0210/2019 - Doenças genéticas raras com abordagem qualitativa: Revisão integrativa da literatura nacional e internacional. Rare genetic diseases with qualitative approach: Integrational review of national and international literature.
Resumo: atualmente, há entre seis e oito mil adoecimentos catalogados por doenças raras, sendo que 80% são de origem genética e entre os estudos sobressaem os de natureza quantitativa e biomédica. Objetivou-se identificar e descrever as características dos estudos científicos, no Brasil e internacionalmente, com abordagem qualitativa, acerca das doenças genéticas raras publicados em bases indexadas na área da saúde e das ciências sociais. Utilizaram-se as bases de dados Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus e CINAHL, com os descritores: “Qualitative Research” e “Rare Disease”, entre 2013-2018. Foram selecionados 171 artigos, classificados por ano, país, idioma, tipo de doença rara, estratégia de coleta de dados, área de conhecimento e tema. As produções revelam a pertinência dos estudos qualitativos sobre doença genética rara no seu potencial para subsidiar a organização, a tomada de decisões e a formação em saúde, de maneira que respondam às necessidades sociais e individuais da comunidade. É importante, todavia, desenvolver mais estudos, principalmente brasileiros, que abordem as condições genéticas raras relevando as vivências e os afetamentos nas interações pessoais, familiares, profissionais e organizacionais perante os modos próprios e efetivos de cuidar.
Palavras-chave:
Doença rara; Genética; Pesquisa qualitativa; Experiência do adoecimento.
Abstract:
Abstract: Currently, there are between 6 and 8 thousand diseases classified as rare diseases, 80% of which are of genetic origin and among the studies are those of a quantitative and biomedical nature. The objective of this study was to identify and describe the characteristics of scientific studies in Brazil and internationally with a qualitative approach on rare genetic diseases published in indexed databases in the health and social sciences area. We used the databases Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus and CINAHL, with the descriptors: \"Qualitative Research\" and \"Rare Disease\" between 2013-2018. We ed 171 articles, classified by year, country, language, type of rare disease, data collection strategy, area of knowledge and theme. Productions reveal the relevance of qualitative studies on rare genetic disease in their potential to support organization, decision making, and health training in a way that responds to the social and individual needs of the community. It is important, however, to develop more studies, mainly Brazilian ones, that address the rare genetic conditions, revealing the experiences and the affections in the personal, familiar, professional and organizational interactions before the own and effective modes of care.
Keywords:
Rare disease; Genetics; Qualitative research; Experience of illness.
Rare genetic diseases with qualitative approach: Integrational review of national and international literature.
Resumo (abstract):
Abstract: Currently, there are between 6 and 8 thousand diseases classified as rare diseases, 80% of which are of genetic origin and among the studies are those of a quantitative and biomedical nature. The objective of this study was to identify and describe the characteristics of scientific studies in Brazil and internationally with a qualitative approach on rare genetic diseases published in indexed databases in the health and social sciences area. We used the databases Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus and CINAHL, with the descriptors: \"Qualitative Research\" and \"Rare Disease\" between 2013-2018. We ed 171 articles, classified by year, country, language, type of rare disease, data collection strategy, area of knowledge and theme. Productions reveal the relevance of qualitative studies on rare genetic disease in their potential to support organization, decision making, and health training in a way that responds to the social and individual needs of the community. It is important, however, to develop more studies, mainly Brazilian ones, that address the rare genetic conditions, revealing the experiences and the affections in the personal, familiar, professional and organizational interactions before the own and effective modes of care.
Palavras-chave (keywords):
Rare disease; Genetics; Qualitative research; Experience of illness.
Souza, IP, Androlage, J.S, BELLATO, R, Barsaglini, R.. Doenças genéticas raras com abordagem qualitativa: Revisão integrativa da literatura nacional e internacional.. Cien Saude Colet [periódico na internet] (2019/jul). [Citado em 23/01/2025].
Está disponível em: http://cienciaesaudecoletiva.com.br/artigos/doencas-geneticas-raras-com-abordagem-qualitativa-revisao-integrativa-da-literatura-nacional-e-internacional/17284?id=17284
