples were described and RD initiatives were observed. Finally, just recently, Portugal recognized officially national Reference Centres which include some for RD. In conclusion, regarding the different domains of RD, Portugal has been developing several activities and its integration needs to continue.
The EUCERD Joint Action (EJA) for Rare Diseases (RD) consists of five domains: national plans and strategies, international RD nomenclatures, specialized social services, quality of care/centres of expertise and integration of RD initiatives. This article intends to provide the Portuguese situation on RD. In November 2014, a workshop was held in Portugal and included participants from eight different countries. The European stateof- art in every domain was counterbalanced with the Portuguese reality. European authorities, EJA’s partners, experts, researchers, health care professionals and patients’ representatives were present. A qualitative data analysis of the presentations’ contents was performed and updated documental analysis. Concerning plans and strategies, a National Integrated Strategy 2015-2020, based on an inter-ministerial/sectoral/institutional cooperation, using medi cal, social, scientific and technological resources, for RD was approved. Regarding nomenclature, health professionals use different coding systems. A proposal for the ORPHA number system to be adopted in disease nomenclature was discussed. Among specialized social services, good practices examples were described and RD initiatives were observed. Finally, just recently, Portugal recognized officially national Reference Centres which include some for RD. In conclusion, regarding the different domains of RD, Portugal has been developing several activities and its integration needs to continue.
Descrição
Palavras-chave
Doenças Raras Doenças Genéticas Programas e Registos Saúde Pública Europa Portugal EUCERD Joint Action
Contexto Educativo
Citação
Boletim Epidemiológico Observações. 2015;5(Supl 7):4-7
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP