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

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 o...

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Autor principal: Lajus, Tirzah Braz Petta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Faculdade de Saúde Pública da Universidade de São Paulo 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593327/
https://www.ncbi.nlm.nih.gov/pubmed/26465663
http://dx.doi.org/10.1590/S0034-8910.2015049005988
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author Lajus, Tirzah Braz Petta
author_facet Lajus, Tirzah Braz Petta
author_sort Lajus, Tirzah Braz Petta
collection PubMed
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.
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spelling pubmed-45933272015-10-16 The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil Lajus, Tirzah Braz Petta Rev Saude Publica Comunicação Breve 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. Faculdade de Saúde Pública da Universidade de São Paulo 2015-10-02 /pmc/articles/PMC4593327/ /pubmed/26465663 http://dx.doi.org/10.1590/S0034-8910.2015049005988 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Comunicação Breve
Lajus, Tirzah Braz Petta
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
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_short The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil
title_sort importance to update the guidelines for the use of genetic testing in noncancer patients in brazil
topic Comunicação Breve
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593327/
https://www.ncbi.nlm.nih.gov/pubmed/26465663
http://dx.doi.org/10.1590/S0034-8910.2015049005988
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