Publication: Estudio epidemiológico descriptivo y aspectos ético-legales del programa de detección y asesoramiento genético de la Comunidad de Madrid en la consulta de cáncer familiar de mama y ovario
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2021-07-13
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Universidad Complutense de Madrid
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Abstract
El programa de detección y asesoramiento genético en cáncer familiar de la Comunidad de Madrid se elaboró en 2005 con el objeto de definir los criterios mínimos sobre actuaciones frente a las distintas modalidades tumorales y su manejo clínico. Además, persigue asegurar una detección precoz analizando la predisposición genética, tomando así medidas en una etapa temprana de la enfermedad donde se ha demostrado que se incrementa notablemente la supervivencia de los pacientes.
Con este trabajo pretendemos la mejora del proceso de asesoramiento genético, actualizando dicho programa con recomendaciones dirigidas a una actividad más personalizada, y que surgen de abordar los retos, tanto de índole ética como legal, aparecidos tras la llegada de la secuenciación masiva...
The detection and genetic counseling program in family cancer of the Community of Madrid was developed in 2005 in order to define the minimum criteria for actions against the different tumor phenotypes and their clinical management. In addition, it seeks to ensure early detection by analyzing the genetic predisposition, thus taking measures at an early stage of the disease where it has been shown that patients' survival is markedly increased. With this work we intend to improve the genetic counseling process, updating the program with recommendations aimed at a more personalized activity, and that arise from addressing the challenges, both ethical and legal, that appeared after the arrival of new generation sequencing...
The detection and genetic counseling program in family cancer of the Community of Madrid was developed in 2005 in order to define the minimum criteria for actions against the different tumor phenotypes and their clinical management. In addition, it seeks to ensure early detection by analyzing the genetic predisposition, thus taking measures at an early stage of the disease where it has been shown that patients' survival is markedly increased. With this work we intend to improve the genetic counseling process, updating the program with recommendations aimed at a more personalized activity, and that arise from addressing the challenges, both ethical and legal, that appeared after the arrival of new generation sequencing...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina legal, Psiquiatría y Patología, leída el 22/02/2021