{"id":30392,"date":"2022-08-02T10:01:42","date_gmt":"2022-08-02T15:01:42","guid":{"rendered":"https:\/\/saluddigital.com\/?p=30392"},"modified":"2025-10-20T11:25:27","modified_gmt":"2025-10-20T17:25:27","slug":"sistema-automatizado-apoya-en-el-diagnostico-de-enfermedades-geneticas","status":"publish","type":"post","link":"https:\/\/saluddigital.com\/en\/noticias\/sistema-automatizado-apoya-en-el-diagnostico-de-enfermedades-geneticas\/","title":{"rendered":"Automated system supports the diagnosis of genetic diseases"},"content":{"rendered":"
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Researchers in genomics showed the findings of an automated virtual system for the diagnosis of genetic diseases in 13.5 hours.<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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Genetic diseases are always a special case because front-line doctors may not be familiar with them, so early diagnosis may not improve outcomes. If treatments are not implemented quickly, these diseases can progress rapidly to severe morbidity or mortality.<\/p>

An investigation published in Nature Communications<\/em> explored the use of Genome-to-Treatment also known as GTRx, an automated virtual system for genetic disease diagnosis and acute management guidance. The main element of this research was that, using the automated virtual platform, it was possible to make a diagnosis in 13.5 hours by means of accelerated whole genome sequencing.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Currently, 72,000 genetic disorders are known that account for a large proportion of pediatric morbidity and mortality, especially in intensive care, neonatal, pediatric and cardiovascular units. Furthermore, it is estimated that about 30% of the 140 million infants with rare genetic diseases do not survive to their fifth birthday. Therefore, the importance of an accurate and rapid diagnosis that allows treatment to be implemented as soon as possible.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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\u201cLack of familiarity with the management of specific rare genetic diseases leads to delays in consultation and missed treatment opportunities that defeat the goal of rapid diagnosis. GTRx was developed both to increase the proportion of infants receiving optimal immediate treatment and to facilitate wider use of rapid diagnostic whole genome sequencing (rWGS), such as in local maternity hospitals staffed by front-line neonatologists. \u201d, explains the study.<\/p>

The GTRx is a prototype system that uses 13.5 hours to perform automated diagnoses of genetic diseases, its main goal was to expand the use of rWGS by frontline clinicians who understand critically ill infants and children in ICUs.<\/p>

However, it currently covers 500 genetic diseases with the characteristic that they progress rapidly, and your goal is to foresee the extension of the system to all known genetic diseases, \u201cwhich will allow front-line doctors to play a much more active role. in the evaluation of possible genetic etiologies and their consequent therapies in their patients\u201d, according to the authors of the study.<\/p>

Learn more about Genome-to-Treatment: https:\/\/www.nature.com\/articles\/s41467-022-31446-6<\/a><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t BIBLIOGRAPHY<\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t

NATURE<\/strong><\/p>

https:\/\/www.nature.com\/articles\/s41467-022-31446-6<\/a><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

Investigadores en gen\u00f3mica mostraron los hallazgos de un sistema virtual automatizado para el diagn\u00f3stico de enfermedades gen\u00e9ticas en 13.5 horas. Las enfermedades gen\u00e9ticas son siempre un caso especial debido a que los m\u00e9dicos de primera l\u00ednea pueden no estar familiarizados con estas, por lo que un diagn\u00f3stico oportuno puede no mejorar los resultados. Si los tratamientos no se implementan r\u00e1pidamente estas enfermedades pueden progresar de manera acelerado a una mortalidad o morbilidad severa. Una investigaci\u00f3n publicada en Nature Communications explor\u00f3 el uso de Genome-to-Treatment tambi\u00e9n conocido como GTRx, un sistema virtual automatizado para el diagn\u00f3stico de enfermedades gen\u00e9ticas y orientaci\u00f3n para el manejo agudo. El principal elemento de esta investigaci\u00f3n fue que, utilizando la plataforma virtual automatizada, fue posible realizar un diagn\u00f3stico en 13.5 horas por medio de secuenciaci\u00f3n acelerada de genoma completo. Actualmente se conocen 72 mil trastornos gen\u00e9ticos que cuentan con una gran proporci\u00f3n de morbilidad y mortalidad pedi\u00e1trica especialmente en unidades de cuidados intensivos, neonatales, pedi\u00e1tricas y cardiovasculares. Adem\u00e1s, se estima que alrededor del 30% de los 140 millones de infantes que padecen enfermedades gen\u00e9ticas raras no sobrevivan hasta su quinto cumplea\u00f1os. Por ello la importancia de un diagn\u00f3stico acertado y r\u00e1pido que permita implementar el tratamiento lo m\u00e1s pronto posible. \u201cLa falta de familiaridad con el manejo de enfermedades gen\u00e9ticas raras espec\u00edficas conduce a retrasos en la consulta y a la p\u00e9rdida de oportunidades de tratamiento que anulan el objetivo del diagn\u00f3stico r\u00e1pido. GTRx se desarroll\u00f3 tanto para aumentar la proporci\u00f3n de ni\u00f1os que reciben un tratamiento inmediato \u00f3ptimo como para facilitar un uso m\u00e1s amplio de la secuenciaci\u00f3n del genoma completo de diagn\u00f3stico r\u00e1pido (rWGS), como en los hospitales locales de maternidad con personal de neonat\u00f3logos de primera l\u00ednea\u201d, explica el estudio. El GTRx es un sistema prototipo que utiliza 13.5 horas para realizar diagn\u00f3sticos automatizados de enfermedades gen\u00e9ticas, su principal objetivo fue ampliar el uso de rWGS por parte de m\u00e9dicos de primera l\u00ednea que entienden a beb\u00e9s y ni\u00f1os gravemente enfermos en UCI. Sin embargo, actualmente abarca 500 enfermedades gen\u00e9ticas con la caracter\u00edstica de que progresan de manera acelerado, y tu objetivo es prever la extensi\u00f3n del sistema a todas las enfermedades gen\u00e9ticas conocidas, “lo que permitir\u00e1 a los m\u00e9dicos de primera l\u00ednea desempe\u00f1ar un papel mucho m\u00e1s activo en la evaluaci\u00f3n de posibles etiolog\u00edas gen\u00e9ticas y sus consiguientes terapias en sus pacientes”, seg\u00fan explican los autores del estudio. Conoce m\u00e1s sobre Genome-to-Treatment: https:\/\/www.nature.com\/articles\/s41467-022-31446-6 BIBLIOGRAF\u00cdA NATURE https:\/\/www.nature.com\/articles\/s41467-022-31446-6<\/p>","protected":false},"author":1,"featured_media":30412,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3400,160,3396],"tags":[145],"class_list":["post-30392","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-diagnostico","category-noticias","category-uso-de-plataformas-digitales","tag-noticias"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts\/30392","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/comments?post=30392"}],"version-history":[{"count":0,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/posts\/30392\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/media\/30412"}],"wp:attachment":[{"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/media?parent=30392"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/categories?post=30392"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/saluddigital.com\/en\/wp-json\/wp\/v2\/tags?post=30392"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}