Brasília – The Ministry of Health announces a comprehensive expansion of public policies for rare diseases, centering on the inclusion of Whole Exome Sequencing (WES) in the Unified Health System (SUS) to drastically reduce diagnostic delays and improve patient care. The sequencing test — a high-complexity genetic exam that can cost up to R$ 5,000 in the private sector — will be offered free of charge through SUS, with an estimated 20,000 diagnoses per year and a reduction in average diagnostic time from seven years to six months. This expansion is supported by an annual investment of about R$ 26 million and aims to serve families across Brazil.

Health Minister Alexandre Padilha underscores the initiative as part of a broader strategy to expand specialized care and integrate advanced diagnostics into the public network. Two public laboratories in Rio de Janeiro — the National Institute of Cardiology (INC) and Fiocruz — will lead the rollout, with plans to scale services nationwide. The government also commits R$ 44 million to enable 11 additional specialized services, potentially bringing the total to 51 reference centers in public and philanthropic hospitals, strengthening SUS’s capacity for rare disease treatment.

Beyond diagnostic innovation, the ministry is partnering with Fiocruz under the Advanced Therapies Platform within the Health Economic-Industrial Complex program, allocating R$ 122 million to build domestic capacity for gene therapy and viral vector production. Stakeholders say the comprehensive package positions Brazil to become a reference in rare disease diagnostics and care while addressing longstanding gaps in access to early detection, clinical research and long-term management of these conditions.

Source: Futuro da Saúde