{"id":10369,"date":"2025-10-07T19:19:43","date_gmt":"2025-10-07T17:19:43","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/lapproche-genomique-premiere-peut-identifier-des-troubles-genetiques-rares-plus-tot\/"},"modified":"2025-10-07T19:19:45","modified_gmt":"2025-10-07T17:19:45","slug":"lapproche-genomique-premiere-peut-identifier-des-troubles-genetiques-rares-plus-tot","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/lapproche-genomique-premiere-peut-identifier-des-troubles-genetiques-rares-plus-tot\/","title":{"rendered":"L’approche \u00abg\u00e9nomique-premi\u00e8re\u00bb peut identifier des troubles g\u00e9n\u00e9tiques rares plus t\u00f4t"},"content":{"rendered":"
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Une approche \u00aben avant-premi\u00e8re\u00bb du d\u00e9pistage des troubles g\u00e9n\u00e9tiques rares – identifiant des variantes g\u00e9n\u00e9tiques sp\u00e9cifiques, puis \u00e9tudiant les traits et sympt\u00f4mes associ\u00e9s – peut identifier ces conditions plus t\u00f4t et plus fr\u00e9quemment que les tests g\u00e9n\u00e9tiques standard entra\u00een\u00e9s par les sympt\u00f4mes cliniques, a r\u00e9v\u00e9l\u00e9 une \u00e9tude de Geisinger.<\/p>\n

Les troubles g\u00e9n\u00e9tiques rares (RGD) affectent au moins 24 millions de personnes aux \u00c9tats-Unis, soit plus de 5% de la population totale. Le diagnostic de RGD a historiquement r\u00e9sult\u00e9 d’une approche \u00ab\u00a0ph\u00e9notype-premi\u00e8re\u00a0\u00bb, dans laquelle les personnes pr\u00e9sentant des sympt\u00f4mes cliniques sont r\u00e9f\u00e9r\u00e9es pour des tests g\u00e9n\u00e9tiques afin d’identifier une cause sous-jacente. Cette approche peut sous-estimer la pr\u00e9valence de la RGD, car les personnes pr\u00e9sentant des sympt\u00f4mes moins graves, ou aucun sympt\u00f4me, sont moins fr\u00e9quemment r\u00e9f\u00e9r\u00e9es pour les tests g\u00e9n\u00e9tiques.<\/p>\n

Pour leur \u00e9tude, l’\u00e9quipe Geisinger a d\u00e9velopp\u00e9 une liste de 2 701 RGD qui ne sont pas syst\u00e9matiquement d\u00e9pist\u00e9es au niveau de la population, puis ont cr\u00e9\u00e9 une strat\u00e9gie pour identifier les variantes de la maladie dans cette liste de g\u00e8nes au sein d’un groupe de 218 680 participants \u00e0 Mycode Community Health Initiative de Geisinger.<\/p>\n

L’\u00e9quipe de recherche a d\u00e9velopp\u00e9 et appliqu\u00e9 des m\u00e9thodes automatis\u00e9es pour comparer les r\u00e9sultats g\u00e9nomiques des participants aux diagnostics cliniques existants, qu’ils ont d\u00e9finis comme \u00abajustement diagnostique\u00bb (DXFIT). Ils ont d\u00e9couvert que 2,5% de ce groupe avait un changement g\u00e9n\u00e9tique de confiance \u00e9lev\u00e9e pour un RGD, mais l’\u00e9valuation DXFIT a r\u00e9v\u00e9l\u00e9 que la majorit\u00e9 de ces personnes n’avaient pas de preuves d’un diagnostic clinique correspondant dans leur dossier de sant\u00e9 \u00e9lectronique.<\/p>\n

L’\u00e9tude a \u00e9t\u00e9 publi\u00e9e en ligne cette semaine dans The American Journal of Human Genetics<\/i>.<\/p>\n

\u00ab\u00a0Cette constatation importante sugg\u00e8re que l’utilisation d’une approche g\u00e9nomique d’abord peut identifier beaucoup plus de personnes souffrant de troubles rares plus t\u00f4t et peut \u00e9galement signifier que les chances de tomber malades de ces changements g\u00e9n\u00e9tiques sont plus faibles qu’on ne le pensait pr\u00e9c\u00e9demment\u00a0\u00bb, a d\u00e9clar\u00e9 Kyle Retter, MS, chef des sciences des donn\u00e9es chez Geisinger et auteur principal de l’\u00e9tude.<\/p>\n

\u00ab\u00a0L’utilisation d’une approche g\u00e9nomique d’abord offre le potentiel d’un diagnostic ant\u00e9rieur et plus pr\u00e9cis, d’une gestion et d’un traitement am\u00e9lior\u00e9s, et une description plus pr\u00e9cise des sympt\u00f4mes de troubles g\u00e9n\u00e9tiques rares, qui pourraient tous contribuer \u00e0 de meilleurs r\u00e9sultats.\u00a0\u00bb<\/p>\n

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Une approche \u00aben avant-premi\u00e8re\u00bb du d\u00e9pistage des troubles g\u00e9n\u00e9tiques rares – identifiant des variantes g\u00e9n\u00e9tiques<\/p>\n","protected":false},"author":1,"featured_media":10370,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[16,675,6997,719,1699,669,1052,4518,164],"class_list":["post-10369","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-des","tag-genetiques","tag-genomiquepremiere","tag-identifier","tag-lapproche","tag-peut","tag-rares","tag-tot","tag-troubles","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nL'approche \u00abg\u00e9nomique-premi\u00e8re\u00bb peut identifier des troubles g\u00e9n\u00e9tiques rares plus t\u00f4t - RVH-Synergie.org<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/rvh-synergie.org\/actualites\/lapproche-genomique-premiere-peut-identifier-des-troubles-genetiques-rares-plus-tot\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L'approche \u00abg\u00e9nomique-premi\u00e8re\u00bb peut identifier des troubles g\u00e9n\u00e9tiques rares plus t\u00f4t - 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