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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 el primer conjunto de datos genómicos de casi 100,000 secuencias del genoma completo</li>
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<h1 class="page-title">El Programa Científico All of Us publica el primer conjunto de datos genómicos de casi 100,000 secuencias del genoma completo</h1>
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March 17, 2022
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<p><em>All of Us</em> pone datos genómicos a disposición de científicos de todas partes de los Estados Unidos (Crédito de la foto: NIH)</p>
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<p>Las contribuciones de este grupo diverso de participantes cambiará el panorama de la investigación genómica</p>
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<p><a href="/news-events/announcements/program-releases-first-genomic-dataset">In English</a></p>
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<p>Aproximadamente 100,000 secuencias del genoma completo sumamente diversas ya están disponibles a través del Programa Científico <em>All of Us</em> de los Institutos Nacionales de la Salud (NIH, por sus siglas en inglés). Alrededor del 50 % de estos datos provienen de personas que se identifican con grupos raciales o étnicos que históricamente han estado subrepresentados en la investigación científica. Esta información permitirá a los investigadores científicos abordar preguntas que aún no tienen respuesta sobre la salud y la enfermedad, lo cual conducirá a nuevos avances y descubrimientos innovadores para reducir las disparidades de salud persistentes</p>
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<p>“Hasta ahora, más del 90% de los participantes de los grandes estudios genómicos han sido de ascendencia europea. La falta de diversidad en la investigación científica ha obstaculizado los descubrimientos científicos”, dijo Josh Denny, M.D., director ejecutivo del Programa Científico<em> All of Us</em>. “Con sus contribuciones, los participantes de <em>All of Us</em> lideran el proceso para alcanzar una representación más equitativo en la investigación médica. Y esto es sólo el principio. Con el tiempo, a medida que ampliemos nuestra información y agreguemos nuevas herramientas, este conjunto de datos se convertirá en un recurso indispensable para la investigación en salud”.</p>
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<p>Los datos genómicos están disponibles a través del <a href="https://www.researchallofus.org/">Taller Digital de Investigación Científica</a> de <em>All of Us,</em> una plataforma basada en la nube y también incluyen matrices de genotipado de 165,000 participantes. La secuenciación del genoma completo proporciona información sobre casi toda la composición genética de un individuo, mientras que las matrices de genotipado, el enfoque de prueba genética más utilizado, capturan un subconjunto específico del genoma.</p>
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<p>Además de los datos genómicos, el taller digital incluye información de muchos de los registros electrónicos de salud de los participantes, sus dispositivos Fitbit y sus respuestas a las encuestas del programa. La plataforma también enlaza con datos de la Encuesta sobre la Comunidad Estadounidense (ACS, por sus siglas en inglés) de la Oficina del Censo para brindar más detalles sobre las comunidades donde viven los participantes. Esta combinación de datos permitirá a los investigadores científicos comprender mejor cómo los genes pueden causar o influir en las enfermedades en el contexto de otros determinantes de la salud. El objetivo final es alcanzar estrategias más precisas para la atención de la salud para todas las poblaciones. Para proteger la privacidad de los participantes, el programa ha eliminado de los datos toda la información que podría identificar a los participantes y mantiene requisitos estrictos para los investigadores científicos que buscan obtener acceso.</p>
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<p>“Hay una profundidad y dimensionalidad únicas en la plataforma de <em>All of Us</em> que la distingue de otros recursos en este ámbito. También está diseñada con la ciencia colaborativa en mente, lo que permite a los investigadores científicos explorar temas de una manera abierta y cooperativa”, dijo Gail Jarvik, MD, Ph.D., jefa de la División de Genética Médica de la Facultad de Medicina de la Universidad de Washington, Seattle. “A medida que el taller digital evolucione, creará posibilidades casi infinitas de descubrimiento para comprender el papel de los genes y las variantes, así como de muchos otros factores que se combinan para influir en la salud y la enfermedad”.</p>
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<p>El Taller Digital de Investigación Científica es posible gracias a las generosas contribuciones de los participantes de <em>All of Us</em>. Más allá de hacer que los datos genómicos estén disponibles para las investigaciones científicas, los participantes de<em> All of Us</em> tienen la oportunidad de recibir resultados personalizados de ADN sin costo alguno para ellos. Hasta ahora, el programa ha ofrecido resultados sobre antepasados y rasgos genéticos a más de 100,000 participantes. A finales de este año, hay planes para comenzar a entregar resultados de ADN relacionados con la salud sobre el riesgo de desarrollar enfermedades hereditarias y las interacciones entre los medicamentos y los genes.</p>
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<p>Con la publicación de estos datos genómicos, <em>All of Us</em> se posiciona entre otras grandes iniciativas de investigación genómica en todo el mundo, incluido el Biobanco del Reino Unido, el Million Veteran Program y el programa Trans-Omics for Precision Medicine (TOPMed) de los Institutos Nacionales de la Salud (NIH, por sus siglas en inglés).</p>
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<p><em>All of Us</em> trabaja con un <a href="https://allofus.nih.gov/funding-and-program-partners">consorcio de colaboradores</a> (en inglés) en los Estados Unidos, incluidas organizaciones comunitarias, centros médicos y más, para ayudar a llegar a los participantes y recopilar información y muestras biológicas. El Taller Digital de Investigación Científica es administrado por el Vanderbilt University Medical Center en colaboración con el Broad Institute del MIT, Harvard y Verily. Los centros de genoma del programa generan los datos genómicos y procesan unas 5,000 muestras de participantes semanalmente. Estos centros incluyen Baylor College of Medicine, Johns Hopkins University, Broad Institute, Northwest Genomics Center de la Universidad de Washington y sus colaboradores. Color, una empresa de tecnología de la salud, trabaja con el programa para entregar resultados personalizados a los participantes sobre sus antepasados y rasgos genéticos, y los resultados genéticos relacionados con la salud que se entregarán próximamente.</p>
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<p>Para obtener más información sobre los datos y recursos de <em>All of Us</em> para investigadores científicos, o para registrarse y obtener acceso, visite <a href="https://www.researchallofus.org/">ResearchAllofUs.org</a> (en inglés). Para obtener más información sobre cómo involucrarse como participante en la investigación científica, visite <a href="https://www.joinallofus.org/es">JoinAllofUs.org/es</a>.</p>
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<p><i>All of Us</i> es una marca registrada del Departamento de Salud y Servicios Humanos de los Estados Unidos (HHS, por sus siglas en inglés)</p>
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<p>Acerca del Programa Científico <i>All of Us</i>: La misión del Programa Científico <i>All of Us</i> es acelerar la investigación de la salud y los avances médicos, permitiendo la prevención, el tratamiento y la atención individualizados para todos. El programa colaborará con un millón o más de personas en los Estados Unidos para construir el recurso de datos biomédicos más diverso de su tipo, para ayudar a los investigadores científicos a obtener más información sobre los factores biológicos, ambientales y de comportamiento que influyen en la salud. Para obtener más información, visite <a href="http://www.researchallofus.org/">www.ResearchAllofUs.org</a> (en inglés), <a href="http://www.joinallofus.org/es">www.JoinAllofUs.org/es</a>, y <a href="https://www.allofus.nih.gov/">https://www.AllofUs.nih.gov/</a> (en inglés).</p>
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