Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009, Brazil’s Craniofacial Project, a multicenter and voluntary research initiative, collects socioeconomic, medical, and genetic information on individuals with craniofacial anomalies through the Brazilian Database on Craniofacial Anomalies (BDCA). This article discusses challenges to the provision of genetic assessment and counselling for individuals with syndromic oral clefts (SOC) through public health services in LMIC, such as Brazil. Subjects were selected using methods of the BDCA as described elsewhere. Among 800 records, 66 assigned as SOC with no etiologic diagnosis were preselected for genomic imbalance screening. Only 28 have timely completed basic protocol using public health services, and 22 were able to perform chromosomal microarray analysis. Pathogenic genomic imbalances were identified in 4 (18.18%) and a copy number variation of uncertain clinical significance was detected in one. Results exemplify barriers faced by the majority of the population of Brazil to reach whole genetic assessment either through public genetic services or in research settings. In this unfavorable scenario, BDCA has allowed the recognition of individuals with similar needs, optimizing the scarce genetic laboratory facilities in Brazil. Ultimately, BDCA has facilitated the translation of research into care. This experience may be successfully extended to other congenital anomalies and to LMIC with similar characteristics. A set of suggestions focusing on oral clefts is provided.

中文翻译：

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综合征性口腔裂隙：巴西遗传评估的挑战和改善健康政策的建议

解决低收入和中等收入国家 (LMIC) 先天性异常患者未满足的健康需求是一项重大挑战。注册和数据库是能够将研究数据与健康计划联系起来的典型工具。自 2009 年以来，巴西的颅面项目是一项多中心自愿研究计划，通过巴西颅面异常数据库 (BDCA) 收集有关颅面异常个体的社会经济、医学和遗传信息。本文讨论了通过中低收入国家（例如巴西）的公共卫生服务为患有综合征性口腔裂隙 (SOC) 的个人提供遗传评估和咨询所面临的挑战。使用如别处所述的BDCA方法选择受试者。在 800 条记录中，66 个没有病因诊断的 SOC 被预选为基因组失衡筛查。只有 28 人及时完成了使用公共卫生服务的基本协议，22 人能够进行染色体微阵列分析。在 4 个 (18.18%) 中确定了致病基因组失衡，在一个中检测到临床意义不确定的拷贝数变异。结果表明，巴西大多数人口在通过公共遗传服务或研究环境进行全面遗传评估方面面临着障碍。在这种不利的情况下，BDCA 允许识别具有类似需求的个人，优化巴西稀缺的基因实验室设施。最终，BDCA 促进了研究向护理的转化。这种经验可以成功地扩展到其他先天性异常和具有相似特征的中低收入国家。提供了一组针对口腔裂隙的建议。