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New SUS Technology Promises to Reduce Rare Disease Diagnosis from Seven Years to Just Six Months and Expand Access Across Brazil

Written by Jefferson Augusto
Published on 27/02/2026 at 14:26
Coleta de material genético com cotonete para exame no SUS
Coleta simples com cotonete inicia exame genético na rede pública
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Complete DNA Sequencing Enters The Public Network And Can Benefit Up To 20 Thousand Brazilians Per Year

The Unified Health System (SUS) begins a new phase in addressing rare diseases in Brazil. From now on, the public network offers complete DNA sequencing, a technology that promises to reduce the average diagnostic time from seven years to just six months. Furthermore, the Ministry of Health estimates that the platform could handle up to 20 thousand requests per year nationwide.

Currently, at least 13 million Brazilians live with rare diseases. Therefore, speeding up the diagnosis means not only anticipating treatment, but also improving the quality of life for millions of families. In this context, the announcement made this Thursday (26), in Brasília, represents a structural advance for public health.

The information was disclosed by “Agência Brasil,” which detailed the investments and goals of the new complete exome sequencing platform in SUS.

Examination That Costs Up To R$ 5 Thousand Now Offered For R$ 1.2 Thousand

During the event, Health Minister Alexandre Padilha confirmed that SUS will now offer complete exome sequencing, an examination that can cost up to R$ 5 thousand in the private network. However, with public investment, the system will provide the exam for approximately R$ 1.2 thousand.

According to the coordinator of rare diseases at the ministry, Natan Monsores, the government invested R$ 26 million in this first year to enable the technology. Thus, SUS expands access to a high-complexity examination at a significantly lower cost.

In addition to the cost reduction, the tool increases diagnostic accuracy. Consequently, geneticists, neurology, and pediatrics teams will have a more efficient instrument for finalizing complex diagnoses.

The material collection occurs simply. Firstly, the professional uses a swab on the inside of the cheek to collect cells. Alternatively, the exam can also be performed using a blood sample. Then, the laboratories conduct the complete sequencing.

According to the ministry, any patient being treated at a reference service or identified in neonatal screening can be referred to the sequencing hubs. Thus, the system broadens the reach of the technology.

Network Already Operates In 11 States And Should Reach The Entire Country By April 2026

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Currently, 11 states have already activated the services. Additionally, just 90 days after the initial implementation, teams conducted 412 tests and completed the sequencing of 175 reports.

The Ministry of Health intends to expand the network to all states by April 2026. Thus, the strategy aims to decentralize access and reduce regional inequalities.

Simultaneously, Padilha signed the authorization for new services focused on treating rare diseases. Furthermore, the minister highlighted that next Saturday marks World Rare Disease Day, emphasizing the importance of the measure.

Another relevant announcement involves gene therapy for children with spinal muscular atrophy (SMA). This is a condition that can be lethal if not treated in a timely manner. According to the minister, all children who received the therapy halted the progression of the disease.

Organizations Celebrate Advances But Demand Promotion And Strengthening

During the event, Maria Cecília Oliveira, president of the Association of Families, Friends and People with Severe, Rare Diseases, and Disabilities, celebrated the advances in public policies. However, she also emphasized the need to ensure real impact for patients.

In turn, Lauda Santos, president of Amaviraras and co-founder and vice-president of Febrararas, highlighted that the government needs to increase the promotion of the new technology. According to her, many patients are still unaware of the available services.

Moreover, Lauda stressed that strengthening representative entities remains essential. She also lamented the high tax burden on medications, which continues to hinder access to treatment.

Given this scenario, the investment of R$ 26 million, the capacity to serve up to 20 thousand people per year, and the goal of expansion by April 2026 indicate a structural change in the diagnostic policy for rare diseases in SUS.

Therefore, if the execution occurs as planned, Brazil could shorten a wait that previously lasted seven years to just six months — a breakthrough that could redefine the future of public health for millions of Brazilians.

Do you believe that this new SUS technology can change the lives of millions of Brazilians waiting for a diagnosis for years?

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Jefferson Augusto

Atuo no Click Petróleo e Gás trazendo análises e conteúdos relacionados a Geopolítica, Curiosidades, Industria, Tecnologia e Inteligência Artificial. Envie uma sugestão de pauta para: jasgolfxp@gmail.com

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