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dc.contributor.authorProlla, Patrícia Ashtonpt_BR
dc.contributor.authorGoldim, José Robertopt_BR
dc.contributor.authorVairo, Filippo Pinto ept_BR
dc.contributor.authorMatte, Ursula da Silveirapt_BR
dc.contributor.authorSequeiros, Jorgept_BR
dc.date.accessioned2016-07-19T02:17:49Zpt_BR
dc.date.issued2015pt_BR
dc.identifier.issn1868-6001pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/143693pt_BR
dc.description.abstractDespite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic diagnosis remains elusive. New genome-wide or high-throughput multiple gene tests have brought new hope to the field, since they can offer fast, cost-effective and comprehensive analysis of genetic variation. This is particularly interesting in disorders with high genetic heterogeneity. There are, however, limitations and concerns regarding the implementation of genomic analysis in everyday clinical practice, including some particular to emerging and developing economies, as Brazil. They include the limited number of actionable genetic variants known to date, difficulties in determining the clinical validity and utility of novel variants, growth of direct-to-consumer genetic testing using a genomic approach and lack of proper training of health care professionals to adequately request, interpret and use genetic information. Despite all these concerns and limitations, the availability of genomic tests has grown at an extremely rapid pace and commercially available services include initiatives in almost all areas of clinical genetics, including newborn and carrier screening. We discuss the benefits and limitations of genomic testing, as well as the ethical implications and the challenges for genetic education and enough available and qualified health care professionals, to ensure the adequate process of informed consent, meaningful interpretation and use of genomic data and definition of a clear regulatory framework in the particular context of Brazil.en
dc.format.mimetypeapplication/pdf
dc.language.isoengpt_BR
dc.relation.ispartofJournal of community genetics. Heidelberg. Vol. 6, no. 3 (Jul. 2015), p. 275-283pt_BR
dc.rightsOpen Accessen
dc.subjectGenomic analysisen
dc.subjectGenéticapt_BR
dc.subjectBrasilpt_BR
dc.subjectNGSen
dc.subjectGenetic testingen
dc.subjectGenetic counsellingen
dc.subjectInformed consenten
dc.subjectEthical issuesen
dc.titleGenomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazilpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000990964pt_BR
dc.type.originEstrangeiropt_BR


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