Testes genéticos no diagnóstico e monitorização de doenças humanas
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Data
2020
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Os avanços na área genética, permitiram que os testes genéticos se tornassem numa ferramenta clínica com enorme potencial no diagnóstico e monitorização de doenças, sendo expectável, que estes constituam o futuro da medicina personalizada. A realização do presente trabalho pretende, demonstrar a importância dos testes genéticos na prática clínica, bem como, a contribuição da profissão farmacêutica na sua aplicação, e ainda aferir a literacia relativamente aos testes genéticos na população portuguesa sobre este tema.
No que respeita à metodologia, realizou-se uma análise da literatura científica, recorrendo ao PubMed e ao Google Scholar. Posteriormente, realizou-se um questionário anónimo e confidencial, a fim de determinar o grau de literacia da população em genética.
Os resultados mostraram que as habilitações académicas estão diretamente relacionadas com o conhecimento revelado. Verificou-se ainda, que a maioria dos inquiridos revelou conhecimentos razoavelmente elevados, demonstrando maior interesse na sua utilização. Os participantes consideraram a possibilidade de a interpretação dos resultados ser falível, e evidenciaram ainda preocupações deontológicas.
Esta dissertação destacou, inequivocamente, o impacto da componente genética nas doenças humanas, como as demais inovadoras aplicações no diagnóstico e monitorização. Em suma, a aplicação do conhecimento, relativo às tecnologias de diagnóstico genéticas pode oferecer melhorias na saúde pública e na inclusão do farmacêutico na medicina personalizada.
Advances in the genetic field have allowed genetic tests to become a clinical tool with enormous potential in the diagnosis and monitoring of diseases, and it is expected that these will constitute the future of personalised medicine. This study aims to demonstrate the importance of genetic tests in clinical practice, as well as the contribution of the pharmaceutical profession in their application, and also to assess literacy in relation to genetic tests in the Portuguese population on this subject. Regarding the methodology, an analysis of the scientific literature was carried out using PubMed and Google Scholar. Subsequently, an anonymous and confidential questionnaire was performed in order to determine the degree of literacy of the population in genetics. The results showed that academic qualifications are directly related to the knowledge revealed. It was also found that the majority of respondents showed reasonably high knowledge, showing greater interest in its use. The participants considered the possibility that the interpretation of the results was fallible and also demonstrated deontological concerns. This dissertation clearly contrasts the impact of the genetic component on human diseases, like the other innovative applications in diagnosis and monitoring. In short, the application of knowledge on genetic diagnostic technologies can offer improvements in public health and in the inclusion of the pharmacist in personalized medicine.
Advances in the genetic field have allowed genetic tests to become a clinical tool with enormous potential in the diagnosis and monitoring of diseases, and it is expected that these will constitute the future of personalised medicine. This study aims to demonstrate the importance of genetic tests in clinical practice, as well as the contribution of the pharmaceutical profession in their application, and also to assess literacy in relation to genetic tests in the Portuguese population on this subject. Regarding the methodology, an analysis of the scientific literature was carried out using PubMed and Google Scholar. Subsequently, an anonymous and confidential questionnaire was performed in order to determine the degree of literacy of the population in genetics. The results showed that academic qualifications are directly related to the knowledge revealed. It was also found that the majority of respondents showed reasonably high knowledge, showing greater interest in its use. The participants considered the possibility that the interpretation of the results was fallible and also demonstrated deontological concerns. This dissertation clearly contrasts the impact of the genetic component on human diseases, like the other innovative applications in diagnosis and monitoring. In short, the application of knowledge on genetic diagnostic technologies can offer improvements in public health and in the inclusion of the pharmacist in personalized medicine.
Descrição
Orientação: João Guilherme Costa
Palavras-chave
MESTRADO INTEGRADO EM CIÊNCIAS FARMACÊUTICAS, CIÊNCIAS FARMACÊUTICAS, TESTES GENÉTICOS, DIAGNÓSTICOS, MONITORIZAÇÃO, FARMACÊUTICOS, PHARMACEUTICAL SCIENCES, GENETIC TESTING, DIAGNOSES, MONITORING, PHARMACISTS, MEDICINA PERSONALIZADA, PERSONALIZED MEDICINE