title: Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.
abstract: As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.
authors.affiliation: Department of Medicine, Federal University of São Carlos, Rod. Washington Luís (SP-310), Km 235, Campus da UFSCar, 13565-905, São Paulo, Brazil, dgmelo@ufscar.br.
authors.forename: Débora Gusmão
authors.initials: DG
authors.lastname: Melo
authors.forename: Pamela Karen
authors.initials: PK
authors.lastname: de Paula
authors.forename: Stephania
authors.initials: S
authors.lastname: de Araujo Rodrigues
authors.forename: Lucimar Retto
authors.initials: LR
authors.lastname: da Silva de Avó
authors.forename: Carla Maria Ramos
authors.initials: CM
authors.lastname: Germano
authors.forename: Marcelo Marcos Piva
authors.initials: MM
authors.lastname: Demarzo