Brasília – Patients living with rare diseases in Brazil endure protracted and uncertain diagnostic journeys — commonly referred to as a diagnostic odyssey — that can span several years before reaching an accurate diagnosis. This challenge reflects deep structural limitations in clinical knowledge, access to specialists and genetic testing across the country, leaving many families navigating long sequences of misdiagnoses, repeated consultations and fragmented care. Rare diseases are statistically defined as conditions affecting up to 65 people per 100,000 population, yet an estimated 13 million Brazilians live with these conditions, underscoring that although each disease is individually uncommon, collectively they constitute a significant public health concern.

Brazil’s Unified Health System (SUS) has made strides through the National Policy for Comprehensive Care for People with Rare Diseases, which has expanded reference centers and integrated advanced diagnostics such as whole exome sequencing. However, persistent barriers remain, including insufficient specialist personnel, geographical inequities in service availability and limited data infrastructure for tracking rare disease cases, impairing policy planning and continuity of care. Additionally, only a small fraction of rare diseases have approved drug therapies, and treatments that are available often entail prohibitively high costs, leaving many patients reliant on supportive care or judicial action to access essential medicines.

Experts and patient advocates emphasize that resolving the diagnostic odyssey requires not only broader deployment of genetic and genomic tools but also investment in clinician training, real-world data systems and coordinated research networks. Improving timely diagnosis is seen as foundational to enabling early interventions, access to specialized care and reducing the emotional and financial toll that prolonged uncertainty imposes on patients and families.

Source: Estadão