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<li class="breadcrumb-item active is-active" aria-current="page">El Programa Científico <em class="aou-text px-1">All of Us</em> publica casi 250,000 secuencias del genoma completo para impulsar la medicina de precisión </li>
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<h1 class="page-title">El Programa Científico All of Us publica casi 250,000 secuencias del genoma completo para impulsar la medicina de precisión </h1>
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April 20, 2023
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<img src="/sites/default/files/23-0175%20AoU%20Photo-DrGretchenShreveport_900x900px%20copy%20SP.jpg" width="900" height="900" alt="Médico toma notas en un centro de salud" loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<p>El conjunto de datos genómicos es el más grande y diverso del mundo e incluye otros datos importantes</p>
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<p>El <a href="https://www.joinallofus.org/es">Programa Científico <em>All of Us</em></a> de los Institutos Nacionales de la Salud ha ampliado significativamente sus datos, los cuales ahora incluyen casi un cuarto de millón de secuencias de genomas completos que se podrán usar en investigaciones científicas. Alrededor del 45 % de los datos fueron donados por personas que se autoidentifican con un grupo racial o étnico históricamente subrepresentado en las investigaciones médicas. Esta ampliación proporciona a los investigadores científicos registrados acceso al conjunto de datos más grande y diverso de su tipo en el mundo, lo cual ayudará el avance de la equidad de la salud y a descubrir enfoques de atención médica mejor adaptados a los genes, estilos de vida y entornos de las personas.</p>
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<p>"Cuando <em>All of Us</em> inició el proceso de inscripción nacional hace cinco años, estábamos entusiasmados con la promesa de cómo podríamos avanzar la investigación de salud," dijo Josh Denny, M.D., M.S., director ejecutivo del Programa Científico <em>All of</em> <em>Us</em>. "Ahora, por medio de la colaboración con participantes, investigadores científicos y comunidades diversas de todo el país, estamos viendo un progreso increíble para hacer posibles descubrimientos científicos que pueden conducir a un futuro más saludable para todos."</p>
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<p>En total, el conjunto de datos ampliado proporciona a los investigadores científicos información de más de 413,450 participantes. Además de las secuencias del genoma completo, este recurso también incluye datos procedentes de encuestas, registros electrónicos de salud, medidas físicas y dispositivos Fitbit. Los datos de los dispositivos Fitbit incluirán ahora información sobre el sueño, además de la actividad, el recuento de pasos y la frecuencia cardiaca. Los datos del sueño, cuando se utilizan junto con los datos de los registros electrónicos de salud de los participantes, podrían ser útiles para estudiar cómo los patrones de sueño afectan la salud en general y la progresión de ciertas enfermedades, como las cardiopatías, la hipertensión, la diabetes, la depresión y la demencia. </p>
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<p>El programa también ha publicado más de 1,000 genomas secuenciados de lectura larga. Las secuencias de lectura larga son un nuevo tipo de datos que pueden proporcionar una imagen más completa del genoma. En el <a href="https://www.researchallofus.org/?utm_source=nih&utm_medium=blog&utm_campaign=April-news-release">Taller Digital de Investigación Científica</a> (en inglés), que es la plataforma de análisis de datos segura y basada en la nube del programa, los investigadores científicos registrados pueden utilizar estos datos para estudiar la variación genética y, potencialmente, identificar variantes genéticas vinculadas a determinadas enfermedades. El acceso al Taller Digital de Investigación Científica está abierto a los investigadores científicos de las organizaciones elegibles después de que completen una capacitación especial, así como otros requisitos.</p>
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<p>"Durante años, la falta de diversidad en los conjuntos de datos genómicos ha limitado nuestra comprensión de la salud humana," dijo Andrea Ramirez, M.D., M.S., directora de datos del Programa Científico <em>All of Us</em>. "Al contar con participantes de orígenes diversos y compartir una imagen más completa de sus vidas por medio de los datos genómicos, de estilo de vida, clínicos y del entorno social, <em>All of</em> <em>Us</em> facilita que los investigadores científicos puedan identificar mejor los factores que impulsan las enfermedades."</p>
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<p>El amplio conjunto de datos del programa también permite a los investigadores científicos definir mejor importantes riesgos genéticos de enfermedades. Sólo el conjunto de datos de la secuencia del genoma completo incluye variaciones en más de mil millones de ubicaciones, lo que equivale a casi un tercio de todo el genoma humano. Estas pequeñas variaciones genéticas podrían ofrecer pistas importantes para desarrollar marcadores predictivos del riesgo de enfermedad o explicar las diferencias en la eficacia de determinados medicamentos para distintas personas.</p>
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<p>Los datos genómicos también se utilizan para elaborar <a href="https://www.joinallofus.org/es/what-participants-receive">resultados de ADN relacionados con la salud personalizados</a> de los participantes. Hasta ahora, más de 25,000 participantes han solicitado recibir uno o varios de estos informes en los que se detalla si tienen un mayor riesgo de padecer enfermedades específicas o cómo determinados medicamentos podrían ser procesados por su organismo. Estos resultados de ADN relacionados con la salud forman parte del compromiso del programa de compartir información y entregar valor añadido a los participantes, al mismo tiempo que sus datos se ponen a disposición de las investigaciones científicas.</p>
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<p>Más de 5,000 investigadores se han registrado para utilizar el Taller Digital de Investigación Científica de <em>All of Us</em>. Los investigadores científicos registrados tienen acceso a un conjunto ampliado de herramientas para trabajar con los tipos de datos disponibles. Además, hay <a href="https://support.researchallofus.org/hc/en-us/articles/360059633052-Featured-Workspaces-Table-of-Contents">espacios de trabajo destacados</a> (en inglés) disponibles para ofrecer a los investigadores científicos ejemplos de cómo segmentar y analizar los datos, que pueden utilizarse para poner en marcha o mejorar su trabajo.</p>
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<p>El objetivo de <em>All of Us</em> es facilitar los datos de al menos un millón de participantes en todo Estados Unidos, e involucrar a más investigadores científicos con el paso del tiempo. Para más información sobre futuras publicaciones de datos, <a href="https://www.researchallofus.org/data-tools/data-sources/">consulte la hoja de ruta recién publicada de<em> All of Us</em></a><em> </em>(en inglés)<em>.</em></p>
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<p>En <a href="https://www.joinallofus.org/es">JoinAllofUs.org/es</a> encontrará más información sobre cómo participar en este esfuerzo histórico para impulsar los avances de salud y la medicina de precisión. Visite <a href="https://www.researchallofus.org">ResearchAllofUs.org</a> (en inglés) para registrarse y utilizar el conjunto de datos de <em>All of Us</em>.</p>
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<hr>
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<p><em>All of Us</em> es una marca de servicio registrada del Departamento de Salud y Servicios Humanos de los Estados Unidos (HHS).</p>
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<p><strong><em>Acerca del Programa Científico </em>All of Us<em>: </em></strong><em>la misión del Programa Científico </em>All of Us<em> es acelerar la investigación de salud y los avances médicos, posibilitando así la prevención, el tratamiento y la atención individualizados para todos. El programa trabajará con al menos un millón de personas que reflejan la diversidad de Estados Unidos para crear uno de los recursos de datos biomédicos más grandes y diversos de su tipo. Los datos se ponen a disposición de los investigadores científicos para impulsar descubrimientos científicos sobre los factores biológicos, ambientales y de comportamiento que influyen en la salud y las enfermedades. Para más información, visita </em><a href="http://www.researchallofus.org/"><em>www.ResearchAllofUs.org,</em></a><em> </em><em><a href="https://www.joinallofus.org/es">www.JoinAllofUs.org/es</a> y </em><a href="https://allofus.nih.gov/"><em>https://www.AllofUs.nih.gov/.</em></a></p>
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