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Master's Dissertation
DOI
https://doi.org/10.11606/D.22.2020.tde-20032020-134139
Document
Author
Full name
Ana Paula Torres
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2019
Supervisor
Committee
Santos, Milena Jorge Simões Flória Lima (President)
Abrahão, Anelise Riedel
Ferraz, Victor Evangelista de Faria
Nascimento, Lucila Castanheira
Title in Portuguese
O processo e a prática do aconselhamento genético no Brasil: uma revisão de escopo
Keywords in Portuguese
Aconselhamento genético
Genética humana
Literatura de revisão como assunto
Abstract in Portuguese
Nessa dissertação foi realizada uma scoping review (SR) com objetivo de buscar na literatura o que existe, até o presente momento, para verificar as principais evidências científicas referentes ao processo e à prática do aconselhamento genético (AG) no Brasil. O método apresentado nessa revisão, scoping review, é utilizado para investigar conceitos-chave subjacentes a uma nova área de pesquisa, explorar de forma sistematizada os conceitos, teorias, evidências e lacunas referentes a um tema específico. O estudo propôs como questão de pesquisa: "Quais são as evidências científicas referentes ao processo e à prática do AG no Brasil?" Os descritores e palavras-chave prioritariamente utilizados para realizar a busca nas bases de dados foram: genetic counseling OR genetic service, Latin America OR South America OR Brazil OR Brazilian. Após utilizar a estratégia de busca, específica para cada uma das seis bases de dados (PubMed, EMBASE, SCOPUS e Web of Science, CINAHL e LILACS), foram encontrados 1028 artigos, os quais foram exportados para o software Rayyan QCRI e removidos aqueles que se encontravam em duplicata. Foram excluídos artigos em duplicata entre as bases supracitadas; trabalhos que se referiam a modelos animais, relatos de casos, editoriais, cartas, revisões de literatura, resumos e dissertações e teses; literatura cinzenta; e que não haviam sido produzidos no Brasil. Por meio desse software, dois revisores executaram, de forma independente, a leitura dos títulos e resumos de 609 artigos e 62 foram selecionados para a leitura na íntegra. Dentre esses últimos, apenas 25 de fato respondiam à questão de pesquisa. De acordo com os estudos que compuseram a amostra final desta revisão, percebe-se que ainda não há um consenso sobre os modelos de prática de AG utilizados no Brasil e nem clareza sobre as ações que compôem o processo de aconselhamento. O AG, marjoritariamente é realizado por médicos, embora esteja evidenciado na literatura a importância da equipe multiprofissional. Vale salientar, que se trata de uma área de estudo em ascenção, pois possui uma grande demanda e apresenta um número de publicações crescente a cada ano.
Title in English
The process and practice of genetic counseling in Brazil: a scope review
Keywords in English
Genetic counseling
Genetics service
Public health
Review
Abstract in English
In the present dissertation, the author carries out a scoping review (SR) to analyse the main scientific evidences concerning the process and the practice of Genetic Counselling (GR) in Brazil. The scoping review method is used to investigate key-concepts present in a new area of research and to explore, in a systematized way, the concepts, theories, evidences and omissions regarding a specific subject. This study proposes as its subject of research the following question: "what are the scientific evidences regarding the process and the practice of GR in Brazil?". The descriptors and key-words primarily used in the research in databases were: genetic counselling OR genetic service, Latin America OR South America OR Brazil OR Brazilian. Research strategies tailored to each one of the six databases (PubMed, EMBASE, SCOPUS, y Web of Science, CINAHL y LILACS) led to 1028 articles, which were exported to the Rayyan QCRI software. Articles that were published in more than on database, works regarding animal models, case reports, editorials, letters, literature reviews, summaries, dissertations, theses, grey literature, and works that were not published in Brazil were all excluded. Making use of this software, two independent reviewers read the titles and summaries of 609 articles, from among which 62 were selected to be fully read. Only 25 of these 62 articles effectively answered the question proposed in the dissertation. The studies present in the final sample of this revision show that there is not a consensus regarding the models of practice of GR used in Brazil, as well as that there is a lack of clarity concerning the actions that are part of the counselling process. RG is mainly performed by doctors, in spite of the fact that the specialized literature shows the importance of multiprofessional teams. It is important to highlight the importance of this area of research, as shown by an increasing demand and by a growing number of studies published every year.
 
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Publishing Date
2020-05-12
 
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