Introduction

Identifying carriers of genetic mutations that increase the risk of developing cancer allows to adopt timely risk-reducing strategies. However, due to the elevated cost of genetic testing, few oncogenetics services are available in the Brazilian public health care system, especially in economically disadvantaged areas.

Objective

To describe the implementation of an oncogenetics service for patients suspected of hereditary cancer syndromes (HBOC and HNPCC) at a philanthropic referral oncology hospital in Northeastern Brazil, funded by the Ministry of Health's National Oncology Care Support Program (PRONON).

Methods

The service was implemented with the PDCA method (Plan, Do, Check and Act).

Results

During the first year of operation (starting in August 2018), 675 individuals were examined, of whom 272 patients and 98 family members were submitted to genetic testing. This included the collection of 338 DNA samples of which 300 were sequenced. The analysis identified 48 (17.1%) mutations for HBOC and 19 (6.8%) for HNPCC.

Conclusion

In one year, the oncogenetics service was able to benefit over 300 families by generating advanced molecular data which may be used for tailoring cancer prevention and management.

中文翻译：

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如何为公共卫生系统构建致癌基因服务：巴西东北部首项服务实施报告

介绍

鉴定出增加罹患癌症风险的遗传突变携带者，可以采取及时的降低风险策略。但是，由于基因测试的成本增加，在巴西的公共卫生保健系统中，尤其是在经济上处于不利地位的地区，很少有致癌基因服务。

目的

描述由卫生部国家肿瘤护理支持计划（PRONON）资助的巴西东北部一家慈善转诊肿瘤医院为怀疑患有遗传性癌症综合征（HBOC和HNPCC）的患者提供的致癌基因服务。

方法

该服务是通过PDCA方法（计划，执行，检查和执行）实施的。

结果

在手术的第一年（从2018年8月开始），检查了675位个体，其中272位患者和98位家庭成员接受了基因检测。这包括收集338个DNA样品，其中300个已测序。该分析确定了HBOC的48个突变（17.1％）和HNPCC的19个突变（6.8％）。

结论

一年内，致癌基因服务通过生成可用于定制癌症预防和管理的先进分子数据，使300多个家庭受益。