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更新巴西非癌症患者基因检测使用指南的重要性。

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

作者信息

Lajus Tirzah Braz Petta

机构信息

Departamento de Pesquisa Translacional, Centro Avançado de Oncologia (Cecan), Liga Contra o Câncer, Natal, RN, BR.

出版信息

Rev Saude Publica. 2015;49:71. doi: 10.1590/S0034-8910.2015049005988. Epub 2015 Oct 13.

Abstract

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.

摘要

巴西国家私人健康保险和计划监管机构最近发布了一份技术说明,定义了用于诊断遗传性癌症的基因检测覆盖标准。在本研究中,我们展示了一名患有乳腺病变且有广泛癌症病史的患者被转诊至一家私人遗传咨询服务机构的案例。该患者符合遗传性乳腺癌和结直肠癌综合征筛查的两项标准。她的私人保险拒绝为基因检测提供覆盖,因为她目前或既往均无癌症诊断。在她通过诉讼上诉后,法院做出了有利判决,检测采用下一代测序进行。发现了MLH1外显子8的缺失。我们强调为非癌症患者提供使用多基因分析的基因检测的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/533b/4593327/fcfd96520450/0034-8910-rsp-S0034-89102015049005988-gf01.jpg

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