Cargando…
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...
Autor principal: | |
---|---|
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 |
_version_ | 1782393305278971904 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4593327 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Faculdade de Saúde Pública da Universidade de São Paulo |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT lajustirzahbrazpetta theimportancetoupdatetheguidelinesfortheuseofgenetictestinginnoncancerpatientsinbrazil AT lajustirzahbrazpetta importancetoupdatetheguidelinesfortheuseofgenetictestinginnoncancerpatientsinbrazil |