{"id":14488,"date":"2021-02-11T20:13:20","date_gmt":"2021-02-12T01:13:20","guid":{"rendered":"https:\/\/nebula.org\/blog\/medicina-genomica\/"},"modified":"2021-02-20T20:03:25","modified_gmt":"2021-02-21T01:03:25","slug":"medicina-genomica","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/ja\/medicina-genomica\/","title":{"rendered":"Ofuturodamedicinagen\u00f4mica"},"content":{"rendered":"\n

Editado\u306b\u3088\u3063\u3066ChristinaSwords\u3001Ph.D\u3002<\/em><\/p>\n\n

Oque\u00e9medicinagen\u00f4mica\uff1f<\/strong><\/h4>\n\n

Gen\u00f4mica\u00e9oestudodoc\u00f3digogen\u00e9ticocompletodeumOrganismoousequ\u00eanciadeDNA\u3001ecomoosgenesconstitu\u00eddosporesseDNAinteragem entre si e com oambiente para fazer desseOrganismooqueele\u00e9\u3002 O genoma humano foi sequenciado pela primeira vezcomaconclus\u00e3odoProjetoGenomaHumano em 2003\u3001masat\u00e9hojeasfun\u00e7\u00f5esdemuitaspartesdogenoman\u00e3os\u00e3ocompreendidas\u3002 Oscientistasaindaest\u00e3otrabalhandoparamelhorarnossacompreens\u00e3odecomoexatamenteoc\u00f3digogen\u00e9tico\u00fanicodecadapessoaafetaseustra\u00e7os\u3001susa\u00fadeesuasvidas\u3002<\/p>\n\n

\u00c0medidaqueatecnologia de sequenciamento do genoma melhora\u3001tamb\u00e9mmelhoraanossacompreens\u00e3odogenoma\u3002 O primeiro genoma humano sequenciado pelo Projeto Genoma Humano custou US $2,7bilh\u00f5es\u3002 Combina\u00e7\u00e3odemaiordisponibilidadede sequenciamentoemaiorcompreens\u00e3odecomoavaria\u00e7\u00e3ogen\u00f4micaafetanossostra\u00e7osestimuloousurgimentodo campodamedicinagen\u00f4mica\uff1aaplica\u00e7\u00e3odasinforma\u00e7\u00f5esgen\u00f4mica<\/p>\n\n

Como a disponibilidade do sequenciamento do genoma inteiro erabastantelimitadaat\u00e9recentementeelevaum tempo significativo para traduzir pesquisas depontaempr\u00e1ticacl\u00ednica\u3001medicinagen\u00f4micaaindaest\u00e1emseusest\u00e1giosinicia \u30a8\u30f3\u30bf\u30f3\u30c8\u306a\u3057\u3001aindahojeest\u00e1contribuindosignificativamenteparaa melhoria dos resultados do tratamentoeesseimpactoaumentar\u00e1emordensdemagnitudenospr\u00f3ximosanos\u3001\u00e0medidaquenossa capacidade de entender e analisar o genoma continua a melar<\/p>\n\n

Comoagen\u00f4micaest\u00e1transformandoapr\u00e1ticadamedicinahoje<\/strong><\/h4>\n\n

Emboraamedicinagen\u00f4micaaindaestejaemseusest\u00e1giosiniciais\u3001elaj\u00e1teveimpactospositivosprofundosnosdiagn\u00f3sticoscl\u00ednicos\u3001tratamentos e ferramentas detomadadedecis\u00e3oemmuitasdisciplinasdamedicina\u3002<\/p>\n\n

H\u00e1algumtempo\u3001temos a capacidade deusartestesgen\u00e9ticosparadiagnosticardoen\u00e7asgen\u00e9ticassimples\u3001comofibrosec\u00edstica\u3001anemiafalciformeoudoen\u00e7adeTay-Sachs\u3002 \u30a8\u30f3\u30bf\u30f3\u30c8\u306a\u3057\u3001avan\u00e7osrecentesnamedicinagen\u00f4micanosderamacapacidadedeusardadosgen\u00f4micosparaobterinforma\u00e7\u00f5essobreoriscodeumindiv\u00edduodesenvolverdoen\u00e7ascomcomponentesgen\u00e9ticosmaiscomplexos\u3002 Umexemplobemconhecido\u00e9queosindiv\u00edduoscomcertasmuta\u00e7\u00f5esnasupress\u00e3odetumor BRCA1<\/em> e \/ ou BRCA2<\/em> osgenest\u00eammuitomaisprobabilidadededesenvolverc\u00e2ncerdemamadoqueosindiv\u00edduossemessasmuta\u00e7\u00f5es\u3002 Umindiv\u00edduoquepassoupor sequenciamento de todo o genoma de alta cobertura<\/a> podedeterminarseelest\u00eamoun\u00e3oumamuta\u00e7\u00e3onessesgenes\u3002 Se o fizerem\u3001podem tomar medidas para reduzir oriscodec\u00e2ncerdemama\u3001como tomar certos Medicos hormonais Preventivos ou fazer Exames Regulares demama\u3002<\/p>\n\n

Outrat\u00e9cnicanot\u00e1velerelativamenterecenteparapreveroriscodedoen\u00e7adeumindiv\u00edduo\u00e9oescorederiscopolig\u00eanico\u3002 Osescoresderiscopolig\u00eanicosomamosefeitosdasvaria\u00e7\u00f5esdemuitosgenesdiferentesdeumindiv\u00edduoparacalcularumescore que preveja asuscetibilidadedoindiv\u00edduoaumadoen\u00e7a\u3002 Oscientistast\u00eamcriadorapidamenemuitos novosescoresderiscopolig\u00eanicoparapreverasuscetibilidadeamuitascondi\u00e7\u00f5es\u3002 Algumaspontua\u00e7\u00f5esderiscocomumenterelatadasemtestesgen\u00e9ticosatuaisforneceminforma\u00e7\u00f5essobreoriscodeumindiv\u00edduodesenvolverdoen\u00e7acard\u00edacaediadiatipo2nofuturo\u3002<\/p>\n\n

Al\u00e9mdepreveroriscodedoen\u00e7aseajudaratomarmedidas Preventivas\u3001medicinagen\u00f4micaj\u00e1est\u00e1sendousadapara administrar terapias personalizadasapacientesques\u00e3omaiseficazesdoqueasterap\u00eauticastradicionais\u3002 Um dos principaiscamposdeaplica\u00e7\u00e3odamedicinagen\u00f4micaparaesseprop\u00f3sito\u00e9aoncologia\u3002 Ao sequenciar as amostras dotumor de um paciente\u3001osm\u00e9dicospodemrecomendartratamentoscombasenasmuta\u00e7\u00f5esqueotumorpossui\u3002 Uma vez que esses tratamentos visam otumorcombaseemmuta\u00e7\u00f5esqueodiferenciamdasc\u00e9lulasnormaisdocorpo\u3001elesgeralmentes\u00e3osignificativamentemaiseficazese causammenos efeitoscolaterais do que ostratamentostradiciona Um exemplo relativamente conhecido deumdessestratamentos\u00e9aclassedeMedicos deimunoterapiacontraoc\u00e2ncerconhecidoscomoinibidoresde checkpoint\u3001ques\u00e3ousadosparatratarv\u00e1riostiposdiferentesdec\u00e2ncer\u3002 V\u00e1riosdessesmedicostatuamvisandoaprote\u00ednaPD-L1\u3001que\u00e9codificadapelo CD274<\/em> c\u00e9lulascancerosasaevitaremadetec\u00e7\u00e3opelosistemaimunol\u00f3gico\u3068\u3057\u3066\u306egeneeajuda\u3002 Portanto\u3001ao sequenciar uma amostra detumor e verificar se otumorexpressaoun\u00e3oPD-L1emumaaltapropor\u00e7\u00e3odesuasc\u00e9lulas\u3001podemosterumavis\u00e3osobrea\u30c1\u30e3\u30f3\u30b9deque essas drogas sejam capazes de tratar eficazmentesse\u816b\u760d\u3002 Paraenfatizaroqu\u00e3oavan\u00e7ada\u00e9abordagemdamedicinagen\u00f4mica\u00e0oncologia\u3001aprova\u00e7\u00e3odoFDAem 2017 de um inibidor de checkpoint\u3001o pembrolizumabe\u3001foi a primeira vez que aprovou um Medicocontraoc\u00e2ncercombasenagen\u00e9tic tipo de tecido ou localdotumor\u3002<\/p>\n\n

\u30a8\u30f3\u30bf\u30f3\u30c8\u306a\u3057\u3001\u30a8\u30c3\u30b5\u30fb\u30a2\u30dc\u30eb\u30c0\u30b2\u30e0\u30fb\u30c7\u30fb\u30c8\u30e9\u30bf\u30e1\u30f3\u30c8\u30fb\u30d1\u30fc\u30bd\u30ca\u30ea\u30b6\u30c9\u30fb\u30b3\u30e0\u30fb\u30d9\u30fc\u30b9\u30fb\u30a8\u30f3\u30fb\u30d1\u30fc\u30d5\u30a3\u30b9\u30fb\u30b8\u30a7\u30cd\u30c6\u30a3\u30b3\u30b9\u30fb\u30ca\u30aa\u30fb\u30bb\u30fb\u30ea\u30df\u30bf\u30fb\u30a2\u30fb\u816b\u760d\u30fb\u30a8\u30fb\u30aa\u30f3\u30b3\u30ed\u30b8\u30a2\u3002 O campoEmergentedafarmacogen\u00f4mica\u3001umaaplica\u00e7\u00e3odamedicinagen\u00f4mica\u3001usainforma\u00e7\u00f5essobreogenoma de uma pessoa para ajudar a determinar quais Medicosetratamentoss\u00e3omaisadequados\u00e0ssuasnecessidades\u3002 farmacogen\u00f4micaest\u00e1atualmenteganhandofor\u00e7anapsiquiatria\u3001pois estudos latestes sugeriramqueoperfilgen\u00e9ticodeumindiv\u00edduopodeserusadopara determinar qual antidepressivo equaismedicalosantipsic\u00f3ticosser\u00e3omaiseficazes<\/p>\n\n

Umdosavan\u00e7osmaisavan\u00e7adosnamedicinagen\u00f4mica\u00e9aterapiagen\u00e9tica\u3001queocorrequandoumdist\u00farbio\u00e9tratadopelainser\u00e7\u00e3odeumgenenasc\u00e9lulasdopacienteoupeladesativa\u00e7\u00e3odeumgenemutado que Umm\u00e9todocomumdefazerisso\u00e9tirarvantagemdecertostiposdev\u00edrusqueinvademasc\u00e9lulaseinjetamseupr\u00f3prioDNAnoscromossomosdac\u00e9lula\u3002 Oscientistasusamv\u00edrusmodificadosqueinjetamc\u00f3digogen\u00e9tico\u00fatilembezdeseupr\u00f3priomaterialgen\u00e9ticoparaconsertargenesquen\u00e3oest\u00e3ofuncionandocorretamente\u3002 Fazendo isso\u3001eles podem tratar e\u3001\u00e0svezes\u3001curardoen\u00e7asgen\u00e9ticas\u3002 Neste momento\u3001apenas umpunhadodeterapiasgen\u00e9ticass\u00e3o aprovado pelo FDA<\/a> parausocl\u00edniconosEUAparaotratamentodecondi\u00e7\u00f5escomoatrofiamuscularespinhal ou distrofiaretiniana\u3002 \u30a8\u30f3\u30bf\u30f3\u30c8\u306a\u3057\u3001muitasnovasterapiast\u00e3oatualmentepassandoportestescl\u00ednicos\u3002<\/p>\n\n

Ofuturodamedicinagen\u00f4mica<\/strong><\/h4>\n\n

Embora seja um campo relativamente novo\u3001medicinagen\u00f4micaj\u00e1causoumudan\u00e7assignificativasemmuitosaspectosdasa\u00fade\u3002 \u30a8\u30f3\u30bf\u30f3\u30c8\u306a\u3057\u3001\u00e0medidaque nossa capacidade de entender e analisar o genoma melhora com o tempo\u3001oimpactodagen\u00f4micam\u00e9dicaaumentar\u00e1drasticamente\u3002<\/p>\n\n

O custo de todo o sequenciamento do genomacaiuexponencialmenteecontinuar\u00e1acairnofuturoat\u00e9queestejaprontamentedispon\u00edvelaumpre\u00e7oacess\u00edvelatodos\u3002 Como outros problemas que impedem as pessoas de serem sequenciadas\u3001como\u30d7\u30e9\u30a4\u30d0\u30b7\u30fc<\/a>preocupa\u00e7\u00f5estamb\u00e9ms\u00e3oabordadas\u3001haver\u00e1umaumentosignificativonon\u00famerodepessoasques\u00e3osequenciadaseumaexplos\u00e3odedadosgen\u00f4micosdispon\u00edveisparaseremusadosempesquisas\u3002 Com esses dados\u3001ospesquisadoresser\u00e3ocapazesdemelhorar maisRapidamentenossacompreens\u00e3odogenomahumano\u3001expandindo significativamente ascapacidadesdamedicinagen\u00f4mica\u3002<\/p>\n\n

Conjuntosdedadosgen\u00f4micosmaiorespermitir\u00e3oaospesquisadoresobterumacompreens\u00e3omelhoradadograuemquemuitasdoen\u00e7asecondi\u00e7\u00f5ess\u00e3ocausadaspelagen\u00e9ticadeumindiv\u00edduoeumacapacidademelhoradademediradeumindiv\u00edduoeumacapacidademelhoradade medir Umamelhorcompreens\u00e3odagen\u00e9ticasubjacenteacondi\u00e7\u00f5esespec\u00edficastamb\u00e9majudar\u00e1afornecerinforma\u00e7\u00f5essobreosmecanismoscelulares subjacentesaessascondi\u00e7\u00f5es\u3001oquedar\u00e1aoscientistasnovos Insights sobre \u30dd\u30eb\u30b3\u30fc\u30b5\u30c7\u30a3\u30bd\u3001osindiv\u00edduosquet\u00eamseusgenomassequenciadosser\u00e3ocapazesdeobter Insights muito mais abrangentes e personalizadossobreasdoen\u00e7asaques\u00e3osuscet\u00edveiseparasuemareudesauredeasreceberinforma\u00e7\u00f5esacion\u00e1veissobremedidas\u5b9f\u9a13\u7684\u306a\u30a8\u30c3\u30b5\u306e\u6761\u4ef6\u306e\u30c1\u30e3\u30f3\u30b9\u3002<\/p>\n\n

\u00c9importanteressaltarqueoselementosgen\u00e9ticossubjacentes\u00e0scondi\u00e7\u00f5esmaiscomunstamb\u00e9mser\u00e3omelhorcompreendidos\u3002 \u4f8b\u3068\u3057\u3066\u3001se seugenomapredisp\u00f5evoc\u00ea\u00e0obesidade\u3001seum\u00e9dicoir\u00e1inform\u00e1-loedar-lheconselhospersonalizadossobremudan\u00e7asnoestilodevida para ajudaraprevenirquevoc\u00easetorneobeso\u3002 pesquisaj\u00e1come\u00e7ousobreagen\u00e9ticasubjacenteamuitascondi\u00e7\u00f5escomuns\u3001comodoen\u00e7ascard\u00edacasediadia\u3001maselesaindan\u00e3os\u00e3obemcompreendidos\u3002<\/p>\n\n

\u7279\u306b\u3001indiv\u00edduoscom doen\u00e7asraras<\/a> podem se beneficiar de uma maiordisponibilidadedesequenciamentogen\u00f4mico\u3002 Comon\u00e3oexistemmuitospacientescomdoen\u00e7asraras\u3001\u00e9dif\u00edcilparaospesquisadores obterem dados suficientes paraestudossobreessasdoen\u00e7as\u3002 Tornarosequenciamentogen\u00f4micomaisacess\u00edvel\u3001atraenteeacess\u00edvelparapesquisaajudar\u00e1ospesquisadoresa obter os dados de que precisamparacompreenderagen\u00e9ticasubjacenteaessascondi\u00e7\u00f5esedesenvolvermelhoresdiagn\u00f3<\/p>\n\n

Al\u00e9mdisso\u3001disponibilidade maisampladesequenciamentogen\u00f4miconospermitiriareduzirmuito oueliminartotalmenteapreval\u00eanciademuitasdoen\u00e7asgen\u00e9ticascomm\u00e9todosdeheran\u00e7asimples\u3001comofibrosec\u00edsticaoudoen\u00e7ade Se todos estiverem sequenciados e cientes deseremoun\u00e3oportadoresdealgunsdessesdist\u00farbios\u3001eles podemtomarmedidasdeprecau\u00e7\u00e3oparagarantirqueseusfilhosn\u00e3oherdemasdoen\u00e7as\u3002 \u4f8b\u3068\u3057\u3066\u3001umaop\u00e7\u00e3o\u00e9usarfertiliza\u00e7\u00e3oinvitropara garantirqueacondi\u00e7\u00e3on\u00e3osejatransmitidaparaseus\u306e\u5b50\u5b6b\u3002 Ao eliminar oureduzirapreval\u00eanciadessesdist\u00farbios\u3001muitas pessoas podem ser impedidas de sofrereosistemadesa\u00fadepodesetornarmaiseficiente\u3002<\/p>\n\n

\u30dd\u30eb\u30d5\u30a3\u30e0\u3001\u00e0medidaque osmecanismossubjacentes\u00e0sdoen\u00e7asgen\u00e9ticass\u00e3omaisbemcompreendidoseast\u00e9cnicasdeedi\u00e7\u00e3odegenescomooCRISPR-Cas9s\u00e3oaperfei\u00e7oadas\u3001seremoscapazesdeusaressas t edi\u00e7\u00e3odegenes\u3001oscientistasser\u00e3ocapazesdetratarouat\u00e9mesmocurardoen\u00e7asgen\u00e9ticas\u3001alterandoquaisquervariantesgen\u00e9ticasqueasestejamcausandoerestaurandofun\u00e7\u00e3onormal\u3002 Enquantoasc\u00e9lulasgerminativas\uff08\u00f3vuloseespermatoz\u00f3ides\uff09n\u00e3oforemeditadas\u3001essasaltera\u00e7\u00f5esgen\u00e9ticasn\u00e3odevemsertransmitidasaosdescendentesdosindiv\u00edduostratados\u3002<\/p>\n\n

O que os consumidores devemsabresobregen\u00f4micapessoal<\/strong><\/h4>\n\n

Est\u00e1claroqueosbenef\u00edciosdoavan\u00e7odamedicinagen\u00f4micaser\u00e3ograndes\u3002 \u30a8\u30f3\u30bf\u30f3\u30c8\u306f\u3042\u308a\u307e\u305b\u3093\u3002 Sevoc\u00eativerseugenomasequenciado para que possa participar\u3001voc\u00eadeveestarcientedequemter\u00e1acessoaosseusdadosposteriormente\u3002 Muitos atuais diretos paraempresasdetestesgen\u00e9ticosdeconsumo vendem osdadosdeseususu\u00e1riosparaempresasfarmac\u00eauticas<\/a> \u3002 Emboraacreditemosclaramenteque\u00e9ben\u00e9ficodisponibilizarmaisdadosgen\u00f4micosaospesquisadores\u3001tamb\u00e9macreditamosqueseusdadosgen\u00f4micospertencemavoc\u00ea\u3001portanto\u3001voc\u00eadeveter controle total sobre exatamente quem que \u00c9porissoqueaplataformaNebulad\u00e1avoc\u00eaaescolhadecompartilharoun\u00e3oseusdadosgen\u00f4micosan\u00f4nimoscompesquisadores\u3001caso a caso\u3001erecompensavoc\u00easevoc\u00eadecidircompartilh\u00e1-loscomeles\u3002<\/p>\n\n

Al\u00e9mdisso\u3001dependendo deondevoc\u00eamora\u3001\u00e9poss\u00edvelqueasseguradorasusemseusdadosgen\u00f4micosparadefinirospre\u00e7osparavoc\u00ea\u3002 Nos Estados Unidos\u3001o LeideN\u00e3oDiscrimina\u00e7\u00e3odeInforma\u00e7\u00e3oGen\u00e9ticade2008\uff08GINA\uff09<\/a> seguradorasdesa\u00fadediscriminemindiv\u00edduoscombaseemseusdadosgen\u00e9ticos\u3068\u3057\u3066que\u3092\u59a8\u5bb3\u3057\u307e\u3059\u3002 entanto\u3001outros tipos de seguradoras\u3001como vida ou invalidez\u3001ainda podem usar seus dadosparadefinirpre\u00e7os\u3001sedesejarem\u306f\u3042\u308a\u307e\u305b\u3093\u3002 Na Nebula\u3001estamos desenvolvendo t\u00e9cnicascriptogr\u00e1ficas<\/a> paragarantirqueapenasvoc\u00eaeaquelescomquemvoc\u00eaescolherexplicitamentecompartilharseusdadospossamv\u00ea-los\u3002<\/p>\n\n

\u00c9importantenotarque\u3001\u00e0medidaqueamedicinagen\u00f4micaavan\u00e7a\u3001os riscos de privacidadeimpostosaosindiv\u00edduostamb\u00e9maumentam\u3002 Oscientistasj\u00e1est\u00e3otrabalhandoemalgoritmosparadeix\u00e1-losgerar umaaproxima\u00e7\u00e3odorostodeumapessoa<\/a> usandoseusdadosgen\u00f4micos\u3002 \u00c0medidaqueessast\u00e9cnicasavan\u00e7amnofuturo\u3001ser\u00e1aindamaisf\u00e1cilparaaspessoas usaremseusdadosgen\u00f4micosan\u00f4nimosparaidentific\u00e1-loeobtergrandesquantidadesdeinforma\u00e7\u00f5essobrevoc\u00ea\u3002<\/p>\n\n

Em\u00faltimaan\u00e1lise\u3001medicinagen\u00f4micatemopotencialdefazermudan\u00e7aspositivasextraordin\u00e1riasna\u00e1readasa\u00fadesemaisdadosgen\u00f4micosforemdisponibilizadosaospesquisadores\u3001masdevemos garantir que esses dados seja Nosso objetivonaNebula\u00e9permitirquevoc\u00easejasequenciadoaumpre\u00e7oacess\u00edvel\u3001mantendo a propriedade de seus dadosepermitindoquevoc\u00eacompartilheessesdadosde formaseguraean\u00f4nimacompesquisadoresparaajudar a progredir<\/p>\n","protected":false},"excerpt":{"rendered":"

Editado\u306b\u3088\u3063\u3066ChristinaSwords\u3001Ph.D\u3002 Oque\u00e9me …<\/p>\n

Ofuturodamedicinagen\u00f4mica<\/span> Read More 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