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<meta property="og:updated_time" content="Wed, 05/22/2024 - 14:01" />
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<h1 class="page-title">Investigadores Identifican 275 Millones de Variantes Genéticas Nuevas con Información de Medicina de Precisión de los NIH </h1>
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<p>El Taller Digital de Investigación Científica de <em>All of Us</em> pone casi 250,000 secuencias de genomas completos a disposición de los investigadores </p>
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<p>Un estudio detalla la escala, diversidad y poder sin precedentes del Programa Científico <em>All of Us</em></p>
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<p><a href="/news-events/announcements/275-million-new-genetic-variants-identified-nih-precision-medicine-data">Read in English</a></p>
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<p>Un grupo de investigadores ha descubierto más de 275 millones de variantes genéticas de las que no se había informado previamente. Estas variantes se identificaron a partir de la información compartida por casi 250,000 participantes del Programa Científico <em>All of Us </em>de los Institutos Nacionales de Salud. La mitad de la información genómica procede de participantes con ascendencia genética no europea. Estas variantes inexploradas ofrecen a los investigadores nuevas vías para comprender mejor la influencia que tiene la genética en la salud y las enfermedades, especialmente en comunidades que han quedado al margen de las investigaciones en el pasado. Los hallazgos se detallan <a href="https://www.nature.com/articles/s41586-023-06957-x">en la revista científica <em>Nature</em></a><em>*</em>, junto con otros tres artículos que aparecen en distintas publicaciones de <em>Nature</em>.</p>
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<p>De las nuevas variantes identificadas, casi cuatro millones se encuentran en áreas que podrían estar relacionadas con el riesgo de desarrollar enfermedades. La información genómica detallada en el estudio está disponible para los investigadores registrados en el <a href="https://researchallofus.org/">Taller Digital de Investigación Científica*</a>, la plataforma de análisis de datos del programa.</p>
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<p>"Como médico, he visto el impacto que la falta de diversidad en las investigaciones genómicas ha tenido en la profundización de las disparidades de salud y las limitaciones en los cuidados de los pacientes", dijo Josh Denny, M.D., M.S., director ejecutivo del Programa Científico <em>All of Us</em> y autor del estudio. "El conjunto de datos de <em>All of Us</em> ha permitido que los investigadores realicen descubrimientos que amplían lo que sabemos sobre la salud, muchos de los cuales no hubieran sido posible sin las contribuciones de ADN y otra información de salud de nuestros participantes. Su participación está marcando el rumbo hacia un futuro en el que los descubrimientos científicos sean más inclusivos y tengan mayores beneficios para todos.”</p>
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<p>Hasta la fecha, más del <a href="https://gwasdiversitymonitor.com/">90 % de los participantes en estudios genómicos de gran escala</a>* han sido personas de ascendencia genética europea. Los directores de los institutos y centros de los NIH señalaron en un artículo de opinión publicado en <a href="https://www.nature.com/articles/s41591-023-02744-3"><em>Nature Medicine</em></a><em>*</em> que esto ha llevado a una comprensión limitada de la biología de las enfermedades y ha impedido el desarrollo de nuevos tratamientos y estrategias de prevención para todas las poblaciones. Destacan que muchos investigadores están utilizando ahora el conjunto de datos de <em>All of Us</em> para avanzar en la medicina de precisión para todos.</p>
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<p>Por ejemplo, en un estudio complementario publicado en la revista <em>Communications Biology</em>, un equipo de investigadores dirigido por el Baylor College of Medicine de Houston revisó la frecuencia de genes y variantes recomendados por el <a href="https://doi.org/10.1038/gim.2016.190">American College of Medical Genetics and Genomics</a>* en distintos grupos de ascendencia genética. Estos genes y variantes son similares a los que aparecen en los resultados de <a href="https://www.joinallofus.org/es/what-participants-receive/hereditary-disease-risk">Riesgo de desarrollar enfermedades hereditarias</a> que el programa ofrece a los participantes. Los autores hallaron una variabilidad significativa en la frecuencia de variantes asociadas al riesgo de desarrollar enfermedades entre distintos grupos de ascendencia genética y en comparación con otros grandes conjuntos de datos genómicos.</p>
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<p>Aunque es necesario seguir investigando antes de poder utilizar estos resultados para adaptar las recomendaciones de pruebas genéticas a poblaciones específicas, los investigadores creen que la diferencia en el número de variantes causantes de enfermedades puede verse influida por la limitada diversidad de estudios anteriores y su enfoque centrado en las enfermedades a la hora de inscribir a los participantes, más que por una diferencia en la prevalencia de variantes causantes de enfermedades.</p>
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<p><a href="https://www.nature.com/articles/s41591-024-02796-z ">En otro estudio</a>, los investigadores utilizaron el conjunto de datos de <em>All of Us </em>para calibrar y aplicar diez puntuaciones de riesgo poligénico de enfermedades comunes a grupos de ascendencia genética<em> </em>diversa. Estas puntuaciones calculan el riesgo de enfermedad de un individuo teniendo en cuenta factores genéticos y antecedentes familiares. Al no tener en cuenta la diversidad, las puntuaciones de riesgo poligénico podrían causar resultados falsos no representativos del riesgo de una persona de desarrollar una enfermedad y provocar la creación de herramientas genéticas no equitativas. Sin la diversidad de la información de <em>All of Us</em>, estas puntuaciones de riesgo poligénico solo habrían sido aplicables a una parte de la población.</p>
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<p>"<em>All of Us </em>valora involucrar de manera consciente a las comunidades para garantizar que las poblaciones históricamente subrepresentadas en las investigaciones biomédicas también puedan beneficiarse de los descubrimientos científicos del futuro", declaró Karriem Watson, doctor en Ciencias Humanas, máster en Ciencias, máster en Salud Pública y director de participación del Programa Científico<em> All of Us</em>. "Esto empieza por concientizar y mejorar el acceso a las investigaciones médicas para que todo el mundo tenga la oportunidad de participar".</p>
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<p>Hasta la fecha, más de 750,000 personas se han inscrito en <em>All of Us</em>. En última instancia, el programa prevé la participación de al menos un millón de personas que reflejen la diversidad de Estados Unidos y aporten información de ADN, registros electrónicos de salud, dispositivos portátiles, encuestas y más información a lo largo del tiempo. El programa amplía y actualiza periódicamente el conjunto de datos a medida que más participantes comparten información. </p>
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<p>Para saber más sobre los recursos científicos de <em>All of Us</em>, visite <a href="http://researchallofus.org/">researchallofus.org</a>*.</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>Acerca del Programa Científico <em>All of Us</em>: </strong>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 colaborará con un millón o más de personas de todo Estados Unidos para crear el recurso de datos biomédicos más diverso de su tipo, con el fin de ayudar a los investigadores científicos a conocer mejor los factores biológicos, ambientales y de comportamiento que influyen en la salud. Para más información, visite <a href="https://www.ResearchAllofUs.org">www.ResearchAllofUs.org</a>* <a href="http://www.joinallofus.org/es">www.JoinAllofUs.org/es,</a> y <a href="https://www.allofus.nih.gov">www.allofus.nih.gov</a>*</p>
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