Avaliação da teleinterconsulta médica no cuidado de crianças com suspeita de doenças raras em município polo da macrorregião norte de Minas Gerais

Abstract

There is a high demand for geneticists to evaluate newborns with clinical suspicion of congenital anomalies in Brazil. However, there are few experts available. Telegenetics, eliminating distance and geographic barriers, is a possible tool to face this problem. This project aims to evaluate the use of telemedicine to obtain a second opinion from a geneticist in cases of children with suspected rare diseases under five years of age. Teleinterconsultation is defined as a remote single-professional consultation and was carried out in this project between the non-specialist physician at one end and the geneticist as the teleconsultant. Requesting physicians worked in public hospitals with an obstetrics department in the main city of the northern macro-region of Minas Gerais. The geneticist made clinical evaluations and provided guidance for physicians that were involved in caring for such patients through digital platform. The diagnosis was suggested when possible and guidance was given on management. To assess the degree of satisfaction, requesting physicians were asked to fill out a standardized questionnaire. In the period from 09/29/2020 to 01/07/2021, there were 21 requests by twelve professionals from two hospitals. Most applicants were female physicians (91.6%), pediatrics medical residents (58.2%), had never used telemedicine (58.3%) and were satisfied with the service provided (100%). In ten patients (47.6%), it was possible to establish a probable diagnosis during the first assessment. In 11, a diagnosis was not established, and guidance was given for clinical management based on the expertise of the geneticist. Of all patients, 13 (62%) were referred to genetic services for follow-up, four (19.5%) are awaiting re-evaluation, two (9.5%) were discharged after the evaluation, and two (9.5%) died. Therefore, the proposed strategy was resolute in 57.1% of cases after the first assessment. The research was impacted by the COVID-19 pandemic, as there were hindrances in implementing the strategy within participating hospitals. Even with such adversities, preliminary results point to a high degree of satisfaction. The researchers believe that this approach can have a relevant social impact for the population of Minas Gerais.