Abstract

Background: The current challenges of Clinical Genetics include the integration into medical practice of the fundamental tools that constitute the diagnostic process, with the basic knowledge of the specialty. However, in training professionals, there is a tendency to prioritize the application of technology. Aim: To increase the knowledge that supports the application of the clinical method in residents of Clinical Genetics.Methods: A quasi-experimental study of longitudinal strategy, educational intervention type (before and after design) was carried out with 25 resident physicians of Clinical Genetics, who gave their consent to participate. Two equivalent instruments were applied, validated by expert criteria, which consisted of five forced choice questions, true and false type, where knowledge necessary for the diagnosis related to Medelian inheritance, congenital defects, molecular genetics, dysmorphic signs and diagnostic tools were explored. Mac Nemar's Chi-square was applied for dichotomous nominal qualitative variables in related or paired samples with a significance level of 0.05, in order to demonstrate the impact of the intervention on each of the evaluated topics. The educational intervention consisted of an interactive talk. Results: It was found that with the educational intervention the knowledge related to dysmorphic signs and diagnostic tools increased statistically significantly. Conclusion: The educational intervention raised the level of knowledge on the subject of dysmorphic signs, as well as on diagnostic tools.

Abstract

Background: The national program for diagnosis, management and prevention of genetic diseases is being conducted in our country with the main goal of a community-based scope, being applied by general comprehensive physicians. Mistakes in interpreting basic concepts in Genetics usually appear among family doctors and may disturb the proper development of the program.Aim: To identify training needs among professionals working in primary health care.Material and Methods: A descriptive and transversal research was conducted. An evaluation instrument validated by experts, was applied to18 doctors working in the primary health care areas of the Faculty of Medical Sciences Miguel Enriquez, who voluntarily accepted to participate in the research.Results: In most cases amniocentesis concept was no correct. This mistake was also observed in the literature. Doctors graduated after 2009, who were taught Medical Genetics as a curricular subject, had the best results.Conclusions: The design of postgraduate courses in Genetics, for doctors working in primary healthcare, must also include practical features of the program, and emphasize on some concepts necessary for the development of the Genetics program.