Gil-da-Silva-Lopes Vera Lúcia, Fontes Marshall Italo Barros, Dos Santos Ana Paula, Appenzeller Simone, Fett-Conte Agnes Cristina, Francisquetti Marina Cristine Cano, Monlleó Isabella Lopes
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, Campinas, Brazil,
Maternal-Child and Adolescent Health Center, Center for Maternal and Child Health, Health Sciences Center, State University of Health Sciences of Alagoas, Maceió, Brazil.
Public Health Genomics. 2019;22(1-2):69-76. doi: 10.1159/000501973. Epub 2019 Aug 27.
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.
满足低收入和中等收入国家（LMIC）先天性异常患者未得到满足的健康需求是一项重大挑战。登记处和数据库是能够将研究数据与健康项目相联系的典范工具。自2009年以来，巴西颅面项目是一项多中心自愿研究倡议，通过巴西颅面异常数据库（BDCA）收集颅面异常个体的社会经济、医学和遗传信息。本文讨论了在巴西等低收入和中等收入国家通过公共卫生服务为综合征性腭裂（SOC）患者提供基因评估和咨询所面临的挑战。按照其他地方所述的BDCA方法选择研究对象。在800条记录中，预先选择了66条被归类为无病因诊断的SOC记录进行基因组失衡筛查。只有28条记录及时完成了使用公共卫生服务的基本方案，22条能够进行染色体微阵列分析。在4条记录（18.18%）中发现了致病性基因组失衡，在1条记录中检测到临床意义不确定的拷贝数变异。结果例证了巴西大多数人口在通过公共基因服务或研究机构进行全面基因评估时所面临的障碍。在这种不利的情况下，BDCA使得能够识别有类似需求的个体，优化了巴西稀缺的基因实验室设施。最终，BDCA促进了研究成果向医疗服务的转化。这一经验可能成功推广到其他先天性异常以及具有类似特征的低收入和中等收入国家。本文还提供了一组针对腭裂的建议。
