Brazil’s SUS Rolls Out Whole‑Exome Sequencing to Speed Rare‑Disease Diagnosis

Overview

• Health officials say the new exam will handle about 20,000 cases per year and cut typical waits for confirmation from up to seven years to roughly six months.
• In the first 90 days of the pilot, 412 tests were sequenced and 175 reports issued, with year‑one funding of R$26 million and an SUS price near R$1.2 thousand versus private costs up to R$5 thousand.
• The Instituto Nacional de Cardiologia has operated since October 2025 and Fiocruz is slated to complete its structure by the end of May 2026, with both Rio‑based labs performing the sequencing.
• Collection sites are opening in multiple states, including Bahia and Ceará, and the project is already receiving samples from 13 services in 10 states plus the Federal District using cheek swabs or blood draws.
• The Ministry will invest R$44 million to habilitate 11 additional rare‑disease services, expanding specialized units from 23 in 2022 to 51, a push framed against studies showing years‑long diagnostic delays affecting millions of Brazilians.