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

摘要: As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected incorporate and genomic perspectives into education practice. Genetic competencies common all been identified by US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined knowledge, skills, attitudes required achieve these competencies. The aim of this study is analyze primary Brazil. It a descriptive survey study, whereby doctors, nurses, dentists were invited participate answering questionnaire including 11 issues based on established NCHPEG. Data presented as percentages. Differences between groups participants assessed Fisher exact test, with level significance set at p < 0.05. Results showed that concerning about 80 % recognized basic genetics terminology, but practitioners had difficulty identifying patterns inheritance. Regarding clinical able recognize facial dysmorphias identify situations where referral patients specialists was necessary. Nevertheless, there challenges process valuing gathering information family history. attitudes, 68.9 % thought comprehensiveness faced counselling parents. results may contribute developing an ongoing program professionals, leading strategy overcome Brazilian Unified System.