Medical teleconsultation in the care of children with suspected rare diseases: a pilot study in Brazil during the COVID-19 pandemic

Objective: To evaluate teleinterconsultation in medical genetics for cases of children with suspected rare diseases. Methods: Prospective study of qualitative and quantitative survey that evaluated the use and satisfaction with asynchronous teleinterconsultation for physicians from public hospitals in a city in the northern macro-region of the state of Minas Gerais. Results: A total of 21 teleinterconsultations were performed from September 29, 2020, to January 07, 2021. Eleven (52.4%) of them were able to establish the probable diagnosis in the first evaluation, and the others were within the protocols of rare disease investigation. Of the 12 requesting physicians, 11 (91.6%) were female, seven (58.2%) were paediatric residents, and five (41.7%) were paediatricians. Seven of the requesting physicians had never used telemedicine before. There was 100% satisfaction with the teleinterconsultation with the specialist geneticist. Conclusion: Teleinterconsultation in medical genetics for children with rare diseases met expectations, modified the conduct of non-specialist physicians in a city lacking a geneticist, and guided diagnosis and conduct in all cases