Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/143693 |
Resumo: | Despite 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. |
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Prolla, Patrícia AshtonGoldim, José RobertoVairo, Filippo Pinto eMatte, Ursula da SilveiraSequeiros, Jorge2016-07-19T02:17:49Z20151868-6001http://hdl.handle.net/10183/143693000990964Despite 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.application/pdfengJournal of community genetics. Heidelberg. Vol. 6, no. 3 (Jul. 2015), p. 275-283GenéticaBrasilGenomic analysisNGSGenetic testingGenetic counsellingInformed consentEthical issuesGenomic analysis in the clinic : benefits and challenges for health care professionals and patients in BrazilEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000990964.pdf000990964.pdfTexto completo (inglês)application/pdf217929http://www.lume.ufrgs.br/bitstream/10183/143693/1/000990964.pdf1e69e1aacd88e386e1ad83fc17a1745fMD51TEXT000990964.pdf.txt000990964.pdf.txtExtracted Texttext/plain50208http://www.lume.ufrgs.br/bitstream/10183/143693/2/000990964.pdf.txtffd8eaf96913805a17ecc1056dae3e6dMD52THUMBNAIL000990964.pdf.jpg000990964.pdf.jpgGenerated Thumbnailimage/jpeg1876http://www.lume.ufrgs.br/bitstream/10183/143693/3/000990964.pdf.jpga1122a6a6b32e3e103c8ac078bbcdb52MD5310183/1436932018-10-26 10:22:41.992oai:www.lume.ufrgs.br:10183/143693Repositório InstitucionalPUBhttps://lume.ufrgs.br/oai/requestlume@ufrgs.bropendoar:2018-10-26T13:22:41Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
title |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
spellingShingle |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil Prolla, Patrícia Ashton Genética Brasil Genomic analysis NGS Genetic testing Genetic counselling Informed consent Ethical issues |
title_short |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
title_full |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
title_fullStr |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
title_full_unstemmed |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
title_sort |
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil |
author |
Prolla, Patrícia Ashton |
author_facet |
Prolla, Patrícia Ashton Goldim, José Roberto Vairo, Filippo Pinto e Matte, Ursula da Silveira Sequeiros, Jorge |
author_role |
author |
author2 |
Goldim, José Roberto Vairo, Filippo Pinto e Matte, Ursula da Silveira Sequeiros, Jorge |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Prolla, Patrícia Ashton Goldim, José Roberto Vairo, Filippo Pinto e Matte, Ursula da Silveira Sequeiros, Jorge |
dc.subject.por.fl_str_mv |
Genética Brasil |
topic |
Genética Brasil Genomic analysis NGS Genetic testing Genetic counselling Informed consent Ethical issues |
dc.subject.eng.fl_str_mv |
Genomic analysis NGS Genetic testing Genetic counselling Informed consent Ethical issues |
description |
Despite 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. |
publishDate |
2015 |
dc.date.issued.fl_str_mv |
2015 |
dc.date.accessioned.fl_str_mv |
2016-07-19T02:17:49Z |
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Journal of community genetics. Heidelberg. Vol. 6, no. 3 (Jul. 2015), p. 275-283 |
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