A realização do teste molecular diagnostico em doenças neurodegenerativas de inicio tardio : a visão do paciente e dos profissionais de saude
Rejane Scolari Rezende Paiva
DISSERTAÇÃO
Português
(Broch.)
T/UNICAMP P166r
Campinas, SP : [s.n.], 2002.
78 f. : il.
Orientadores : Iscia T. Lopes Cendes, Roberto B. Paiva e Silva
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Resumo: Com o avanço da genética molecular, hoje é possível detectar alterações genéticas específicas responsáveis por várias doenças, até mesmo antes do indivíduo manifestar qualquer sintoma. Assim, testes genéticos podem ser realizados para a confirmação diagnóstica, o teste diagnóstico (TD) e...
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Resumo: Com o avanço da genética molecular, hoje é possível detectar alterações genéticas específicas responsáveis por várias doenças, até mesmo antes do indivíduo manifestar qualquer sintoma. Assim, testes genéticos podem ser realizados para a confirmação diagnóstica, o teste diagnóstico (TD) e para a realização de testes pré-sintomáticos ou testes preditivos (TP). Neste trabalho abordamos questões relacionadas com os testes moleculares, TD e TP, para dois grupos de doenças neurodegenerativas: a doença de Huntington (DH) e as ataxias espinocerebelares (AEC). Ambas são doenças degenerativas, progressivas, geralmente familiares, cujo sintomas se iniciam em idade variada entre a primeira e a quinta década de vida, progridem lentamente, levando ao óbito após 15 a 20 anos. Nossos objetivos principais foram: a) conhecer a opinião dos pacientes que se submetem a confirmação diagnóstica, pelo teste molecular (TD) e b) investigar a opinião e atitudes dos profissionais de saúde, que podem seguir esses pacientes, em relação ao TD e TP. Utilizamos questionários padronizados abordando questões específicas para cada um dos objetivos propostos. No grupo de pacientes foram entrevistados um total de 40 indivíduos, sendo 30 no período anterior ao recebimento do resultado do TD. Foram também enviados 530 questionários para profissionais de saúde divididos em cinco grupos: 80 médicos geneticistas, 100 neurologistas, 100 psiquiatras, 100 enfermeiros e 150 psicólogos. Pode-se observar que a grande maioria dos pacientes, sendo 82% dos pacientes com DH e 79% com AEC realizam o TD para obter a confirmação diagnóstica. Contudo, 100% dos pacientes para DH e 95% para AEC acreditam que a realização do TD terá impacto importante nas pesquisas sobre a qual é portador. Além disso, 73% dos pacientes com DH e 79% dos pacientes com AEC, consideram que a realização do TD é importante para o planejamento familiar. Contudo, grande parte dos pacientes, tanto para DH quento para AEC não demonstraram receios referentes a realização do TD. Com relação aos profissionais de saúde, 24% dos profissionais responderam ao questionário, sendo 24% dos enfermeiros, 30% dos médicos geneticistas, 18% dos neurologistas, 24% dos psiquiatras e 23% dos psicólogos. Observamos que há diferença entre os grupos de profissionais que participaram deste trabalho quanto ao conhecimento do TD e TP. A maioria dos profissionais que estão acompanhando pacientes com DH ou AEC e que conhecem a possibilidade desses pacientes realizarem o TD e TP são os neurologistas (65%) e médicos geneticistas (29%). No entanto, 94% dos neurologistas e 61% dos médicos geneticistas, preferem não lidar com as questões referentes a orientação sobre o TD e TP. Apesar de desnecessário do ponto de vista do seguimento médico, a realização do TD parece ser benéfica para os pacientes, diminuindo sua ansiedade com relação a incerteza do diagnóstico. Com isso, concluímos que o TD deve continuar a ser oferecido aos pacientes do ambulatório de neurogenética. Além disso, os profissionais de saúde que podem vir a acompanhar pacientes com DH e AEC devem ser melhor orientados quanto as doenças e seus respectivos testes, para aprimorar o atendimento destes pacientes e seus familiares
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Abstract: Recent advances in molecular genetics have made it possible to detect specific genetic alterations responsible for various diseases even before the individual manifests any symptoms. Hence, genetic tests can be performed to confirm diagnoses - diagnostic tests (DT) as well as...
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Abstract: Recent advances in molecular genetics have made it possible to detect specific genetic alterations responsible for various diseases even before the individual manifests any symptoms. Hence, genetic tests can be performed to confirm diagnoses - diagnostic tests (DT) as well as pre-symptomatic or predictive tests (PT). This study deals with aspects related to the molecular tests DT and PT for two groups of neurodegenerative diseases: Huntington¿s Disease (HD) and Spinocerebellar Ataxias (SCA). Both the diseases are progressive, degenerative, generally familial, with varying ages for the onset of symptoms, ranging from the first to the fifth decade of life, progress slowly and lead to death after 15 to 20 years. Our main objectives were: a) to obtain the opinion of patients who are subjected to a diagnostic confirmation using the molecular test (DT) ; b) to study the opinion and attitude of health professionals who accompany these patients with regard to the DT and PT. We utilized a standardized questionnaire consisting of specific questions for each of our objectives. A total of 40 individuals were interviewed from the patient group, 30 of these patients were interviewed before they received the DT results. A total of 530 questionnaires were sent to five groups of health professionals: 80 geneticists; 100 neurologists; 100 psychiatrists; 100 nurses; 150 psychologists.
It was observed that a great majority of the patients- 82% of the patients with HD and 79% of the patients with SCA underwent the DT for diagnostic confirmation. The opinion of 100% of the HD patients and 95% of the SCA patients was that the DT had an important impact on research being conducted on these diseases. In addition, 73% of the patients with HD and 79% of the SCA patients considered the DT to be important for family planning. Overall, most of the patients, both HD and SCA, did not demonstrate any apprehension in relation to the DT. In the case of the health professionals, 24% answered the questionnaire. This percentage consisted of 24% of the nurses, 30% of the geneticists, 18% of the neurologists, 24% of the psychiatrists and 23% of the psychologists.A difference was observed in the various professional groups with regard to knowledge about DT and PT. Most of the professionals who accompanied their HD and SCA patients and knew about the possibilities of the DT and PT were neurologists (65%) and geneticists (29%). Nevertheless, 94% of the neurologists and 61% of the geneticists preferred not having to deal with questions related to DT and PT guidance. Although unnecessary for the medical follow-up, the DT is beneficial for patients as it reduces anxiety resulting from uncertain diagnostics. Therefore, the DT should be offered to patients at the Neurogenetic ambulatory unit and health professionals who accompany their HD and SCA patients should be provided with better guidance regarding the disease and their respective tests so that there is an improvement in the treatment received by the patients and their families Ver menos
It was observed that a great majority of the patients- 82% of the patients with HD and 79% of the patients with SCA underwent the DT for diagnostic confirmation. The opinion of 100% of the HD patients and 95% of the SCA patients was that the DT had an important impact on research being conducted on these diseases. In addition, 73% of the patients with HD and 79% of the SCA patients considered the DT to be important for family planning. Overall, most of the patients, both HD and SCA, did not demonstrate any apprehension in relation to the DT. In the case of the health professionals, 24% answered the questionnaire. This percentage consisted of 24% of the nurses, 30% of the geneticists, 18% of the neurologists, 24% of the psychiatrists and 23% of the psychologists.A difference was observed in the various professional groups with regard to knowledge about DT and PT. Most of the professionals who accompanied their HD and SCA patients and knew about the possibilities of the DT and PT were neurologists (65%) and geneticists (29%). Nevertheless, 94% of the neurologists and 61% of the geneticists preferred not having to deal with questions related to DT and PT guidance. Although unnecessary for the medical follow-up, the DT is beneficial for patients as it reduces anxiety resulting from uncertain diagnostics. Therefore, the DT should be offered to patients at the Neurogenetic ambulatory unit and health professionals who accompany their HD and SCA patients should be provided with better guidance regarding the disease and their respective tests so that there is an improvement in the treatment received by the patients and their families Ver menos
A realização do teste molecular diagnostico em doenças neurodegenerativas de inicio tardio : a visão do paciente e dos profissionais de saude
Rejane Scolari Rezende Paiva
A realização do teste molecular diagnostico em doenças neurodegenerativas de inicio tardio : a visão do paciente e dos profissionais de saude
Rejane Scolari Rezende Paiva
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