公共卫生保健医院的癌症遗传咨询:三个巴西服务机构的经验。

Edenir Inez Palmero, Luciane Kalakun, Lavinia Schüler-Faccini, Roberto Giugliani, Fernando Regla Vargas, José Cláudio C Rocha, Patricia Ashton-Prolla
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引用次数: 15

摘要

在巴西,通常在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中提供遗传咨询。本研究旨在描述巴西公共卫生保健医院的三种癌症遗传服务的结构和特点,并讨论在发展中国家识别和预防遗传性癌症综合征的替代方案。这三种服务在结构、癌症风险评估的常规程序和基因检测的适应症标准上都是相似的。他们都要求基因咨询是癌症风险评估过程的重要组成部分,在癌症易感性测试之前和之后。然而,在确定高危患者后,所有服务机构都说明,患者及其高危亲属在获得和持续获得遗传和医疗服务方面存在困难。服务对象不同,反映了不同的转诊指南。这项研究强调了在巴西其他地区建立新的癌症遗传服务的重要性,以及建立一个协作网络以促进癌症遗传综合征的诊断和研究的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.

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.

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