Oncogenetic counselling in Portugal

• Autor(a) principal: Condé, Mariana de Oliveira Ribeiro e Sousa
• Data de Publicação: 2017
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.6/8126
• topic: Aconselhamento Genético; Aconselhamento Oncogenético; Educação Genética; Oncogenética; Serviços Portugueses de Genética Oncológica; Domínio/Área Científica::Ciências Médicas::Ciências da Saúde::Medicina

Introduction: Genetic counselling is an increasingly current subject area especially its branch of oncogenetics due to the prevalence of hereditary neoplastic syndromes. The scientific and technological evolution associated with this matter has made genetic testing available to the population, increasing the need and importance of introducing genetic counselling into the national health system (NHS) for appropriate guidance and support of patients and their families. However, this is still an area with little visibility and awareness by other medical professionals, which translates as few specialised professionals, and therefore, scarce specialised services. This portrays that the awareness for the inclusion of these services within the national health system (NHS) is present, however, there are still barriers that need to be overcome to fully reach all the patients and families in need. Objective: The main objective of this study is to understand how Portugal has developed its genetic counselling practice and how it is organised at a national level. As secondary objectives this review aims to Identify development of genetic counselling in Portugal, and how it has been able to reach all the patients and families in need of these services, identify new opportunities for development and enhancement of genetic counselling practice in Portugal and compare genetic counselling practice in Portugal with other European countries, through a descriptive literature review. Methods: Research of scientific articles in the Pubmed, ResearchOnly, Google Scholar and UpToDate databases, and use of bibliographic references. Results: Portugal has initiated this introduction by creating a master’s degree, having legislation related to the subject, having developed guidelines and recommendation for oncogenetic patients, and by having a national association of genetic counsellors (APPAcGen), as well as be part of international associations, such as the European Society of Human Genetics. Genetic counselling is integrated into some medical services and is part of the medical practice in Portugal, however, there is still a lack of specialised professionals and integration of these in multidisciplinary teams within the NHS. Conclusion: Portugal has initiated the development of this area within its services, however, as it still is an unrecognised medical profession, its inclusion within the NHS is hard and has shown to have many barriers. At a European level, Portugal is heading the right direction, accompanying many other European countries in the development of this subject area.