{"id":13381,"date":"2021-01-31T22:14:12","date_gmt":"2021-02-01T03:14:12","guid":{"rendered":"https:\/\/nebula.org\/blog\/terminando-a-odisseia-diagnostica\/"},"modified":"2021-02-20T20:42:03","modified_gmt":"2021-02-21T01:42:03","slug":"terminando-a-odisseia-diagnostica","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/pt-br\/terminando-a-odisseia-diagnostica\/","title":{"rendered":"Terminando a Odiss\u00e9ia de Diagn\u00f3stico"},"content":{"rendered":"\n<p>Estima-se que 350 milh\u00f5es de pessoas em todo o mundo sofrem de um em 7.000<a href=\"https:\/\/www.eurordis.org\/content\/what-rare-disease\"> doen\u00e7as raras<\/a> , que s\u00e3o doen\u00e7as que afetam menos de 200.000 pacientes. Aproximadamente 50% das pessoas afetadas s\u00e3o crian\u00e7as. Normalmente, leva de cinco a sete anos para diagnosticar uma doen\u00e7a rara e envolve crian\u00e7as e suas fam\u00edlias visitando uma m\u00e9dia de sete m\u00e9dicos diferentes. Este processo longo e \u00e1rduo \u00e9 conhecido como a &#8220;odisseia do diagn\u00f3stico&#8221;.<strong> <\/strong><br\/><\/p>\n\n<h3 class=\"wp-block-heading\"><strong>Encerrando a Lei de Odiss\u00e9ia de Diagn\u00f3stico<\/strong><\/h3>\n\n<p>Cerca de 80% das doen\u00e7as raras s\u00e3o gen\u00e9ticas. Pensando nisso, h\u00e1 um claro incentivo para que os governos federal e estadual adotem a rotina<a href=\"https:\/\/nebula.org\/blog\/pt-br\/metodos-de-teste-de-introducao-ao-dna\/\"> sequenciamento do genoma completo (WGS)<\/a> , o teste gen\u00e9tico mais abrangente dispon\u00edvel, na pr\u00e1tica cl\u00ednica, especialmente para crian\u00e7as com doen\u00e7as n\u00e3o diagnosticadas. O WGS pode fornecer diagn\u00f3sticos oportunos, revelar op\u00e7\u00f5es de tratamento e potencialmente salvar vidas quando as ferramentas de diagn\u00f3stico tradicionais falham.<br\/><\/p>\n\n<p>Portanto, em 6 de janeiro de 2020, uma coaliz\u00e3o bipartid\u00e1ria de senadores, incluindo a senadora republicana Susan Collins do Maine, o senador democrata Doug Jones do Alabama, a senadora republicana Martha McSally do Arizona e o senador democrata Bob Menendez de Nova Jersey, apresentaram o<a href=\"https:\/\/www.collins.senate.gov\/sites\/default\/files\/Ending%20the%20Diagnostic%20Odyssey%20Act.pdf\"> Encerrando a Lei de Odiss\u00e9ia de Diagn\u00f3stico<\/a><strong> <\/strong>no Congresso, que, se aprovado, permitir\u00e1 que os estados usem o financiamento do Medicaid para pagar an\u00e1lises de sequenciamento do genoma completo (WGS) de crian\u00e7as com doen\u00e7as raras n\u00e3o diagnosticadas. Mais especificamente, esse projeto de lei criaria um programa piloto de tr\u00eas anos para cobrir 75% dos custos de sequenciamento, incentivando os estados a cobrir os 25% restantes. Este projeto \u00e9 uma contrapartida para<a href=\"https:\/\/www.congress.gov\/bill\/116th-congress\/house-bill\/4144\/text?r=2&amp;s=1\"> o projeto de lei da C\u00e2mara dos Representantes HR 4144<\/a> , que foi lan\u00e7ado em agosto de 2019.<\/p>\n\n<h3 class=\"wp-block-heading\"><strong>Superando Obst\u00e1culos Passados<\/strong><\/h3>\n\n<p>Voc\u00ea pode se perguntar: por que o WGS ainda n\u00e3o se tornou a tend\u00eancia dominante na pr\u00e1tica cl\u00ednica? Tem havido discuss\u00f5es entre os m\u00e9dicos sobre se faz sentido adotar<a href=\"https:\/\/nebula.org\/blog\/pt-br\/metodos-de-teste-de-introducao-ao-dna\/\"> sequenciamento de exoma inteiro (WES)<\/a> em vez de. Ele sequencia aproximadamente 2% do genoma de uma pessoa, abrangendo todos os genes codificadores de prote\u00ednas, e \u00e9 mais barato que o WGS. Apenas alguns anos atr\u00e1s, o custo do WGS era quase<a href=\"https:\/\/www.genome.gov\/about-genomics\/fact-sheets\/Sequencing-Human-Genome-cost\"> $ 100.000<\/a> . No entanto, hoje, o custo caiu para menos de $ 1.000 e continuar\u00e1 diminuindo, tornando esse argumento de custo cada vez mais irrelevante.<\/p>\n\n<p>Outra raz\u00e3o pela qual o WGS ainda n\u00e3o foi adotado \u00e9 que n\u00e3o podemos interpretar a maioria dos dados que ele produz. Como muitas muta\u00e7\u00f5es causadoras de doen\u00e7as que conhecemos est\u00e3o dentro de regi\u00f5es codificadoras de prote\u00ednas de genes, que s\u00e3o capturadas pelo WES, muitos m\u00e9dicos acreditam que pode ainda n\u00e3o fazer sentido sequenciar todo o genoma para o diagn\u00f3stico de doen\u00e7as raras. No entanto, os geneticistas est\u00e3o fazendo um tremendo progresso na compreens\u00e3o da fun\u00e7\u00e3o de<a href=\"https:\/\/www.scientificamerican.com\/article\/hidden-treasures-in-junk-dna\/\"> regi\u00f5es gen\u00f4micas n\u00e3o codificantes<\/a> e o papel que desempenham nas doen\u00e7as.<\/p>\n\n<h3 class=\"wp-block-heading\"><strong>Mudando a vida do paciente<\/strong><\/h3>\n\n<p>Existem exemplos que destacam os benef\u00edcios do WGS sobre o tratamento padr\u00e3o. Instituto Rady de Medicina Gen\u00f4mica Infantil em San Diego, CA<a href=\"https:\/\/www.radygenomics.org\/2018\/06\/15\/wgs-helps-diagnosis-and-reduces-healthcare-costs-for-neonates-in-intensive-care\/\"> realizou o sequenciamento do genoma completo em 363 crian\u00e7as internadas com menos de um ano de idade<\/a> , gerando diagn\u00f3sticos para cerca de 34% dessas crian\u00e7as em 96 horas. Isso resultou em ajustes no atendimento m\u00e9dico para 67% das crian\u00e7as diagnosticadas.<\/p>\n\n<p>No entanto, at\u00e9 o momento, 95% das doen\u00e7as raras ainda n\u00e3o t\u00eam op\u00e7\u00f5es de tratamento, destacando uma necessidade significativa n\u00e3o atendida. Existem esfor\u00e7os como o<a href=\"https:\/\/raregenomes.org\/home\"> Projeto Rare Genomes<\/a> , uma iniciativa liderada pelo Broad Institute of MIT e Harvard, que visa recrutar 1.000 pacientes e fam\u00edlias com suspeita de doen\u00e7a gen\u00e9tica n\u00e3o diagnosticada, na esperan\u00e7a de que isso leve a mais diagn\u00f3sticos e caminhos para o desenvolvimento de op\u00e7\u00f5es de tratamento. Na verdade, h\u00e1 esperan\u00e7a de que os tratamentos para doen\u00e7as gen\u00e9ticas estejam dispon\u00edveis em breve, pois o<a href=\"https:\/\/www.fda.gov\/news-events\/press-announcements\/statement-fda-commissioner-scott-gottlieb-md-and-peter-marks-md-phd-director-center-biologics\"> Food and Drug Administration (FDA) busca encorajar o desenvolvimento de terapias gen\u00e9ticas e acelerar a aprova\u00e7\u00e3o.<\/a> No entanto, mesmo sem op\u00e7\u00f5es de tratamento, o fim da odisseia diagn\u00f3stica \u00e9 um al\u00edvio para a maioria dos pacientes com doen\u00e7as raras. Al\u00e9m disso, ter um diagn\u00f3stico permite que as fam\u00edlias se conectem com outras fam\u00edlias que est\u00e3o enfrentando as mesmas dificuldades.<\/p>\n\n<p>Na Nebula Genomics, nossa miss\u00e3o \u00e9<a href=\"https:\/\/nebula.org\/whole-genome-sequencing\/\"> tornar o sequenciamento do genoma pessoal acess\u00edvel para todos.<\/a> Esperamos que a crescente ado\u00e7\u00e3o pelo mercado consumidor ajude a demonstrar o valor do sequenciamento do genoma completo e a aumentar a ado\u00e7\u00e3o na cl\u00ednica.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Estima-se que 350 milh\u00f5es de pessoas em todo o mundo sofrem de um em 7.000 doen\u00e7as raras , que s\u00e3o doen\u00e7as que afetam menos de 200.000 pacientes. Aproximadamente 50% das pessoas afetadas s\u00e3o crian\u00e7as. Normalmente, leva de cinco a sete &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/pt-br\/terminando-a-odisseia-diagnostica\/\"> <span class=\"screen-reader-text\">Terminando a Odiss\u00e9ia de Diagn\u00f3stico<\/span> Leia mais \u00bb<\/a><\/p>\n","protected":false},"author":13,"featured_media":13382,"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":[5002],"tags":[],"class_list":["post-13381","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-pt-br"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.13 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Encerrando a odiss\u00e9ia de diagn\u00f3stico para pacientes com doen\u00e7as gen\u00e9ticas raras<\/title>\n<meta name=\"description\" content=\"Normalmente, leva de cinco a sete anos para diagnosticar uma doen\u00e7a rara ... 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