Public policies for the care of individuals with rare diseases

Abstract

This article proposes a critical and interdisciplinary analysis of public policies in Brazil aimed at people with these conditions, focusing on the structural, legal, and operational barriers faced in accessing diagnosis, treatment, and follow-up by the Unified Health System (SUS). Based on a review of regulations and doctrine, we explore the weaknesses in the effective implementation of the National Policy for Comprehensive Care for People with Rare Diseases, the role of judicialization of health in guaranteeing rights, and the limits of state action. This scientific work also discusses the impacts of the decisions handed down by the Federal Supreme Court, especially in the judgment of Themes 6 and 1234, which redefined the criteria and competencies in the provision of high-cost drugs not incorporated into the SUS. The results point to the urgent need for coordination between federal entities, strengthening of primary care, decentralization of the specialized care network, and development of concrete strategies to ensure equity, inclusion, and effectiveness of public policies aimed at this historically invisible population.