New tech cuts rare disease diagnosis time in Brazil’s public care
Brazil’s public health care network – the SUS – will use technology to speed up and improve the accuracy of rare disease diagnosis. A new complete DNA sequencing platform is expected to serve up to 20 thousand people every year across Brazil and reduce the waiting time for diagnosis from seven years to six months.
The announcement was made Thursday (Feb. 26) by the Ministry of Health at an event in Brasília. At least 13 million people are estimated to have rare diseases in the country.
“We have made entire exome sequencing available to the SUS, which is a test that would cost BRL 5 thousand,” Padilha noted.
Reducing diagnosis time is essential for treatment and for patients’ quality of life, as pointed out by Health Minister Alexandre Padilha. He also noted that next Saturday is Rare Disease Day, a global day for raising awareness about rare illnesses.
Expansion of services
The minister argued that Brazil should have autonomy in research, production, and treatment of rare diseases, including technology transfers from other leading centers in this area. “When we expand these services to states that did not have any services yet, we are ensuring closer access to the places where people live,” he said.
The ministry’s rare disease coordinator, Natan Monsores, said that any patient who is seen at a specialty clinic or identified through a newborn screening program can be referred to sequencing centers. “We invested BRL 26 million in the first year. We were able to offer this test, which can cost up to BRL 5,000 at market prices, for BRL 1,200.”
Monsores noted that the diagnostic resolution is quite accurate.
“It is a huge gain for the community of people with rare diseases. It provides geneticists, neurology, and pediatrics teams with an essential tool to confirm this diagnosis.”
It starts with a cotton swab
The material is collected with a cotton swab from the inside of the cheek, which harvests cells to be sent to the labs. The test can also be done with blood.
“It allows us to advance in the diagnosis of intellectual disabilities […] and also a huge diversity of genetic conditions that can affect these children,” Monsores says.
The coordinator said there are 11 Brazilian states with active services. Within 90 days of using the tool, it was possible to verify 412 tests already sequenced with 175 findings.
“Our goal is to expand this network to all states by April 2026,” he added.
Another announcement from the Ministry of Health was the treatment of children with spinal muscular atrophy through an innovative gene therapy. “It is a disease that, if not treated in a timely manner, is lethal. All children who have received this therapy have had the progression of this condition halted.”
Advances
The president of the Association of Family Members, Friends, and People with Serious, Rare Diseases, and Disabilities, Maria Cecília Oliveira, who was at the event, celebrated what she called “advances” in public policies related to patients with rare diseases.
“I hope [it] can significantly impact patients with rare diseases, which is our struggle,” said Maria Cecília.
Another representative of patients with rare diseases, Lauda Santos, who is president of the Maria Vitoria Association for Rare and Chronic Diseases (Amaviraras) and co-founder and vice president of the Brazilian Federation of Rare Disease Associations (Febrararas), highlighted the importance of advertising such services.
Lauda says she understands that one of the government’s biggest challenges is getting this information to patients. “The difficulties continue. We hope this will change because everything takes time to get on track,” she said.
She also argued that entities that defend patients should be strengthened and lamented the tax burden on medicines.
