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Advisor(s)
Abstract(s)
Esta monografia investiga a aplicação da farmacogenética (PGx) em contexto hospitalar, com foco na personalização da terapêutica em oncologia, doenças infeciosas e cardiologia. A farmacogenética promete revolucionar a medicina ao ajustar tratamentos de acordo com a variabilidade genética dos doentes, aumentando a eficácia e minimizando efeitos adversos.
Na oncologia, a personalização das doses de 5-fluorouracilo e tamoxifeno, baseada na genotipagem de enzimas como DPYD e CYP2D6, mostrou-se eficaz, levando a uma melhoria significativa dos resultados terapêuticos. Em doenças infeciosas, a monografia detalha como a variabilidade genética afeta a resposta ao antifúngico voriconazol, essencial para evitar toxicidade e otimizar a dosagem. Em cardiologia, variantes genéticas do CYP450 e CYP2C19 são usadas para orientar o uso de agentes antiplaquetários, como clopidogrel, assegurando tratamentos mais seguros e eficazes.
A pesquisa incluiu uma revisão de literatura científica e diretrizes clínicas, consolidando evidências robustas sobre a implementação da PGx na prática clínica. Este trabalho visa demonstrar a importância e o impacto da farmacogenética na medicina personalizada, oferecendo insights valiosos para a melhoria dos cuidados de saúde e redução nos seus custos.
This thesis investigates the application of pharmacogenetics (PGx) in a hospital setting, with a focus on personalizing therapy in oncology, infectious diseases and cardiology. Pharmacogenetics promises to revolutionize medicine by adjusting treatments according to patients' genetic variability, increasing efficacy and minimizing adverse effects. In oncology, the personalization of 5-fluorouracil and tamoxifen doses, based on the genotyping of enzymes such as DPYD and CYP2D6, has proved effective, leading to a significant improvement in therapeutic results. In infectious diseases, the thesis details how genetic variability affects the response to the antifungal voriconazole, which is essential for avoiding toxicity and optimizing dosage. In cardiology, genetic variants of CYP450 and CYP2C19 are used to guide the use of antiplatelet agents such as clopidogrel, ensuring safer and more effective treatments. The research included a review of scientific literature and clinical guidelines, consolidating robust evidence on the implementation of PGx in clinical practice. This work aims to demonstrate the importance and impact of pharmacogenetics in personalized medicine, offering valuable insights for improving healthcare and reducing its costs.
This thesis investigates the application of pharmacogenetics (PGx) in a hospital setting, with a focus on personalizing therapy in oncology, infectious diseases and cardiology. Pharmacogenetics promises to revolutionize medicine by adjusting treatments according to patients' genetic variability, increasing efficacy and minimizing adverse effects. In oncology, the personalization of 5-fluorouracil and tamoxifen doses, based on the genotyping of enzymes such as DPYD and CYP2D6, has proved effective, leading to a significant improvement in therapeutic results. In infectious diseases, the thesis details how genetic variability affects the response to the antifungal voriconazole, which is essential for avoiding toxicity and optimizing dosage. In cardiology, genetic variants of CYP450 and CYP2C19 are used to guide the use of antiplatelet agents such as clopidogrel, ensuring safer and more effective treatments. The research included a review of scientific literature and clinical guidelines, consolidating robust evidence on the implementation of PGx in clinical practice. This work aims to demonstrate the importance and impact of pharmacogenetics in personalized medicine, offering valuable insights for improving healthcare and reducing its costs.
Description
Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, 2024, Universidade de Lisboa, Faculdade de Farmácia.
Keywords
Farmacogenética Alterações terapêuticas Testagem farmacogenética Aplicação clínica Mestrado Integrado - 2024