Doenças Raras e Saúde Pública: dados do serviço de Genética Médica em um Hospital Universitário Federal

Abstract

This descriptive study aimed to analyze outpatient genetics medical attendances conducted at the the Clinical Hospital of the Federal University of Uberlandia (HC-UFU) from 2003 to 2022, focusing on conditions of genetic origin classified as rare diseases. Patients with Down syndrome and those without a confirmed genetic diagnosis were excluded. The analysis involved data collected from institutional records and categorized into four lines of care: inborn errors of metabolism, congenital anomalies, genetic counseling, and neurogenetics. The results demonstrated progressive growth in the number of attendances over the period, despite punctual interruptions, such as those occurring between 2013 and 2015, and a decline in 2020 due to the COVID-19 pandemic. The peak in attendances occurred in 2017. The structuring of attendances into specific lines of care starting in 2011 reflected greater organization and alignment with the National Policy for Comprehensive Care for People with Rare Diseases. The discussion highlights the main challenges faced in the diagnosis and treatment of these conditions, such as resource scarcity, regional inequalities, and difficulties in incorporating high-cost therapies into the SUS, as well as the increase in health judicialization. The study underscores the importance of HC-UFU as an emerging reference center for rare disease care and the need for more equitable and sustainable public policies. In conclusion, the systematization and continuous analysis of data are essential for planning and improving services, while also providing subsidies for future research and the formulation of strategies to expand access to early diagnosis and appropriate treatments. This work fills a gap in the national literature by presenting longitudinal quantitative data on genetics medical attendances in a federal public hospital located in the interior of the country.