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nih-gov/allofus.nih.gov/news-events/announcements/la-iniciativa-nacional-de-medicina-de-precision-identifica-7000-nuevas-variantes-geneticas-en-busca-de-mejorar-las-pruebas-geneticas-para-todos
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<h1 class="page-title">All of Us Devuelve Resultados de ADN Relacionados con la Salud a 100,000 Participantes</h1>
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May 1, 2024
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<h2 class="node-announcement-subheader">
<p>La iniciativa nacional de medicina de precisión identifica 7,000 nuevas variantes genéticas en busca de mejorar las pruebas genéticas para todos</p>
</h2>
<p><a href="/news-events/announcements/all-us-returns-health-related-dna-results-100000-participants">Read in English</a></p>
<p>El Programa Científico <em>All of Us </em>de los Institutos Nacionales de la Salud (NIH, por sus siglas en inglés) ha entregado resultados de ADN relacionados con la salud personalizados a más de 100,000 participantes. Para lograrlo, el programa analizó un conjunto específico de genes asociados a determinadas&nbsp;<a href="https://www.joinallofus.org/es/what-participants-receive/hereditary-disease-risk">enfermedades graves</a>, como cánceres hereditarios y enfermedades cardíacas, y encontró 32,500 variantes de ADN. Más de 7,000 de estas variantes nunca se habían observado en personas que se habían sometido previamente a pruebas genéticas.</p>
<p>Esta información <span lang="ES-US"><span><span>anónima </span></span></span>se ha añadido a <a href="https://www.ncbi.nlm.nih.gov/clinvar/">ClinVar</a>, una base de datos pública (enlace en inglés). La base de datos ClinVar, administrada por el Centro Nacional para la Información Biotecnológica de la Biblioteca Nacional de Medicina de los NIH, reúne información sobre la variación genómica y su relación con la salud humana. Los proveedores de servicios de salud utilizan esta base de datos para diagnosticar y tratar enfermedades, y los investigadores la usan para identificar nuevas áreas de estudio. La entrega de esta información a ClinVar es una de las formas en que <em>All of Us </em>está teniendo un impacto significativo en la medicina de precisión. Más de 2,500 laboratorios clínicos, programas de investigación, universidades y consultorios clínicos envían información sobre variantes genéticas a ClinVar. Tras este envío de información de <em>All of Us</em> a ClinVar, el programa se posiciona entre<a href="https://www.ncbi.nlm.nih.gov/clinvar/docs/submitter_list/"> los 20 principales contribuidores</a> en cuanto a cantidad de información entregada (enlace en inglés).</p>
<p>"Al lograr que la investigación médica sea más inclusiva, aprendemos a mejorar las estrategias de prevención para más comunidades," dijo Martin Mendoza, Ph.D., director de equidad en salud del Programa Científico <em>All of Us</em>. "Al hacer que las pruebas genéticas sean más precisas y confiables, la información de nuestros participantes está ayudando a que el país dé un paso más en el avance hacia la equidad en salud".</p>
<p>El nivel de diversidad de los participantes en <em>All of Us</em> no tiene precedentes entre los grandes programas de cohortes de investigación de salud. Además, el programa es único en su compromiso y enfoque de entregar resultados de ADN relacionados con la salud personalizados a los participantes que decidan recibirlos. Si un participante decide recibir resultados de ADN relacionados con la salud personalizados, sus variantes genéticas son analizadas por genetistas moleculares clínicos especialmente capacitados en uno de los laboratorios de validación clínica del programa. Estos científicos revisan sistemáticamente los informes de casos publicados, los estudios de genética funcional y las bases de datos poblacionales para determinar si las variantes de un participante podrían aumentar su riesgo de desarrollar una enfermedad. <em>All of Us</em><a href="https://allofus.nih.gov/news-events/research-highlights/allofus-meets-fda-standards-dna-results-delivery"><em> </em></a><a href="https://allofus.nih.gov/news-events/investigaciones-destacadas/allofus-cumple-est%C3%A1ndares-fda-entrega-resultados-ADN">colaboró con la Administración de Alimentos y Medicamentos</a> (FDA, por sus siglas en inglés) para garantizar que este proceso cumpliera con estrictas normas de precisión y exactitud.</p>
<p>"El proceso de entrega de información <span lang="es"><span><span>procesable </span></span></span>a los participantes de <em>All of Us </em>se ha utilizado para ayudar también a mejorar las pruebas de medicina genómica y la investigación en todo el mundo", dijo Heidi Rehm, Ph.D., investigadora principal del <a href="https://allofus.nih.gov/funding-and-program-partners/genomics-partners">Centro Genómico de <em>All of Us</em></a> en el Instituto Broad del MIT y Harvard, en Boston (enlace en inglés). "Este intercambio de información marcará la diferencia tanto en la vida de los participantes como en la de los pacientes de todo el mundo".</p>
<p>Ya se ha invitado a más de 230,000 participantes a recibir resultados de ADN relacionados con la salud, y el programa sigue invitando a entre 1,000 y 5,000 personas cada semana a ver sus resultados. Al entregar esta información a los participantes, <em>All of Us</em> busca devolver valor a los participantes en su papel como colaboradores del programa de investigación científica. Los que aún estén esperando sus resultados recibirán información sobre los siguientes pasos del programa en los próximos meses.</p>
<p><em>All of Us</em> trabaja con una amplia red de colaboradores de todo el país para inscribir participantes, obtener su información y entregar resultados de ADN. Casi 790,000 personas se han unido a <em>All of Us</em> para contribuir a este esfuerzo de investigación científica. Los participantes pueden compartir información a partir de muestras biológicas, encuestas, medidas físicas, registros electrónicos de salud y dispositivos portátiles. Este conjunto exhaustivo de información se pone a disposición de los investigadores científicos registrados a través del Taller Digital de Investigación Científica del programa para ayudar a estimular los descubrimientos de la investigación biomédica y, en última instancia, fomentar la equidad en la salud.</p>
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