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公共卫生保健医院中的癌症遗传咨询:巴西三家机构的经验。

Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.

作者信息

Palmero Edenir Inez, Kalakun Luciane, Schüler-Faccini Lavinia, Giugliani Roberto, Regla Vargas Fernando, Rocha José Cláudio C, Ashton-Prolla Patricia

机构信息

Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

出版信息

Community Genet. 2007;10(2):110-9. doi: 10.1159/000099089.

Abstract

In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located in tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure and characteristics of three cancer genetic services in Brazilian public health care hospitals and discuss alternatives for the identification and prevention of hereditary cancer syndromes in developing countries. The three services presented here are similar in their structure, routine procedures for cancer risk estimation and criteria for the indication of genetic testing. They all demand that genetic counseling be an essential part of the cancer risk evaluation process, before and after cancer predisposition testing. However, when high-risk patients are identified, all services describe difficulties in the access and continuity of genetic and medical services to the patient and his/her at-risk relatives. The services differ in the type of population served, reflecting distinct referral guidelines. This study emphasizes the importance of the creation of new cancer genetic services in other Brazilian regions and the necessity for establishing a collaborative network to facilitate the diagnosis and research of cancer genetic syndromes.

摘要

在巴西,遗传咨询通常可在位于提供癌症诊断和治疗的三级中心的大学附属医学遗传学服务机构获得。本研究旨在描述巴西公共卫生保健医院中三项癌症遗传服务的结构和特点,并讨论发展中国家识别和预防遗传性癌症综合征的替代方案。这里介绍的三项服务在其结构、癌症风险评估的常规程序以及基因检测指征标准方面相似。它们都要求遗传咨询成为癌症风险评估过程中癌症易感性检测前后的重要组成部分。然而,当识别出高危患者时,所有服务都描述了患者及其高危亲属在获得遗传和医疗服务以及服务连续性方面存在困难。这些服务在服务人群类型上有所不同,反映了不同的转诊指南。本研究强调在巴西其他地区创建新的癌症遗传服务的重要性以及建立协作网络以促进癌症遗传综合征诊断和研究的必要性。

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