1479 lines
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1479 lines
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<h1 class="page-title">Explorando las puntuaciones de riesgo poligénico usando All of Us</h1>
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<img src="/sites/default/files/24-0290%20AoU%20Research%20Highlight%20Graphics%20June%202024_dev9_highlightSP_1980x855px.png" width="1980" height="855" alt="Personas de distinta edad, género y raza están delante de una doble hélice de ADN. Hay un mapa del mundo de fondo. Un texto dice: “La información diversa de ADN amplía las puntuaciones de riesgo sobre enfermedades a personas de más orígenes genéticos”, arriba del logo del Programa Científico All of Us. Fuente: “Selección, optimización y validación de puntajes de riesgo poligénico de 10 enfermedades crónicas, para implementación clínica en poblaciones diversas de Estados Unidos”. Revista “Nature Medicine”. " loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<h2><strong>Puntos clave</strong></h2>
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<li><span><span><span lang="es-419"><span>Los proveedores de cuidado de salud esperan usar las puntuaciones de riesgo poligénico para ayudar a determinar si usted corre riesgo de desarrollar una enfermedad que puede ser difícil de predecir.</span></span></span></span></li>
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<li><span><span><span lang="es-419"><span>Actualmente, la mayoría de las puntuaciones de riesgo poligénico son más precisas para las personas de origen europeo que para las de otros orígenes.</span></span></span></span></li>
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<li><span lang="es-419"><span><span>Los </span></span></span><span><span><span><span>investigadores científicos</span></span></span></span><span lang="es-419"><span><span> usaron datos de <em>All of Us</em> para ajustar las puntuaciones de riesgo poligénico de 10 enfermedades comunes, para que esos puntajes fueran más precisos para los individuos de orígenes diferentes.</span></span></span></li>
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<p><span><span><span lang="es-419">Los </span></span></span>investigadores científicos<span><span><span lang="es-419"> están desarrollando una herramienta que pueda usar el ADN de una persona para determinar el riesgo que tiene de desarrollar problemas complejos de salud.</span></span></span></p>
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<p><span><span><span lang="es-419">Esta herramienta se llama </span><a href="https://www.genome.gov/es/Health/Genomics-and-Medicine/Puntuaciones-de-Riesgo-Polig%C3%A9nico"><span lang="es-419"><span>puntuación de riesgo poligénico</span></span></a><span lang="es-419">. “Poli” significa “muchos”, y “génico” significa “relacionado con los genes”.<strong> Las puntuaciones de riesgo poligénico son medidas sobre qué tan probable es que usted desarrolle problemas específicos de salud, sobre la base de cambios en múltiples genes de su ADN.</strong></span></span></span></p>
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<p><span><span><span lang="es-419">Hasta ahora, estas puntuaciones funcionan mejor estimando el riesgo para las personas de origen europeo que para las personas de otros perfiles. <strong>Pero los investigadores científicos fueron capaces de usar la información genética diversa de <em>All of Us</em> para ajustar las puntuaciones de 10 problemas comunes de salud, para que fueran precisas en personas de diferentes orígenes.</strong> Este estudio fue publicado en la revista científica </span><a href="https://www.nature.com/articles/s41591-024-02796-z"><em><span lang="es-419"><span>Nature Medicine</span></span></em></a><span lang="es-419"> (en inglés).</span></span></span></p>
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<h2><span><span><span><span><span lang="es-419"><span><span>La importancia de las puntuaciones de riesgo poligénico</span></span></span></span></span></span></span></h2>
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<p><span><span><span lang="es-419">La </span><a href="https://medlineplus.gov/spanish/genetica/entender/variantesytrastornos/variantescausanenfermedad/"><span lang="es-419"><span>causa genética</span></span></a><span lang="es-419"> de algunos problemas de salud normalmente es clara: están cercanamente vinculados a cambios (o variantes) en un gen en particular. Por ejemplo, las variantes del gen <em>CFTR</em> son la principal causa de la </span><a href="https://medlineplus.gov/spanish/cysticfibrosis.html"><span lang="es-419"><span>fibrosis quística</span></span></a><span lang="es-419">. Los proveedores de cuidado de salud pueden a menudo usar pruebas genéticas para averiguar si alguien tiene estos tipos de enfermedades.</span></span></span></p>
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<p><span><span><span lang="es-419">Sin embargo, problemas comunes y complejos de salud, como la </span><a href="https://medlineplus.gov/spanish/diabetestype2.html"><span lang="es-419"><span>diabetes tipo 2</span></span></a><span lang="es-419">, son producto de una combinación de factores. Estos incluyen factores sociales y del entorno, además de cambios que afectan a cientos o miles de genes. Estas enfermedades complejas son más difíciles de predecir. Las puntuaciones de riesgo poligénico pueden descubrir el componente genético del riesgo que una persona tiene de desarrollar este tipo de problemas de salud.</span></span></span></p>
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<p><span><span><span lang="es-419">Averiguar tempranamente sobre su riesgo de desarrollar un problema de salud le permite a usted tomar medidas para controlarlo o prevenirlo antes de que se convierta en un problema grave.</span></span></span></p>
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<h2><span><span><span><span><span lang="es-419"><span><span>Ajustando las puntuaciones de riesgo</span></span></span></span></span></span></span></h2>
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<p><span><span><span lang="es-419">Para calcular las puntuaciones de riesgo poligénico, los investigadores científicos comparan el ADN de muchas personas, algunas con el problema de salud, otros sin la enfermedad. Al principio, la mayoría de la información de ADN usada para estos cálculos era de personas de origen europeo, por lo que estas puntuaciones eran más útiles para personas de ese perfil.</span></span></span></p>
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<p><span><span><span lang="es-419">Sin embargo, los investigadores científicos quieren estar seguros de que las puntuaciones serán precisas para las personas de cualquier procedencia genética. En este estudio, comenzaron con las puntuaciones de riesgo de 10 problemas complejos de salud:</span></span></span></p>
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<ul>
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<li><span><span><span lang="es-419">anormalidades del latido del corazón (fibrilación auricular)</span></span></span></li>
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<li><span><span><span lang="es-419">asma</span></span></span></li>
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<li><span><span><span lang="es-419">cáncer de próstata</span></span></span></li>
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<li><span><span><span lang="es-419">cáncer de seno </span><span lang="es-419">(cáncer de mama)</span></span></span></li>
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<li><span><span><span lang="es-419">colesterol alto (hipercolesterolemia)</span></span></span></li>
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<li><span><span><span lang="es-419">diabetes tipo 1</span></span></span></li>
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<li><span><span><span lang="es-419"><span>diabetes tipo </span></span><span lang="es-419"><span>2</span></span></span></span></li>
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<li><span><span><span lang="es-419">enfermedad crónica de los riñones</span></span></span></li>
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<li><span><span><span lang="es-419">enfermedad de las arterias coronarias</span></span></span></li>
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<li><span><span><span lang="es-419">obesidad</span></span></span></li>
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</ul>
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<p><span><span><span lang="es-419"><span>Analizando la información de salud y el <strong>ADN compartidos por más de 13,000 participantes de <em>All of Us</em></strong>, los </span></span><span><span>investigadores científicos</span></span><span lang="es-419"><span> ajustaron las puntuaciones de riesgo poligénico para que pudieran estimar con precisión el riesgo en personas de muchas procedencias genéticas.</span></span></span></span></p>
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<h2><span><span><span><span><span lang="es-419"><span><span>Integrando las puntuaciones de riesgo poligénico al cuidado de salud</span></span></span></span></span></span></span></h2>
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<p><span><span><span lang="es-419">Los investigadores científicos de este estudio también desarrollaron y probaron un proceso para compartir las puntuaciones de riesgo poligénico con los pacientes. Aunque estas puntuaciones aún no son usadas en los consultorios de los médicos, <strong>este trabajo ayuda a que las puntuaciones de riesgo poligénico estén más cerca de ser usadas en el cuidado de salud en el futuro.</strong></span></span></span></p>
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<p><span><span><span lang="es-419">Mientras <em>All of Us</em> y otros conjuntos de datos continúen creciendo, los investigadores científicos podrán ser capaces de ajustar las puntuaciones de riesgo poligénico a más problemas de salud. Con información genética más diversa, estas puntuaciones serán más precisas para cualquier paciente, sin importar su origen. <strong>Unas puntuaciones de riesgo poligénico que funcionen para individuos de perfiles diversos de vida pueden ayudar a reducir las diferencias de salud entre las poblaciones. Esas puntuaciones significarán que todos tendrán acceso a información precisa sobre su salud.</strong></span></span></span></p>
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