Clinical profile and patients’ demand in a genetics outpatient clinic of Southern Rio de Janeiro state

Abstract

Objective: The aim of the present study was to analyze and understand the demands and profile of users of the outpatient clinic in questions so as to improve care. Method: A retrospective study was carried out that evaluated the medical records of 119 patients seen in 2018. Results: It was found that 90% of referrals for genetic evaluation were
made by physicians from different specialties, with a predominance of pediatricians (19.3%), with 51.3 % of patients coming from Volta Redonda and the remainder from 14 other cities in Rio de Janeiro and Minas Gerais. Most patients (93.3%) were index cases and the rest were patients seeking genetic counseling. In the index cases, there was no gender
difference and the predominant age group was between five and 9 years old. More than 50 genetic diseases were diagnosed, the most frequent being Down Syndrome, Turner Syndrome and Neurofibromatosis. Conclusion: Rare diseases have several causes, 80% of which are genetic. To treat patients with these conditions, specialized services are needed. Most of these are concentrated in the Southeast and South regions of Brazil, including the Clinical Genetics service from the UniFOA Faculty of Medicine, in Volta Redonda, state of Rio de Janeiro. The evaluated data help to understand the profile of patients and the demands of the health system of the region, making it possible to plan the training of professionals to identify patients with probable genetic diseases and organize the flow of referral to the service, incorporating a more effective logistics.