{"id":14461,"date":"2021-02-11T20:13:09","date_gmt":"2021-02-12T01:13:09","guid":{"rendered":"https:\/\/nebula.org\/blog\/medicina-genomica\/"},"modified":"2021-02-20T20:03:23","modified_gmt":"2021-02-21T01:03:23","slug":"medicina-genomica","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/ru\/medicina-genomica\/","title":{"rendered":"\u041e \u0444\u0443\u0442\u0443\u0440\u043e \u0434\u0430 \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e \u0433\u0435\u043d\u043e\u043c\u0438\u043a\u0430"},"content":{"rendered":"\n

Editado por Christina Swords, Ph.D.<\/em><\/p>\n\n

O que \u00e9 medicina gen\u00f4mica?<\/strong><\/h4>\n\n

Gen\u00f4mica \u00e9 o estudo do c\u00f3digo gen\u00e9tico complete de um organismo or sequ\u00eancia de DNA, e como os genes constitu\u00eddos por esse DNA interragem entre si e com o ambiente para fazer desse organismo o que ele \u00e9. \u041e \u0433\u0435\u043d\u043e\u043c\u0435 \u0447\u0435\u043b\u043e\u0432\u0435\u043a\u0430 \u0434\u043b\u044f \u043f\u043e\u0441\u043b\u0435\u0434\u043e\u0432\u0430\u0442\u0435\u043b\u044c\u043d\u043e\u0433\u043e \u043f\u0435\u043b\u0430 \u043f\u0435\u0440\u0432\u0438\u0447\u043d\u043e\u0433\u043e \u0432\u044b\u0432\u043e\u0434\u0430 \u0438\u0437 Projeto Genoma Humano em 2003, \u043d\u0443\u0436\u043d\u043e \u0434\u0443\u043c\u0430\u0442\u044c \u043a\u0430\u043a \u0444\u0443\u043d\u043a\u0446\u0438\u0438 \u0443\u0447\u0430\u0441\u0442\u043d\u0438\u043a\u043e\u0432, \u0443\u0447\u0430\u0441\u0442\u0432\u0443\u044e\u0449\u0438\u0445 \u0432 \u0433\u0435\u043d\u043e\u043c\u0435, \u043d\u0435 \u0438\u043c\u0435\u044e\u0449\u0435\u043c \u043d\u0438\u043a\u0430\u043a\u043e\u0433\u043e \u043e\u0442\u043d\u043e\u0448\u0435\u043d\u0438\u044f \u043a \u0441\u043e\u0441\u0442\u0430\u0432\u043d\u043e\u043c\u0443. Os cientistas ainda est\u00e3o trabalhando para melhorar nossa compreens\u00e3o de como exatamente o c\u00f3digo gen\u00e9tico \u00fanico de cada pessoa afeta seus tra\u00e7os, sua sa\u00fade e suas vidas.<\/p>\n\n

\u00c0 medida que a tecnologia dequenciamento do genoma melhora, tamb\u00e9m melhora a nossa compreens\u00e3o do genoma. \u041f\u0435\u0440\u0432\u043e\u043d\u0430\u0447\u0430\u043b\u044c\u043d\u044b\u0439 \u0433\u0435\u043d\u043e\u043c\u0430 \u0447\u0435\u043b\u043e\u0432\u0435\u043a\u0430, \u0441\u0435\u043a\u0432\u0435\u043d\u0438\u0440\u043e\u0432\u0430\u043d\u043d\u044b\u0439 \u0441 \u043f\u043e\u043c\u043e\u0449\u044c\u044e \u043f\u0440\u043e\u0435\u043a\u0442\u0430 Genoma Humano, \u0442\u0440\u0435\u0431\u0443\u0435\u0442 2,7 \u0434\u043e\u043b\u043b\u0430\u0440\u043e\u0432 \u0421\u0428\u0410. \u041a\u043e\u043c\u0431\u0438\u043d\u0430\u0446\u0438\u044f \u043e\u0441\u043d\u043e\u0432\u043d\u044b\u0445 \u0432\u0430\u0440\u0438\u0430\u043d\u0442\u043e\u0432 \u043f\u043e\u0441\u043b\u0435\u0434\u043e\u0432\u0430\u0442\u0435\u043b\u044c\u043d\u043e\u0441\u0442\u0435\u0439 \u0438 \u043e\u0441\u043d\u043e\u0432\u043d\u044b\u0445 \u043a\u043e\u043c\u043f\u043e\u043d\u0435\u043d\u0442\u043e\u0432, \u0441\u0432\u044f\u0437\u0430\u043d\u043d\u044b\u0445 \u0441 \u0438\u0437\u043c\u0435\u043d\u0435\u043d\u0438\u0435\u043c \u0433\u0435\u043d\u043e\u043c\u0438\u043a\u0438, \u043e\u0441\u043d\u043e\u0432\u0430\u043d\u043d\u043e\u0439 \u043d\u0430 \u043e\u0446\u0435\u043d\u043a\u0435 \u0445\u0438\u0440\u0443\u0440\u0433\u0438\u0447\u0435\u0441\u043a\u043e\u0433\u043e \u0432\u043c\u0435\u0448\u0430\u0442\u0435\u043b\u044c\u0441\u0442\u0432\u0430, \u043d\u0430 \u043e\u0441\u043d\u043e\u0432\u0435 \u0433\u0435\u043d\u043e\u043c\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u044b: \u043f\u0440\u0438\u043b\u043e\u0436\u0435\u043d\u0438\u0435, \u0441\u043e\u0434\u0435\u0440\u0436\u0430\u0449\u0435\u0435 \u0438\u043d\u0444\u043e\u0440\u043c\u0430\u0446\u0438\u044e \u043e \u0433\u0435\u043d\u043e\u043c\u043d\u044b\u0445 \u043c\u0435\u0442\u043e\u0434\u0430\u0445, \u043a\u043e\u0442\u043e\u0440\u044b\u0435 \u0438\u0441\u043f\u043e\u043b\u044c\u0437\u0443\u044e\u0442\u0441\u044f \u0432 \u0438\u043d\u0434\u0438\u0432\u0438\u0434\u0443\u0430\u043b\u044c\u043d\u043e\u043c \u043f\u043e\u0440\u044f\u0434\u043a\u0435 \u0434\u043b\u044f \u043a\u0430\u0436\u0434\u043e\u0433\u043e \u0438\u043d\u0434\u0438\u0432\u0438\u0434\u0443\u0430\u043b\u044c\u043d\u043e\u0433\u043e \u043f\u043e\u043b\u044c\u0437\u043e\u0432\u0430\u0442\u0435\u043b\u044f.<\/p>\n\n

Como a disponibilidade do sequenceciamento do genoma inteiro era bastante limitada at\u00e9 recntemente e leva um tempo important para traduzir pesquisas de ponta em pr\u00e1tica cl\u00ednica, a medicina gen\u00f4mica ainda est\u00e1 em seus est\u00e1gios iniciais. No entanto, ainda hoje est\u00e1 contribuindo importantamente para a melhoria dos resultados do tratamento e esse impacto aumentar\u00e1 em ordens de magnitude nos pr\u00f3ximos anos, \u00e0 medida que nossa Capacidade de entender e analisar o genomacontina melhorar.<\/p>\n\n

Como a gen\u00f4mica est\u00e1 transformando a pratica da medicina hoje<\/strong><\/h4>\n\n

Embora a medicina gen\u00f4mica ainda esteja em seus est\u00e1gios iniciais, ela j\u00e1 teve impactos positivos profundos nos diagn\u00f3sticos cl\u00ednicos, tratamentos e ferramentas de tomada de decis\u00e3o em muitas disclinas da medicina.<\/p>\n\n

H\u00e1 algum tempo, temos a Capcidade de usar testes gen\u00e9ticos para Diagnosticar doen\u00e7as gen\u00e9ticas simples, como fibrose c\u00edstica, falciforme ou doen\u00e7a de Tay-Sachs. \u041d\u0435\u0442 \u044d\u043d\u0442\u0443\u0437\u0438\u0430\u0437\u043c\u0430, avan\u00e7os recntes na medicina gen\u00f4mica nos deram a Capcidade de usar dados gen\u00f4micos \u0434\u043b\u044f \u043f\u043e\u043b\u0443\u0447\u0435\u043d\u0438\u044f \u0438\u043d\u0444\u043e\u0440\u043c\u0430\u0446\u0438\u0438 sobre o risco de um indiv\u00edduo desenvolver doen\u00e7as com components gen\u00e9ticos mais complexos. Um exemplo bem conhecido \u00e9 que os indiv\u00edduos com certas muta\u00e7\u00f5es na supress\u00e3o de \u043e\u043f\u0443\u0445\u043e\u043b\u044c BRCA1<\/em> \u044d \/ \u043e\u0443 BRCA2<\/em> os genes t\u00eam muito mais probabilidade de desenvolver c\u00e2ncer de mama do que os indiv\u00edduos sem essas muta\u00e7\u00f5es. Um indiv\u00edduo que passou por Sequenciamento de todo o genoma de alta cobertura<\/a> \u041f\u043e\u0434\u0434\u0435\u0442\u0435\u0440\u043c\u0438\u043d\u0430\u0440\u043d\u043e \u0432\u044b\u0431\u0438\u0440\u0430\u044e\u0442 \u044d\u0442\u0438 \u0433\u0435\u043d\u044b \u0438\u043b\u0438 \u043d\u0435 \u0438\u0437\u043c\u0435\u043d\u044f\u044e\u0442 \u0438\u0445. Se o fizerem, podem tomar medidas para reduzir o risco de c\u00e2ncer de mama, como tomar certos medicamentos \u0433\u043e\u0440\u043c\u043e\u043d\u0430\u043b\u044c\u043d\u044b\u0439 \u043f\u0440\u043e\u0444\u0438\u043b\u0430\u043a\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u0438\u043b\u0438 fazer exames regames de mama.<\/p>\n\n

Outra t\u00e9cnica not\u00e1vel e relativamente Recente \u0434\u043b\u044f prever o risco de doen\u00e7a de um indiv\u00edduo \u00e9 o escore de risco polig\u00eanico. Os escores de risco polig\u00eanico somam os efeitos das varia\u00e7\u00f5es de muitos Genes Diferentes de um indiv\u00edduo para calcular um escore que preveja a suscetibilidade do indiv\u00edduo a uma doen\u00e7a. Os cientistas t\u00eam criado rapidamente muitos novos escores de risco polig\u00eanico para prever a suscetibilidade a muitas condi\u00e7\u00f5es. Algumas pontua\u00e7\u00f5es de risco comumente relatadas em testes gen\u00e9ticos atuais fornecem informa\u00e7\u00f5es sobre o risco de um indiv\u00edduo desenvolver doen\u00e7a card\u00edaca e dia Dia 2 no Futuro.<\/p>\n\n

Al\u00e9m de prever o risco de doen\u00e7as e ajudar a tomar medidas prevtivas, \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e gen\u00f4mica j\u00e1 est\u00e1 sendo usada para administrar terapias personalizadas a pacientes que s\u00e3o mais eficazes do que as terap\u00eauticas tradicionais. Um dos Principais campos de aplica\u00e7\u00e3o da medicina gen\u00f4mica para esse prop\u00f3sito \u00e9 oncologia. Ao \u0441\u0435\u043a\u0432\u0435\u043d\u0438\u0440\u043e\u0432\u0430\u043d\u043d\u044b\u0435, \u043a\u0430\u043a \u0430\u043c\u043e\u0441\u0442\u0440\u044b, \u0434\u0435\u043b\u0430\u044e\u0442 \u043e\u043f\u0443\u0445\u043e\u043b\u044c de um paciente, os medicos podem recomendar tratamentos com base nas muta\u00e7\u00f5es que o \u043e\u043f\u0443\u0445\u043e\u043b\u0435\u0432\u044b\u0435 \u0432\u043e\u0437\u043c\u043e\u0436\u043d\u043e\u0441\u0442\u0438. Uma vez que esses tratamentos visam o \u043e\u043f\u0443\u0445\u043e\u043b\u044c com base em muta\u00e7\u00f5es que o diferenciam das c\u00e9lulas normais do corporation, eles geralmente s\u00e3o \u0437\u043d\u0430\u0447\u0438\u0442\u0435\u043b\u044c\u043d\u043eativamente mais eficazes e causam menos efeitos colaterais do que os tratamentos tradicionais de c\u00e2\u00e7ioter, como. Um exemplo relativamente conhecido de um desses tratamentos \u00e9 classe de medicamentos de imunoterapia contra o c\u00e2ncer conhecidos como inibidores de checkpoint, que s\u00e3o usados para tratar v\u00e1rios tipos Diferentes de c\u00e2ncer. V\u00e1rios desses medicamentos atuam visando a prote\u00edna PD-L1, que \u00e9 codificada pelo CD274<\/em> \u0433\u0435\u043d \u0435 ajuda \u043a\u0430\u043a c\u00e9lulas Cancerosas \u043a\u0430\u043a evitarem \u0434\u0435\u0442\u0435\u043a\u0446\u0438\u044f pelo sistema imunol\u00f3gico. \u041f\u043e\u0440\u0442\u0430\u043d\u0442\u043e, \u043f\u043e\u0441\u043b\u0435\u0434\u043e\u0432\u0430\u0442\u0435\u043b\u044c\u043d\u043e\u0435 \u043e\u043f\u0440\u0435\u0434\u0435\u043b\u0435\u043d\u0438\u0435 \u043e\u043f\u0443\u0445\u043e\u043b\u0438 \u0438 \u043f\u043e\u0434\u0442\u0432\u0435\u0440\u0436\u0434\u0435\u043d\u0438\u0435 \u0435\u0435 \u044d\u043a\u0441\u043f\u0440\u0435\u0441\u0441\u0438\u0438 \u043e\u043f\u0443\u0445\u043e\u043b\u0438 \u0438\u043b\u0438 \u043e\u0442\u0441\u0443\u0442\u0441\u0442\u0432\u0438\u0435 PD-L1, \u0430 \u0442\u0430\u043a\u0436\u0435 \u043f\u043e\u0432\u044b\u0448\u0435\u043d\u0438\u0435 \u0435\u0435 \u0441\u043f\u043e\u0441\u043e\u0431\u043d\u043e\u0441\u0442\u0438 \u043a \u0434\u0435\u0439\u0441\u0442\u0432\u0438\u044e \u043e\u043f\u0443\u0445\u043e\u043b\u0438. Para enfatizar o qu\u00e3o avan\u00e7ada \u00e9 a abordagem da medicina gen\u00f4mica \u00e0 oncologia, \u043e\u0434\u043e\u0431\u0440\u0435\u043d FDA em 2017 de um inibidor de checkpoint, o pembrolizumabe, foi a primeira vez que aprovou um medicamento contra o c\u00e2ncezr com base na gen\u00e9e \u0442\u0438\u043f\u043e \u0434\u0435 \u0442\u0435\u043a\u0438\u0434\u043e \u0438\u043b\u0438 \u043c\u0435\u0441\u0442\u043d\u0430\u044f \u043e\u043f\u0443\u0445\u043e\u043b\u044c.<\/p>\n\n

\u041d\u0435\u0442 \u044d\u043d\u0442\u0430\u043d\u0442\u043e, \u044d\u0442\u043e \u043c\u043e\u0436\u0435\u0442 \u0431\u044b\u0442\u044c \u0438\u043d\u0434\u0438\u0432\u0438\u0434\u0443\u0430\u043b\u044c\u043d\u044b\u0439 \u043f\u043e\u0434\u0445\u043e\u0434, \u043e\u0441\u043d\u043e\u0432\u0430\u043d\u043d\u044b\u0439 \u043d\u0430 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445 \u043c\u0430\u0442\u0435\u0440\u0438\u0430\u043b\u0430\u0445, \u043a\u043e\u0442\u043e\u0440\u044b\u0435 \u043d\u0435 \u043f\u0440\u0438\u043c\u0435\u043d\u044f\u044e\u0442\u0441\u044f \u0432 \u043e\u043f\u0443\u0445\u043e\u043b\u044f\u0445 \u0438 \u043e\u043d\u043a\u043e\u043b\u043e\u0433\u0438\u0438. O campo Emergente da farmacogen\u00f4mica, uma aplica\u00e7\u00e3o da medicina gen\u00f4mica, usa informa\u00e7\u00f5es sobre o genoma de uma pessoa para ajudar a \u0434\u0435\u0442\u0435\u0440\u043c\u0438\u043d\u0430\u043d\u0442 quais medicamentos e tratamentos s\u00e3o mais \u0430\u0434\u0435\u043a\u0432\u0430\u0442\u043d\u043e \u043a\u0430\u043a suas needidades. A farmacogen\u00f4mica est\u00e1 atualmente ganhando for\u00e7a na psiquiatria, pois estudos recntes sugeriram que o perfil gen\u00e9tico de um indiv\u00edduo pode ser usado \u0434\u043b\u044f \u0434\u0435\u0442\u0435\u0440\u043c\u0438\u043d\u0438\u0440\u043e\u0432\u0430\u043d\u043d\u043e\u0433\u043e \u043a\u0430\u0447\u0435\u0441\u0442\u0432\u0430 \u0430\u043d\u0442\u0438\u0434\u0435\u043f\u0440\u0435\u0441\u0441\u0438\u0432\u043d\u043e\u0433\u043e \u0438 quais medicamentos antipsic\u00f3ticos ser\u00e3o mais eficazes para eles.<\/p>\n\n

Um dos avan\u00e7os mais avan\u00e7ados na medicina gen\u00f4mica \u00e9 a terapia gen\u00e9tica, que ocorre quando um dist\u00farbio \u00e9 tratado pela insert\u00e7\u00e3o de um gene nas c\u00e9lulas do paciente or pela desativa\u00e7\u00e3o de um gene mutado que estoramenando. Um m\u00e9todo comum de fazer isso \u00e9 tirar vantagem de certos tipos de v\u00edrus que invadem as c\u00e9lulas e injetam seu pr\u00f3prio DNA nos cromossomos da c\u00e9lula. Os cientistas usam v\u00edrus modificados que injetam c\u00f3digo gen\u00e9tico \u00fatil em vez de seu proprio material gen\u00e9tico para consertar \u0433\u0435\u043d\u044b, \u043a\u043e\u0442\u043e\u0440\u044b\u0435 \u043d\u0435 \u0438\u043c\u0435\u044e\u0442 \u0444\u0443\u043d\u043a\u0446\u0438\u0438 \u0438\u0441\u043f\u0440\u0430\u0432\u043b\u0435\u043d\u0438\u044f. Fazendo isso, eles podem tratar e, \u00e0s vezes, curar doen\u00e7as gen\u00e9ticas. Neste momento, apenas um punhado de terapias gen\u00e9ticas s\u00e3o aprovado pelo FDA<\/a> Para uso cl\u00ednico nos EUA para o tratamento de condi\u00e7\u00f5es como atrofia muscular espinhal ou distrofia retiniana. No entanto, muitas novas terapias est\u00e3o atualmente passando por testes cl\u00ednicos.<\/p>\n\n

\u041e \u0444\u0443\u0442\u0443\u0440\u043e \u0434\u0430 \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e \u0433\u0435\u043d\u043e\u043c\u0438\u043a\u0430<\/strong><\/h4>\n\n

Embora seja um campo relativamente novo, \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e gen\u00f4mica j\u00e1 causou mudan\u00e7asignativas em muitos aspectos da sa\u00fade. \u041d\u0435\u0442 \u044d\u043d\u0442\u0430\u043d\u0442\u043e, \u0432 medida que nossa Capacidade de entender e analysis of genoma melhora com o tempo, o impacto da gen\u00f4mica m\u00e9dica aumentar\u00e1 drasticamente.<\/p>\n\n

O custo de todo o sequenceciamento do genoma caiu exponencialmente econtinar\u00e1 a cair no futuro at\u00e9 que esteja prontamente dispon\u00edvel a um pre\u00e7o acess\u00edvel todos. Como outros problemas que impedem as pessoas de serem sequenceciadas, como Privacidade<\/a> preocupa\u00e7\u00f5es tamb\u00e9m s\u00e3o abordadas, haver\u00e1 um aumento \u0437\u043d\u0430\u0447\u0438\u0442\u0435\u043b\u044c\u043d\u043e no n\u00famero de pessoas que s\u00e3o sequenceciadas e uma explos\u00e3o de dados gen\u00f4micos dispon\u00edveis para serem usados em pesquisas. Com esses dados, os pesquisadores ser\u00e3o capazes de melhorar mais rapidamente nossa compreens\u00e3o do genoma humano, Expandedo Meaning as Capacidades da medicina gen\u00f4mica.<\/p>\n\n

Conjuntos de dados gen\u00f4micos maiores permissionir\u00e3o aos pesquisadores obter uma compreens\u00e3o melhorada do grau em que muitas doen\u00e7as e condi\u00e7\u00f5es s\u00e3o causadas pela gen\u00e9tica de um indiv\u00edduo e Uma Capacidade base melhorada de med\u00f5\u00e7\u00eds de med\u00f5\u00e7as do dosisposiosi. Uma melhor compreens\u00e3o da gen\u00e9tica subjacente a condi\u00e7\u00f5es espec\u00edficas tamb\u00e9m ajudar\u00e1 a fornecer informa\u00e7\u00f5es sobre os mecanismos celulares subjacentes a essas condi\u00e7\u00f5es, o que dar\u00e1 aos cientistas novos insights sobre cuo desenvos. Por causa disso, os indiv\u00edduos que t\u00eam seus genomas Sequenciados ser\u00e3o capazes de obter insights muito mais abrangentes e personalizados sobre as doen\u00e7as a que s\u00e3o suscet\u00edveis e Receber informa\u00e7\u00f5es acion\u00e1veis sobre medidas \u043f\u0440\u0435\u0432\u0435\u043d\u0442\u0438\u0432\u044b que podemutes de rela \u0428\u0430\u043d\u0441\u044b \u043d\u0430 \u044d\u043a\u0441\u043f\u0435\u0440\u0438\u043c\u0435\u043d\u0442\u0430\u043b\u044c\u043d\u044b\u0435 \u0443\u0441\u043b\u043e\u0432\u0438\u044f.<\/p>\n\n

\u00c9 importante ressaltar que os elementos gen\u00e9ticos subjacentes \u00e0s condi\u00e7\u00f5es mais comuns tamb\u00e9m ser\u00e3o melhor compreendidos. Por excemplo, seu genoma predisp\u00f5e voice\u00ea \u00e0 obesidade, seu m\u00e9dico ir\u00e1 inform\u00e1-lo e dar-lhe conselhos personalizados sobre mudan\u00e7as no estilo de vida para ajudar a previr que v\u00ea se torne obeso. A pesquisa j\u00e1 come\u00e7ou sobre a gen\u00e9tica subjacente a muitas condi\u00e7\u00f5es comuns, como doen\u00e7as card\u00edacas e \u0434\u0438\u0430\u0431\u0435\u0442, mas eles ainda n\u00e3o s\u00e3o bem compreendidos.<\/p>\n\n

\u0412 \u0447\u0430\u0441\u0442\u043d\u043e\u0441\u0442\u0438, indiv\u00edduos com Doen\u00e7as Rras<\/a> Podem se beneficiar de uma maior disponibilidade dequenciamento gen\u00f4mico. Como n\u00e3o existem muitos pacientes com doen\u00e7as raras, \u00e9 diff\u00edcil para os pesquisadores obterem dados suficientes para estudos sobre essas doen\u00e7as. Tornar o sequenceciamento gen\u00f4mico mais acess\u00edvel, atraente e acess\u00edvel para pesquisa ajudar\u00e1 os pesquisadores a obter os dados de que Precisam para compreender a gen\u00e9tica subjacente a essas condi\u00e7\u00f5es e desenvolver melhores \u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0430 \u0438 \u0442\u0435\u0440\u0430\u043f\u0438\u044f.<\/p>\n\n

Al\u00e9m disso, disponibilidade mais ampa de sequenceciamento gen\u00f4mico nos perval\u00eancia reduzir muito or totalmente preval\u00eancia de muitas doen\u00e7as gen\u00e9ticas com m\u00e9todos de heran\u00e7a simples, como fibrose c\u00edstica ou doen\u00e7a de Tay-Sachs. Se todos estiverem sequenceciados e cientes de serem ou n\u00e3o portadores de alguns desses dist\u00farbios, eles podem tomar medidas de cau\u00e7\u00e3o para garantir que seus filhos n\u00e3o herdem as doen\u00e7as. Por exemplo, \u043c\u043e\u0436\u043d\u043e \u0438\u0441\u043f\u043e\u043b\u044c\u0437\u043e\u0432\u0430\u0442\u044c \u043e\u043f\u043b\u043e\u0434\u043e\u0442\u0432\u043e\u0440\u0435\u043d\u0438\u0435 in vitro \u0434\u043b\u044f \u0433\u0430\u0440\u0430\u043d\u0442\u0438\u0438 \u0442\u043e\u0433\u043e, \u0447\u0442\u043e \u0441\u043e\u0441\u0442\u043e\u044f\u043d\u0438\u0435 \u043d\u0435 \u0438\u0441\u043f\u043e\u043b\u044c\u0437\u0443\u0435\u0442\u0441\u044f \u0434\u043b\u044f \u043f\u0435\u0440\u0435\u0434\u0430\u0447\u0438 \u0434\u0430\u043d\u043d\u044b\u0445 \u043f\u043e \u043f\u043e\u0442\u043e\u043c\u043a\u0430\u043c. Ao ellear ou reduzir a preval\u00eancia desses dist\u00farbios, muitas pessoas podem ser impedidas de sofrer eo sistema de sa\u00fade pode se tornar mais eficiente.<\/p>\n\n

Por fim, \u00e0 medida que os mecanismos subjacentes \u00e0s doen\u00e7as gen\u00e9ticas s\u00e3o mais bem compreendidos e as t\u00e9cnicas de edi\u00e7\u00e3o de genes como o CRISPR-Cas9 s\u00e3o aperfei\u00e7oadas, seremos capazes de usar ess\u00e7as t\u00e9calanicas del muitasnicas. Com a edi\u00e7\u00e3o de genes, os cientistas ser\u00e3o capazes de tratar ou at\u00e9 mesmo curar doen\u00e7as gen\u00e9ticas, alterando quaisquer variantes gen\u00e9ticas que as estejam causando e restaurant a fun\u00e7\u00e3o normal. Enquanto as c\u00e9lulas germinativas (\u00f3vulos e espermatoz\u00f3ides) n\u00e3o forem editadas, essas altera\u00e7\u00f5es gen\u00e9ticas n\u00e3o devem ser Transmitidas aos descendentes dos indiv\u00edduos tratados.<\/p>\n\n

O que os consumidores devem saber sobre gen\u00f4mica pessoal<\/strong><\/h4>\n\n

Est\u00e1 Claro Que OS Benef\u00edcios do Avan\u00e7o da medicina gen\u00f4mica ser\u00e3o grandes. \u041d\u0435\u0442 entanto, existem preocupa\u00e7\u00f5es em rela\u00e7\u00e3o \u00e0 gen\u00f4mica e \u00e0 privacidade que qualquer pessoa que esteja pensando em Participar da medicina ou pesquisa gen\u00f4mica deve estar ciente. Se Voc\u00ea tiver seu genoma sequenceciado \u0434\u043b\u044f \u0442\u043e\u0433\u043e, \u0447\u0442\u043e\u0431\u044b \u0443\u0447\u0430\u0441\u0442\u0432\u043e\u0432\u0430\u0442\u044c, Voc\u00ea deve estar ciente de quem ter\u00e1 acesso aos seus dados posteriormente. Muitos atuais diretos para empresas de testes gen\u00e9ticos de consumo vendem os dados de seus usu\u00e1rios para empresas farmac\u00eauticas<\/a> . Embora acreditemos claramente que \u00e9 ben\u00e9fico disponibilizar mais dados gen\u00f4micos aos pesquisadores, tamb\u00e9m acreditamos que seus dados gen\u00f4micos pertencem v\u00ea, portanto, voice\u00ea deve tercontrole total sobre exatamente quem tem acesso aos seus dados. \u042d\u0442\u043e \u043f\u043b\u0430\u0442\u0444\u043e\u0440\u043c\u0430 Nebula d\u00e1 Voc\u00ea a escolha de comparehar ou n\u00e3o seus dados gen\u00f4micos an\u00f4nimos com pesquisadores, caso a caso, ecompensa voice\u00ea se voc\u00ea decidir compareh\u00e1-los com eles.<\/p>\n\n

Al\u00e9m disso, dependendo de onde voice\u00ea mora, \u0432\u043e\u0437\u043c\u043e\u0436\u043d\u043e, \u043a\u0430\u043a seguradoras usem seus dados gen\u00f4micos para Definir os pre\u00e7os para vo\u00ea. Nos Estados Unidos, o Lei de N\u00e3o Discrimina\u00e7\u00e3o de Informa\u00e7\u00e3o Gen\u00e9tica de 2008 (GINA)<\/a> \u043f\u0440\u0435\u043f\u044f\u0442\u0441\u0442\u0432\u043e\u0432\u0430\u0442\u044c \u0442\u043e\u043c\u0443, \u043a\u0430\u043a seguradoras \u0434\u0435 \u0441\u0430\u0443\u0434\u0435 \u0434\u0438\u0441\u043a\u0440\u0438\u043c\u0438\u043d\u0430\u0446\u0438\u0438 \u0438\u043d\u0434\u0438\u0432\u0438\u0434\u043e\u0432 \u043d\u0430 \u043e\u0441\u043d\u043e\u0432\u0435 \u0438\u0445 seus dados gen\u00e9ticos. No entanto, outros tipos de seguradoras, como vida ou \u0438\u043d\u0432\u0430\u043b\u0438\u0434\u044b, ainda podem usar seus dados para Definir pre\u00e7os, se desejarem. Na Nebula, estamos desenvolvendo t\u00e9cnicas criptogr\u00e1ficas<\/a> Para garantir que apenas voice\u00ea e aqueles com quem voice\u00ea escolher explicitamente comparehar seus dados Possam v\u00ea-los.<\/p>\n\n

\u00c9 importante notar que, \u00e0 medida que a medicina gen\u00f4mica avan\u00e7a, os riscos de privacidade imstos aos indiv\u00edduos tamb\u00e9m aumentam. Os cientistas j\u00e1 est\u00e3o trabalhando em algoritmos para deix\u00e1-los gerar uma aproxima\u00e7\u00e3o do rosto de uma pessoa<\/a> usando seus dados gen\u00f4micos. \u00c0 medida que essas t\u00e9cnicas avan\u00e7am no futuro, ser\u00e1 ainda mais f\u00e1cil para as pessoas usarem seus dados gen\u00f4micos an\u00f4nimos para Identific\u00e1-lo e obter grandes quantidades de informa\u00e7\u00f5es sobre v\u00ea\u00ea.<\/p>\n\n

Em \u00faltima an\u00e1lise, \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e gen\u00f4mica tem o Potencial de fazer mudan\u00e7as positivas extraordin\u00e1rias na \u00e1rea da sa\u00fade se mais dados gen\u00f4micos form disponibilizados aos pesquisadores, mas devemos garantir que esses dados form ejam usados dexa. Nosso objetivo na Nebula — \u044d\u0442\u043e \u0440\u0430\u0437\u0440\u0435\u0448\u0435\u043d\u0438\u0435, \u043a\u043e\u0442\u043e\u0440\u043e\u0435 \u0438\u0441\u043f\u043e\u043b\u044c\u0437\u0443\u0435\u0442\u0441\u044f, seja sequenceciado a um pre\u00e7o acess\u00edvel, mantendo a propriedade de seus dados e allowindo que v\u00ea comptilhe esses dados de forma segura e an\u00f4nima com pesquisadores para ajudar a progredir na medicina demicasemeica.<\/p>\n","protected":false},"excerpt":{"rendered":"

Editado por Christina Swords, Ph.D. O que \u00e9 medicina gen\u00f4mica? Gen\u00f4mica \u00e9 o estudo do c\u00f3digo gen\u00e9tico complete de um organismo or sequ\u00eancia de DNA, e como os genes constitu\u00eddos por esse DNA interragem entre si e com o ambiente …<\/p>\n

\u041e \u0444\u0443\u0442\u0443\u0440\u043e \u0434\u0430 \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e \u0433\u0435\u043d\u043e\u043c\u0438\u043a\u0430<\/span> \u0427\u0438\u0442\u0430\u0442\u044c \u0434\u0430\u043b\u0435\u0435 \u00bb<\/a><\/p>\n","protected":false},"author":18,"featured_media":4598,"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":[4975],"tags":[],"class_list":["post-14461","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-4975"],"yoast_head":"\n\u041e \u0444\u0443\u0442\u0443\u0440\u043e \u0434\u0430 \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u043e \u0433\u0435\u043d\u043e\u043c\u0438\u043a\u0430 | Nebula Genomics<\/title>\n<meta name=\"description\" content=\"Gen\u00f4mica medicina - 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