Medical care in clinical genetics: an experience of decentralization in southern Brazil

Abstract

Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. Results: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. Conclusion: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey

“…Most of the responders emphasized the problem of decentralizing some steps of the diagnostic workflow, an inconvenience that, conversely, did not occur in centers using both WGS and WES and was instead regarded as useful. In line with this finding, Meneghini et al demonstrated the feasibility of outsourcing some services in genetics (e.g., genetic consultations) [26]. Notably, the decision to decentralize WGS services for suspected genetic disorders may depend on several factors, including costs, quality, accessibility, and single center expertise.…”