{"id":26236,"date":"2024-09-02T15:48:06","date_gmt":"2024-09-02T13:48:06","guid":{"rendered":"https:\/\/idibell.cat\/?p=26236"},"modified":"2024-09-03T11:12:46","modified_gmt":"2024-09-03T09:12:46","slug":"spadahc-una-nova-base-de-dades-per-millorar-la-classificacio-de-variants-en-gens-de-cancer-hereditari-a-la-poblacio-espanyola","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2024\/09\/spadahc-una-nova-base-de-dades-per-millorar-la-classificacio-de-variants-en-gens-de-cancer-hereditari-a-la-poblacio-espanyola\/","title":{"rendered":"SpadaHC, una nova base de dades per millorar la classificaci\u00f3 de variants en gens de c\u00e0ncer hereditari a la poblaci\u00f3 espanyola"},"content":{"rendered":"<p>Un estudi publicat recentment a la revista cient\u00edfica <em>Database: The Journal of Biological Database and Curation<\/em> presenta SpadaHC, una nova eina que permet als centres espanyols registrats en diagn\u00f2stic gen\u00e8tic compartir dades. Aquesta col\u00b7laboraci\u00f3 busca millorar la classificaci\u00f3 de variants gen\u00e8tiques que predisposen al c\u00e0ncer hereditari. SpadaHC, el nom del qual deriva de &#8220;<em>SPAnish DAtabase for Hereditary Cancer<\/em>&#8220;, \u00e9s el resultat d&#8217;un esfor\u00e7 promogut pel Centre de Recerca Biom\u00e8dica en Xarxa (CIBER) a trav\u00e9s de l&#8217;\u00e0rea de C\u00e0ncer (CIBERONC), a la qual pertanyen investigadors de l&#8217;Institut de Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i de l&#8217;Institut Catal\u00e0 d&#8217;Oncologia (ICO), amb la participaci\u00f3 de la Societat Espanyola de Gen\u00e8tica Humana (AEGH), la Societat Espanyola d&#8217;Oncologia M\u00e8dica (SEOM), i actualment 20 centres de recerca i hospitals espanyols.<\/p>\n<p><strong>Rellev\u00e0ncia de la classificaci\u00f3 de variants gen\u00e8tiques<\/strong><\/p>\n<p>La classificaci\u00f3 de variants gen\u00e8tiques \u00e9s essencial per a la presa de decisions cl\u00edniques en pacients amb sospita de c\u00e0ncer hereditari, impactant tant el pacient com els seus familiars. Una millor avaluaci\u00f3 del risc de c\u00e0ncer, recomanacions de seguiment, assessorament reproductiu i tractaments precisos s\u00f3n possibles gr\u00e0cies a una classificaci\u00f3 correcta d&#8217;aquestes variants. Classificar variants gen\u00e8tiques \u00e9s, per\u00f2, una tasca molt complexa: implica integrar informaci\u00f3 de diferents fonts, des d&#8217;eines bioinform\u00e0tiques als estudis gen\u00e8tics fets entre els familiars.<\/p>\n<p>A Espanya, hi ha m\u00faltiples laboratoris de diagn\u00f2stic gen\u00e8tic que detecten i classifiquen aquestes variants gen\u00e8tiques que fins ara no disposaven d&#8217;una eina que facilit\u00e9s compartir la informaci\u00f3 relativa a aquestes variants. Com a soluci\u00f3, neix SpadaHC, una plataforma web que permet als laboratoris espanyols de diagn\u00f2stic gen\u00e8tic compartir dades de variants en gens de c\u00e0ncer hereditari, cosa que promou que la classificaci\u00f3 de variants no difereixi entre laboratoris.<\/p>\n<p><strong>Funcionalitats de SpadaHC<\/strong><\/p>\n<p>SpadaHC permet als laboratoris contribuir tant amb classificacions de variants gen\u00e8tiques com amb les variants d&#8217;individus en format VCF (Variant Call Format), que \u00e9s utilitzat per emmagatzemar informaci\u00f3 detallada sobre les variacions gen\u00e8tiques observades en individus. Aquestes variants s\u00f3n obtingudes mitjan\u00e7ant l&#8217;avan\u00e7ada t\u00e8cnica de seq\u00fcenciaci\u00f3 massiva NGS (<em>Next-Generation Sequencing<\/em>), que proporciona una lectura detallada i eficient de l&#8217;ADN, permetent aix\u00ed una millor entesa i gesti\u00f3 de la predisposici\u00f3 gen\u00e8tica al c\u00e0ncer.<\/p>\n<p>Jos\u00e9 Marcos Moreno-Cabrera, primer autor de l&#8217;estudi i responsable del desenvolupament de SpadaHC a l&#8217;IDIBELL, enumera algunes de les funcionalitats m\u00e9s destacades de l&#8217;eina. Entre altres ressalta \u201c<em>el sistema de notificacions autom\u00e0tiques que avisa quan una variant d&#8217;inter\u00e8s \u00e9s classificada per un altre laboratori. Aix\u00f2 ajuda a identificar r\u00e0pidament possibles discrep\u00e0ncies amb altres laboratoris. A m\u00e9s, SpadaHC t\u00e9 dos nivells d&#8217;acc\u00e9s a les dades \u2013 obert i restringit \u2013 per protegir la informaci\u00f3 sensible dels pacients, un sistema flexible d&#8217;enviament de variants per adaptar-se al format espec\u00edfic de cada laboratori, m\u00faltiples opcions per explorar les dades, i el c\u00f2mput de les freq\u00fc\u00e8ncies poblacionals de cada variant en els pacients de SpadaHC<\/em>.\u201d<\/p>\n<p><strong>Impacte i abast de SpadaHC<\/strong><\/p>\n<p>Des del seu llan\u00e7ament el maig del 2023, 20 laboratoris pertanyents a 18 centres espanyols s&#8217;han unit a SpadaHC, i 11 m\u00e9s es troben en proc\u00e9s d&#8217;adhesi\u00f3. Al juliol de 2024 SpadaHC ja emmagatzema 1,17 milions de variants de 4306 pacients juntament amb 16588 classificacions enviades pels laboratoris. Anna Bigas, directora del CIBERONC, destaca que aquest esfor\u00e7 ja impacta en el maneig d&#8217;aquests pacients i fam\u00edlies.<\/p>\n<p>Un primer exemple va ser el treball que va permetre identificar 84 variants gen\u00e8tiques les classificacions de les quals tenien discrep\u00e0ncies cl\u00ednicament rellevants entre laboratoris. Aquestes discrep\u00e0ncies es van resoldre mitjan\u00e7ant una estrat\u00e8gia de resoluci\u00f3 en tres fases explicada a l&#8217;article esmentat. Conxi L\u00e1zaro i Gabriel Capell\u00e1, coordinadors de SpadaHC i personal investigador del CIBERONC a l&#8217;IDIBELL i a l\u2019ICO, coincideixen que \u201c<em>aquests resultats demostren el valor de la plataforma per promoure l&#8217;homogene\u00eftat en la classificaci\u00f3 de variants entre els laboratoris<\/em>\u201d<\/p>\n<p>Par a m\u00e9s informaci\u00f3 sobre SpadaHC, es pot visitar el web <a href=\"https:\/\/spadahc.ciberisciii.es\/\">spadahc.ciberisciii.es<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>L&#8217;eina, desenvolupada per investigadors de l&#8217;IDIBELL, l&#8217;ICO i el CIBERONC, facilita una classificaci\u00f3 m\u00e9s precisa i uniforme de les variants gen\u00e8tiques, clau per prendre decisions cl\u00edniques en pacients amb sospita de c\u00e0ncer, millorant l&#8217;atenci\u00f3 a pacients i les seves fam\u00edlies.<\/p>\n","protected":false},"author":8,"featured_media":26237,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"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":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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