INTRODUCTION The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals distributed in all Brazilian regions. OBJECTIVE The aim of the study was to map the availability and distribution of the BPCCPRD diagnostic procedures in the Brazilian Unified Health System through RARAS. METHOD Data were collected through a questionnaire on the Research Electronic Data Capture platform, with 22 questions regarding the availability of procedures. Thirty-seven coordinators from RARAS participating centers received the questionnaire link for participation by email from August/2020 to March/2021. All participating institutions ethically approved this project. RESULTS Of the 37 institutions, 23 (62.16%) offered cytogenetic tests, 20 (54.05%) offered molecular procedures, and 22 (59.46%) offered inborn errors of metabolism diagnostic tests. The Southern blot analysis, enzyme assays on cultured tissue and urinary organic acid tests had the highest outsourcing rate. On the other hand, the procedures most frequently performed on-site were bone marrow karyotype and long-term cultured karyotype. It was observed that 10 of the 37 centers (27%) did not provide access to investigated procedures (on-site or outsourced). The North and Midwest regions stood out in terms of the unavailability of such techniques in at least 40% of the evaluated institutions. DISCUSSION AND CONCLUSION This study reveals large discrepancies in the supply of diagnostic procedures in the Brazilian territory. Moreover, there is a broad collaboration between services through the outsourcing of multiple diagnostic techniques to address this issue. Finally, this work corroborates the importance of mapping services for the diagnosis and treatment of individuals with RDs to propose actions for the better supply and distribution of these procedures.

中文翻译：

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巴西公共卫生服务中基因检测的可用性：来自巴西罕见疾病网络的数据。

简介 巴西罕见病患者综合护理政策 (BPCCPRD) 于 2014 年发布，认可了多个参考中心，并纳入了许多用于诊断罕见病 (RD) 的基因检测。巴西罕见病网络 (RARAS) 由 40 多家机构组成，为巴西的罕见病提供诊断和治疗。该网络包括罕见疾病参考服务 (RDRS)、新生儿筛查参考服务 (NSRS) 以及分布在巴西所有地区的大学医院。目的 本研究的目的是通过 RARAS 绘制巴西统一卫生系统中 BPCCPRD 诊断程序的可用性和分布情况。方法 通过研究电子数据采集平台上的问卷调查收集数据，其中包含 22 个有关程序可用性的问题。2020 年 8 月至 2021 年 3 月，来自 RARAS 参与中心的 37 名协调员通过电子邮件收到了参与调查问卷链接。所有参与机构都从道德角度批准了该项目。结果 37家机构中，23家（62.16%）提供细胞遗传学检测，20家（54.05%）提供分子检测，22家（59.46%）提供先天性代谢缺陷诊断检测。Southern blot分析、培养组织酶分析和尿有机酸检测外包率最高。另一方面，最常在现场进行的程序是骨髓核型和长期培养核型。据观察，37 个中心中有 10 个（27%）没有提供调查程序（现场或外包）。北部和中西部地区在至少 40% 的评估机构中无法使用此类技术方面表现突出。讨论和结论 这项研究揭示了巴西境内诊断程序的供应存在巨大差异。此外，服务之间通过外包多种诊断技术进行广泛的合作来解决这个问题。最后，这项工作证实了绘图服务对于 RD 患者诊断和治疗的重要性，并提出了更好地供应和分发这些程序的行动建议。