La medicina de precisión ya no es una fábula de la ciencia ficción. Son muchas sus ventajas. Hoy día ofrece esperanza a los pacientes con cáncer, cardiopatías, depresión y enfermedades raras, las cuales tradicionalmente no son factibles de diagnosticar ni tratar.
La medicina de precisión o personalizada está basada en que la predicción, el diagnóstico, el tratamiento y la prevención pueden adaptarse a las necesidades personales de un paciente. Se tienen en cuenta su perfil genético, ambiente y estilo de vida.
La medicina de precisión y el beneficio que puede aportar a los pacientes fueron los temas claves en Medicina Personalizada 2016: avanzar en la atención a través de la genómica.
Esta conferencia de dos días, en el Centro Cívico Mayo de Rochester, reunió a líderes de todo el mundo en esta rama de la medicina. Asistieron más de 800 proveedores de atención médica, investigadores e innovadores en biotecnología.
¿Cómo se puede Aplicar la Medicina de Precisión ?
Según el Centro para Medicina Personalizada de Mayo Clinic, hay cuatro maneras por las cuales los médicos pueden aplicar la medicina de precisión en el tratamiento de sus pacientes:
El estudio RIGHT, realizado en Mayo Clinic, mostró que el 99 por ciento de todos los pacientes estudiados tiene algún tipo de variante genética que repercute sobre la forma en la que su cuerpo procesa medicamentos comunes.
- Con la Farmacogenómica. Son pruebas de ADN que se le realizan a los pacientes para determinar si sus genes repercuten sobre el funcionamiento de los medicamentos. Las pruebas pueden mostrar si nuestros genes pueden procesar los fármacos de manera que no nos provoquen efectos secundarios nocivos o no funcionen como deberían.
- Mejores exámenes de diagnóstico para cáncer y otras enfermedades. Pruebas moleculares como análisis prenatales, y la valoración del riesgo para cáncer y diagnóstico de algunos trastornos neurológicos pueden ayudar a los pacientes a entender mejor la salud y la enfermedad. Los análisis también pueden servir para precisar las terapias dirigidas.
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La medicina de precisión en el 2017: El exoma es la parte del genoma (conjunto de moléculas de DNA) formado por los exones, los fragmentos de DNA que se transcriben para dar lugar a las proteínas.
Pruebas de ADN, conocidas como análisis de todo el exoma. En 3 de cada 10 casos, las pruebas de este tipo logran descubrir el diagnóstico de una enfermedad misteriosa o rara. Se puede administrar un nuevo ciclo de tratamiento; si no hay respuesta, se remite el caso para más investigación.
4. Secuenciación del ADN del paciente Esto permite a los pacientes ver su mapa genético a fin de entender mejor los cambios en sus genes, el riesgo para enfermedades y las aplicaciones de las terapias dirigidas.
El costo para el paciente continúa bajando y los resultados pueden usarse durante toda la vida de la persona.
La Medicina de Precisión y la importancia de detectar el gen y la mutación que causan la enfermedad
Saber qué gen está mutado en cada paciente da una confirmación genética al diagnóstico clínico realizado por el médico. Esto permite el consejo genético de una enfermedad hereditaria.
Pero cada vez más, y se cree que en un futuro no muy lejano será así. Los fármacos utilizados para tratar ciertas enfermedades genéticas van a ir relacionados con el gen mutado, el tipo de mutación, así como con la presentación clínica del paciente.
“La visión que tenemos en el Centro para Medicina Personalizada es ofrecer a todos los pacientes de Mayo una terapia informada en la genómica.
Vemos el valor que en última instancia tendría la secuenciación del genoma de todas las personas, porque eso conllevaría el efecto neto de identificar enfermedades no diagnosticadas. Además, ofrecer alternativas para prevenir afecciones hereditarias y mejorar la exactitud del diagnóstico y de la elección de fármacos.
Esto, derivaría en mejores cuidados al paciente y menos costo por atención médica”, comenta el Dr. Keith Stewart, médico que se desempeña como director dotado Carlson y Nelson en el Centro para Medicina Personalizada de Mayo Clinic.
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