Brazil's Craniofacial Project: genetic evaluation and counseling in the Reference Network for Craniofacial Treatment.
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Monlleó
Isabella Lopes
IL
Department of Pediatrics, Fundação Universitária de Ciências da Saúde de Alagoas, Clinical Genetics Sector, Hospital Universitário, Universidade Federal de Alagoas, Alagoas, Brazil. vlopes@fcm.unicamp.br
Gil-da-Silva-Lopes
Vera Lúcia
VL
D001938:Brazil; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000601:surgery; D005190:Family; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006297:Health Services Accessibility / Q000706:statistics & numerical data*; D006801:Humans; D009313:National Health Programs / Q000706:statistics & numerical data