Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil

Detalhes bibliográficos
Autor(a) principal: Prolla, Patrícia Ashton
Data de Publicação: 2015
Outros Autores: Goldim, José Roberto, Vairo, Filippo Pinto e, Matte, Ursula da Silveira, Sequeiros, Jorge
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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spelling 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.
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dc.relation.ispartof.pt_BR.fl_str_mv Journal of community genetics. Heidelberg. Vol. 6, no. 3 (Jul. 2015), p. 275-283
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