Monlleó Isabella Lopes, Gil-da-Silva-Lopes Vera Lúcia
Department of Pediatrics, Fundação Universitária de Ciências da Saúde de Alagoas, Clinical Genetics Sector, Hospital Universitário, Universidade Federal de Alagoas, Alagoas, Brazil.
Cleft Palate Craniofac J. 2006 Sep;43(5):577-9. doi: 10.1597/04-203.
This study is part of Brazil's Craniofacial Project, which is the first initiative for a national characterization of craniofacial healthcare in Brazil. Our main aim was to describe the status of clinical genetics in the Brazilian Reference Network for Craniofacial Treatment.
All services (n = 29) listed in the Brazilian Reference Network for Craniofacial Treatment until October 2003 were contacted and invited to complete a questionnaire. Information regarding the general characteristics of the services, availability of genetic services, and genetic service providers was collected.
The response rate was 86.2% (n = 25). Thirteen responding teams had clinical geneticists. Teams were predominantly located in the southeast region and affiliated with universities. Family interest in genetic counseling was reported by 95.7% (22/23) of the services. Although 80% of the responding services reported offering genetic counseling, only 45% (9/20) provided genetic counseling guided by clinical geneticists.
Availability and access to genetic evaluation and counseling are still rudimentary in Brazil. Many services report family interest in genetic counseling, but there are few teams with clinical geneticists. Inclusion of this specialist on craniofacial teams is crucial to patient care. Development of standard guidelines for genetic evaluation of selected craniofacial anomalies and for local genetic counseling (e.g., for nonsyndromic cleft lip or palate) could be an alternative for improving current deficiencies in the system. Strengthening the degree of coordination and communication among craniofacial teams represents another important goal.
本研究是巴西颅面项目的一部分，该项目是巴西首次对颅面医疗保健进行全国性特征描述的倡议。我们的主要目的是描述巴西颅面治疗参考网络中临床遗传学的现状。
联系并邀请了截至2003年10月在巴西颅面治疗参考网络中列出的所有服务机构（n = 29）填写问卷。收集了有关服务机构的一般特征、遗传服务的可获得性以及遗传服务提供者的信息。
回复率为86.2%（n = 25）。13个回复团队有临床遗传学家。这些团队主要位于东南部地区且隶属于大学。95.7%（22/23）的服务机构报告称有家庭对遗传咨询感兴趣。尽管80%的回复服务机构报告提供遗传咨询，但只有45%（9/20）的机构提供由临床遗传学家指导的遗传咨询。
在巴西，遗传评估和咨询的可获得性及获取途径仍很初级。许多服务机构报告有家庭对遗传咨询感兴趣，但拥有临床遗传学家的团队很少。将该专科医生纳入颅面治疗团队对患者护理至关重要。制定针对特定颅面畸形的遗传评估和本地遗传咨询（如非综合征性唇腭裂）的标准指南可能是改善当前系统缺陷的一种选择。加强颅面治疗团队之间的协调和沟通程度是另一个重要目标。
