1468 lines
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1468 lines
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<img src="/sites/default/files/24-0402%20AoU%20Research%20Highlight%20Graphics%20September%202024_dev6_highlightSP_1980x855px.png" width="1980" height="855" alt="Una ilustración muestra a dos pacientes, un hombre y una mujer, con mascarillas médicas, sentados en sofás y recibiendo quimioterapia a través de tubos intravenosos desde dos bolsas de suero que cuelgan de pedestales, mientras una enfermera los monitorea. Un texto dice: “Un descubrimiento genético mejora la medicina de precisión para ciertos tratamientos contra el cáncer”. Hay una hélice de ADN en el fondo, detrás de los pacientes. El logo de All of Us está abajo a la izquierda. " loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<h2><strong>Puntos clave</strong></h2>
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<li>Los cambios o <a href="https://medlineplus.gov/spanish/genetica/entender/investigaciongenomica/farmacogenomica/">variantes en el ADN</a> pueden afectar cómo los medicamentos contra el cáncer (quimioterapias) funcionan para las personas.</li>
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<li><a href="https://medlineplus.gov/spanish/genetica/entender/pruebas/pruebasgeneticas/">Una prueba de ADN</a> ayuda a determinar cuánta quimioterapia darle a una persona con cáncer.</li>
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<li>Los investigadores de <em>All of Us</em> descubrieron que una prueba de ADN usada para la quimioterapia podría no funcionar como se esperaba.</li>
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<h2>En pocas palabras</h2>
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<p><strong>Gracias a la información de los participantes de <em>All of Us</em>, las pruebas de ADN usadas en ciertas quimioterapias podrían ser más confiables.</strong></p>
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<p>Actualmente existen más de cien quimioterapias para tratar el cáncer. Para cada paciente, los proveedores de cuidado de salud deben decidir qué quimioterapia usar y qué dosis. Una dosis muy alta puede ser peligrosa, y una dosis muy baja podría no funcionar.</p>
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<p>Los proveedores del cuidado de salud analizan las variantes del gen <em>DPYD</em> antes de recetar dos quimioterapias comunes. <strong>Los descubrimientos de un proyecto que analizó la información de <em>All of Us</em> ayudaron a crear una nueva recomendación para las pruebas del gen <em>DPYD</em> para el uso de quimioterapias.</strong> Los resultados fueron publicados en la revista <a href="https://pubmed.ncbi.nlm.nih.gov/38129972/"><em>Clinical and Translational Science</em></a> (en inglés).</p>
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<h2>El gen <em>DPYD</em> y el tratamiento contra el cáncer</h2>
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<p>Muchas variantes del gen <em>DPYD</em> pueden afectar cómo una persona reacciona a las quimioterapias llamadas 5-fluorouracilo (5-FU) y capecitabina. Este estudio analizó dos variantes específicas del gen <em>DPYD</em>.</p>
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<p>Una de las dos variantes está “activa”. Esto afecta cómo el cuerpo reacciona a la quimioterapia. Si alguien tiene esta variante activa, esa persona es más sensible al medicamento. Recibir la dosis típica podría ser peligroso. Por consiguiente, un proveedor de atención médica le daría a esa persona una dosis más baja para tratar su cáncer de forma segura.</p>
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<p>Debido a que la variante activa es difícil de analizar mediante una prueba, muchos laboratorios analizan una variante alternativa en el mismo gen. Esta variante es fácil de detectar con pruebas comunes de ADN. Sin embargo, no afecta cómo el cuerpo reacciona a la quimioterapia. Los laboratorios usan la variante alternativa para representar la presencia de la variante activa, debido a que investigaciones científicas anteriores demostraron que siempre están presentes juntas.</p>
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<p><strong>Sin embargo, este estudio de investigación demostró que las dos variantes no siempre están presentes juntas.</strong> Los investigadores averiguaron sobre un paciente de hospital que tenía una variante alternativa pero <em>no</em> la variante activa. <strong>Para averiguar qué tan común es que estas variantes existan separadamente, los investigadores científicos acudieron a <em>All of Us.</em></strong></p>
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<h2>La información de <em><em>All of Us</em></em> revela casos raros</h2>
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<p>Los investigadores científicos analizaron la información de ADN de más de 245,000 participantes de <em>All of Us</em>. <strong>Encontraron a otras catorce personas que tenían la variante del gen <em>DPYD</em>, pero no la variante activa.</strong></p>
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<p>Tener solo una de las dos variantes del gen <em>DPYD </em>es raro, pero es muy importante para las personas que tienen estos casos. Si la prueba que se les hace sólo analiza la variante alternativa, podrían recibir una dosis más baja de quimioterapia. Pero debido a que no tienen la variante activa, podrían en cambio poder tolerar la dosis regular, que podría ser mejor para tratar el cáncer.</p>
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<p><strong>En respuesta a este estudio, los expertos cambiaron las </strong><a href="https://cpicpgx.org/guidelines/guideline-for-fluoropyrimidines-and-dpyd/"><strong>recomendaciones</strong></a><strong> (en inglés) que los proveedores de cuidado de salud siguen para las pruebas del gen <em>DPYD</em> para uso en quimioterapias.</strong> La recomendación ahora sugiere que los laboratorios analicen directamente la variante activa del gen<em> DPYD</em>. Y si sólo hacen pruebas sobre la variante alternativa, necesitan informarles a los pacientes.</p>
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<p>Este estudio es una muestra del poder de la información de <em>All of Us</em> para el desarrollo de las investigaciones sobre la medicina de precisión. <em>All of Us</em> tiene uno de los conjuntos de datos de su tipo más grandes de genómica para la investigación de salud. <strong>Debido a que muchos participantes han compartido muestras biológicas para generar información de ADN, los investigadores científicos pueden descubrir situaciones poco comunes como esta.</strong></p>
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<p>Aún hay más que aprender sobre los cambios de ADN que impactan a los tratamientos médicos, y <em>All of Us</em> puede ayudar.</p>
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Explorando las puntuaciones de riesgo poligénico usando <em class="aou-text">All of Us</em>
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