6th Symposium on Rare Diseases: Information for Managers (Brasília, 2025)
DOI:
https://doi.org/10.66305/jbas.v6i1.39Keywords:
FDA, CONITEC , SUS, aprovação acelerada, incorporação de tecnologias, avaliação de tecnologias na saúde.Abstract
Introduction: The 6th Symposium on Rare Diseases for Managers, held in Brasília on October 20–21, 2025, brought together leaders from the Brazilian Society of Medical Auditing (SBAM), ISPOR Brazil, CRM-SP, AMB, supplementary health operators (Unimeds, Cassi, Geap, Capesesp, Omint, Amil, Seguros Unimed, Prevent Sênior, among others), and the public sector (DENASUS and Hospital de Apoio de Brasília) to discuss the structural challenges posed by rare diseases. Objective: To synthesize the technical discussions and provide managers and auditors with practical guidelines integrating evidence-based medicine, economic sustainability, and therapeutic innovation. Development: The symposium analyzed the global epidemiological landscape (6,000 rare diseases, 400 million people, 90–95% without specific treatment); international Health Technology Assessment models (NICE, AMNOG, Australian LSDP); applications of artificial intelligence in diagnosis and therapeutic decision-making; the new CMED drug-pricing methodology and the impact of Brazil's Tax Reform; the invisible cost of the caregiver under a societal perspective; real-world evidence (TRIBUTE, ELIPSE HoFH, and L-MIND studies); precision medicine in oncology with PD-L1 biomarkers; and intelligent therapeutic sequencing in onco-hematology. Conclusions: Four guiding ideas frame the future of the sector: (1) predictive management is imperative in the face of reactive auditing; (2) the real cost of rare diseases is underestimated when caregivers, end-of-life care, and the diagnostic odyssey are ignored; (3) access and evidence must evolve jointly through conditional reimbursement and risk-sharing agreements; (4) equity requires the unequal allocation of resources to meet unequal needs.
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Copyright (c) 2026 Marcos Santos, Alexandre Pagnoncelli, André Luiz Gumiero, Goldete Priszkulnik, Joao Paulo Reis Neto, Juliana Busch, Rita Ferrúa, Sérgio Antônio Dias da Silveira Junior, Thaissa Daulis Perna, Wilson Follador
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