The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil

Detalhes bibliográficos
Autor(a) principal: Lajus, Tirzah Braz Petta
Data de Publicação: 2015
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista de Saúde Pública
Texto Completo: https://www.revistas.usp.br/rsp/article/view/130480
Resumo: The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.
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spelling The importance to update the guidelines for the use of genetic testing in noncancer patients in BrazilSaúde SuplementarSistemas Pré-Pagos de SaúdeCobertura de Serviços Privados de SaúdeTestes GenéticosPredisposição Genética para DoençaNeoplasiasdiagnósticoSupplemental HealthHealth Maintenance OrganizationsPrivate Health Care CoverageGenetic TestingGenetic Predisposition to DiseaseNeoplasmsdiagnosisThe Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.Recentemente a Agência Nacional de Saúde publicou nota técnica que define os critérios para a cobertura de teste genético para diagnóstico de câncer hereditário. Aqui mostramos o caso de uma paciente com nódulo benigno na mama e com extenso histórico de câncer, e que foi encaminhada a um serviço privado de aconselhamento genético. A paciente se enquadra em ambos critérios para rastreamento de síndrome de câncer de mama e colorretal hereditário. O seguro de saúde da paciente negou o pedido de realização do teste genético por ausência de diagnóstico atual ou prévio de câncer. A paciente recorreu judicialmente, o tribunal foi favorável e o teste foi realizado utilizando sequenciamento de próxima geração. A deleção do exon 8 do gene MLH1 foi encontrada. Destacamos a importância de se oferecer testes genéticos pela análise multigene para pacientes sem câncer.Universidade de São Paulo. Faculdade de Saúde Pública2015-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/rsp/article/view/13048010.1590/S0034-8910.2015049005988Revista de Saúde Pública; Vol. 49 (2015); 71Revista de Saúde Pública; Vol. 49 (2015); 71Revista de Saúde Pública; v. 49 (2015); 711518-87870034-8910reponame:Revista de Saúde Públicainstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/rsp/article/view/130480/126911Copyright (c) 2017 Revista de Saúde Públicainfo:eu-repo/semantics/openAccessLajus, Tirzah Braz Petta2017-09-27T11:03:38Zoai:revistas.usp.br:article/130480Revistahttps://www.revistas.usp.br/rsp/indexONGhttps://www.revistas.usp.br/rsp/oairevsp@org.usp.br||revsp1@usp.br1518-87870034-8910opendoar:2017-09-27T11:03:38Revista de Saúde Pública - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
spellingShingle The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
Lajus, Tirzah Braz Petta
Saúde Suplementar
Sistemas Pré-Pagos de Saúde
Cobertura de Serviços Privados de Saúde
Testes Genéticos
Predisposição Genética para Doença
Neoplasias
diagnóstico
Supplemental Health
Health Maintenance Organizations
Private Health Care Coverage
Genetic Testing
Genetic Predisposition to Disease
Neoplasms
diagnosis
title_short The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title_full The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title_fullStr The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title_full_unstemmed The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title_sort The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
author Lajus, Tirzah Braz Petta
author_facet Lajus, Tirzah Braz Petta
author_role author
dc.contributor.author.fl_str_mv Lajus, Tirzah Braz Petta
dc.subject.por.fl_str_mv Saúde Suplementar
Sistemas Pré-Pagos de Saúde
Cobertura de Serviços Privados de Saúde
Testes Genéticos
Predisposição Genética para Doença
Neoplasias
diagnóstico
Supplemental Health
Health Maintenance Organizations
Private Health Care Coverage
Genetic Testing
Genetic Predisposition to Disease
Neoplasms
diagnosis
topic Saúde Suplementar
Sistemas Pré-Pagos de Saúde
Cobertura de Serviços Privados de Saúde
Testes Genéticos
Predisposição Genética para Doença
Neoplasias
diagnóstico
Supplemental Health
Health Maintenance Organizations
Private Health Care Coverage
Genetic Testing
Genetic Predisposition to Disease
Neoplasms
diagnosis
description The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.
publishDate 2015
dc.date.none.fl_str_mv 2015-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.revistas.usp.br/rsp/article/view/130480
10.1590/S0034-8910.2015049005988
url https://www.revistas.usp.br/rsp/article/view/130480
identifier_str_mv 10.1590/S0034-8910.2015049005988
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://www.revistas.usp.br/rsp/article/view/130480/126911
dc.rights.driver.fl_str_mv Copyright (c) 2017 Revista de Saúde Pública
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2017 Revista de Saúde Pública
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidade de São Paulo. Faculdade de Saúde Pública
publisher.none.fl_str_mv Universidade de São Paulo. Faculdade de Saúde Pública
dc.source.none.fl_str_mv Revista de Saúde Pública; Vol. 49 (2015); 71
Revista de Saúde Pública; Vol. 49 (2015); 71
Revista de Saúde Pública; v. 49 (2015); 71
1518-8787
0034-8910
reponame:Revista de Saúde Pública
instname:Universidade de São Paulo (USP)
instacron:USP
instname_str Universidade de São Paulo (USP)
instacron_str USP
institution USP
reponame_str Revista de Saúde Pública
collection Revista de Saúde Pública
repository.name.fl_str_mv Revista de Saúde Pública - Universidade de São Paulo (USP)
repository.mail.fl_str_mv revsp@org.usp.br||revsp1@usp.br
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