{"id":9621,"date":"2021-01-05T23:23:55","date_gmt":"2021-01-06T04:23:55","guid":{"rendered":"https:\/\/nebula.org\/blog\/fin-lodyssee-diagnostique\/"},"modified":"2021-02-20T20:52:58","modified_gmt":"2021-02-21T01:52:58","slug":"fin-lodyssee-diagnostique","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/fr\/fin-lodyssee-diagnostique\/","title":{"rendered":"Mettre fin \u00e0 l’Odyss\u00e9e du diagnostic"},"content":{"rendered":"\n

On estime que 350 millions de personnes dans le monde souffrent de l’une des 7000 maladies rares<\/a> , qui sont des maladies qui touchent moins de 200 000 patients. Environ 50% des personnes touch\u00e9es sont des enfants. En r\u00e8gle g\u00e9n\u00e9rale, il faut cinq \u00e0 sept ans pour diagnostiquer une maladie rare et les enfants et leur famille consultent en moyenne sept m\u00e9decins diff\u00e9rents. Ce processus long et ardu est connu sous le nom d ‘\u00abodyss\u00e9e diagnostique\u00bb. <\/strong><\/p>\n\n

Mettre fin au diagnostic Odyssey Act<\/strong><\/h3>\n\n

Environ 80% des maladies rares sont g\u00e9n\u00e9tiques. Dans cet esprit, les gouvernements f\u00e9d\u00e9ral et des \u00c9tats sont clairement incit\u00e9s \u00e0 adopter des s\u00e9quen\u00e7age du g\u00e9nome entier (WGS)<\/a> , le test g\u00e9n\u00e9tique le plus complet disponible, dans la pratique clinique, en particulier pour les enfants atteints de maladies non diagnostiqu\u00e9es. WGS peut fournir des diagnostics en temps opportun, r\u00e9v\u00e9ler les options de traitement et potentiellement sauver des vies lorsque les outils de diagnostic traditionnels \u00e9chouent.<\/p>\n\n

Par cons\u00e9quent, le 6 janvier 2020, une coalition bipartite de s\u00e9nateurs, comprenant la s\u00e9natrice r\u00e9publicaine Susan Collins du Maine, le s\u00e9nateur d\u00e9mocrate Doug Jones de l’Alabama, la s\u00e9natrice r\u00e9publicaine Martha McSally de l’Arizona et le s\u00e9nateur d\u00e9mocrate Bob Menendez du New Jersey, a pr\u00e9sent\u00e9 le Mettre fin au diagnostic Odyssey Act<\/a> <\/strong>au Congr\u00e8s, qui, s’il est adopt\u00e9, permettra aux \u00c9tats d’utiliser le financement de Medicaid pour financer l’analyse du s\u00e9quen\u00e7age du g\u00e9nome entier (WGS) d’enfants atteints de maladies rares non diagnostiqu\u00e9es. Plus pr\u00e9cis\u00e9ment, ce projet de loi cr\u00e9erait un programme pilote de trois ans pour couvrir 75% des co\u00fbts de s\u00e9quen\u00e7age, incitant les \u00c9tats \u00e0 couvrir les 25% restants. Ce projet de loi est le pendant le projet de loi HR 4144 de la Chambre des repr\u00e9sentants<\/a> , qui a \u00e9t\u00e9 introduit en ao\u00fbt 2019.<\/p>\n\n

Surmonter les obstacles pass\u00e9s<\/strong><\/h3>\n\n

Vous vous demandez peut-\u00eatre pourquoi le WGS n’est-il pas d\u00e9j\u00e0 devenu courant dans la pratique clinique? Il y a eu des discussions parmi les cliniciens sur l’opportunit\u00e9 d’adopter s\u00e9quen\u00e7age de l’exome entier (WES)<\/a> au lieu. Il s\u00e9quence environ 2% du g\u00e9nome d’une personne, englobant tous les g\u00e8nes codant pour les prot\u00e9ines, et co\u00fbte moins cher que le WGS. Il y a quelques ann\u00e9es \u00e0 peine, le co\u00fbt du WGS \u00e9tait presque 100 000 $<\/a> . Cependant, aujourd’hui, le co\u00fbt est tomb\u00e9 en dessous de 1 000 $ et continuera de baisser, ce qui rend cet argument de co\u00fbt de moins en moins pertinent.<\/p>\n\n

Une autre raison pour laquelle WGS n’a pas encore \u00e9t\u00e9 adopt\u00e9 est que nous sommes incapables d’interpr\u00e9ter la plupart des donn\u00e9es qu’il produit. \u00c9tant donn\u00e9 que de nombreuses mutations pathog\u00e8nes que nous connaissons se trouvent dans des r\u00e9gions de g\u00e8nes codant pour des prot\u00e9ines, qui sont captur\u00e9es par WES, de nombreux cliniciens pensent qu’il n’est peut-\u00eatre pas encore logique de s\u00e9quencer tout le g\u00e9nome pour le diagnostic de maladies rares. Cependant, les g\u00e9n\u00e9ticiens font d’\u00e9normes progr\u00e8s dans la compr\u00e9hension de la fonction de r\u00e9gions g\u00e9nomiques non codantes<\/a> et le r\u00f4le qu’ils jouent dans la maladie.<\/p>\n\n

Changer la vie des patients<\/strong><\/h3>\n\n

Il existe des exemples qui mettent en \u00e9vidence les avantages du WGS par rapport aux soins standard. Institut Rady pour enfants de m\u00e9decine g\u00e9nomique \u00e0 San Diego, Californie effectu\u00e9 un s\u00e9quen\u00e7age du g\u00e9nome entier sur 363 enfants hospitalis\u00e9s de moins d’un an<\/a> , donnant des diagnostics pour environ 34% de ces enfants dans les 96 heures. Cela a entra\u00een\u00e9 des ajustements des soins m\u00e9dicaux pour 67% des enfants diagnostiqu\u00e9s.<\/p>\n\n

Cependant, \u00e0 ce jour, 95% des maladies rares n’ont toujours pas d’options de traitement, mettant en \u00e9vidence un besoin non satisfait important. Il y a des efforts comme le Projet de g\u00e9nomes rares<\/a> , une initiative men\u00e9e par le Broad Institute du MIT et de Harvard, qui vise \u00e0 recruter 1000 patients et familles avec une maladie g\u00e9n\u00e9tique suspect\u00e9e non diagnostiqu\u00e9e, dans l’espoir que cela conduira \u00e0 plus de diagnostics et de possibilit\u00e9s de d\u00e9veloppement d’options de traitement. En fait, on esp\u00e8re que les traitements des maladies g\u00e9n\u00e9tiques seront bient\u00f4t disponibles, car le La Food and Drug Administration (FDA) cherche \u00e0 encourager le d\u00e9veloppement de th\u00e9rapies g\u00e9niques et \u00e0 acc\u00e9l\u00e9rer l’approbation.<\/a> Cependant, m\u00eame sans options de traitement, la fin de l’odyss\u00e9e diagnostique est un soulagement pour la plupart des patients atteints de maladies rares. De plus, le fait d’avoir des diagnostics permet aux familles de se connecter avec d’autres familles confront\u00e9es aux m\u00eames difficult\u00e9s.<\/p>\n\n

Chez Nebula Genomics, notre mission est de rendre le s\u00e9quen\u00e7age personnel du g\u00e9nome abordable pour tous.<\/a> Nous esp\u00e9rons que l’adoption croissante par le march\u00e9 de la consommation aidera \u00e0 d\u00e9montrer la valeur du s\u00e9quen\u00e7age du g\u00e9nome entier et \u00e0 acc\u00e9l\u00e9rer l’adoption en clinique.<\/p>\n","protected":false},"excerpt":{"rendered":"

On estime que 350 millions de personnes dans le monde souffrent de l’une des 7000 maladies rares , qui sont des maladies qui touchent moins de 200 000 patients. Environ 50% des personnes touch\u00e9es sont des enfants. En r\u00e8gle g\u00e9n\u00e9rale, …<\/p>\n

Mettre fin \u00e0 l’Odyss\u00e9e du diagnostic<\/span> Lire la suite \u00bb<\/a><\/p>\n","protected":false},"author":13,"featured_media":5080,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4976],"tags":[],"class_list":["post-9621","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-fr"],"yoast_head":"\nMettre fin \u00e0 l'odyss\u00e9e du diagnostic pour les patients atteints de maladies g\u00e9n\u00e9tiques rares<\/title>\n<meta name=\"description\" content=\"En r\u00e8gle g\u00e9n\u00e9rale, il faut cinq \u00e0 sept ans pour diagnostiquer une maladie rare ... 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