Hospital Israelita Albert Einstein, in São Paulo, wants to increase the number of people served by the Rare Genomes program, which performs the genetic sequencing of rare diseases in Brazil.
This year, the goal of sequencing the DNA of 8,500 people was achieved. By 2026, the idea is to serve another 20 thousand.
According to João Bosco, the doctor who coordinates the initiative, the lack of public funds to expand the program and the shortage of qualified professionals delay the report and analysis of sequencing, in addition to creating a waiting list for new patients.
The project is financed by Proadi-SUS and is part of Genomas Brasil (National Genomics and Precision Health Program), created by the Ministry of Health in 2020 to establish the basis for the development of precision health and implementation of the modality in the public system.
The goal announced at the beginning of the program was 100,000 sequences. There are around 13 million people with rare diseases in the country.
Bosco explains that sequencing genomes is essential for treating and expanding studies on each disease. “There is no shortage of people waiting to be diagnosed. There is still a large waiting list of new patients to be sequenced,” he says.
Monique Cristina, 23, was diagnosed with epidermolysis bullosa, a rare disease that makes the skin sensitive, at three months of age. Due to the nurses’ lack of knowledge, she underwent incorrect procedures at birth, such as a heated incubator and intubation. Both cause more injuries to babies with the disease.
Without health insurance, she depends on the SUS (Unified Health System) for treatment. A genetic test would help resolve important doubts about her condition, but the service is not offered on the public network and, to date, she has not been able to do so.
“I talk about my diagnosis, but I’m not sure if it’s correct. I never had the opportunity to know the truth”, he says. The price in the private network reaches R$5,000.
For Adriana Carvalho, coordinator of Renomica (National Network of Cardiovascular Genomics) at INC (National Institute of Cardiology), the entry of these analyzes into the SUS will guarantee access both for users of the system and for people who use supplementary healthcare.
The strategy also reduces public spending on consultations and exams, as the person is treated effectively from the moment of diagnosis. Cost-effectiveness research like this is also being conducted at Einstein for rare diseases in children in the neonatal ICU (Intensive Care Unit).
In addition to the waiting list for sequencing, there is a delay in completing the report and diagnosis. This is due to the lack of specialists in the Genomas Brasil program, such as bioinformaticians, who analyze large volumes of genomic data, and medical geneticists.
The geneticist is responsible for genetic monitoring and can carry out the sequencing report and analysis. “There is a lack of people with expertise in genomic analysis and genetic counseling. This is the final part, after the genome is ready for interpretation”, adds Bosco.
According to the Medical Demography in Brazil mapping (2023), genetic medicine has 342 professionals — specialization with the lowest number in the country. It is less than one for every 100 thousand inhabitants, 55.5% of which are in the Southeast. In the North, the number drops to 1.7%.
Among the reasons for difficulty in hiring is remuneration. The CNPq junior postdoctoral scholarship is R$4,100 and the technological and industrial development scholarship (category A) is R$5,200. The private network offers double these values. These professionals are also better paid by international companies.
Carvalho states that the turnover of professionals delays the issuance of reports in Renomica. “It’s a very serious problem with Brazil’s research system today,” he says. Of the 570 samples sequenced at INC, 280 are still awaiting the report.
Rare Genomes also faces this problem: of the 8,500 genomes sequenced, only 3,500 had the data released.
Beneficência Portuguesa de São Paulo, responsible for Mapa Genomas Brasil, which is also part of Genomas Brasil, is training SUS professionals in precision health. There are 375 people, 300 in primary care and 75 in specialized care.
“The idea is to expand this process not only for data collection, guidance and genetic counseling, but also for bioinformaticians. It is quite rare in the country today for people who know how to work with this absurd amount of data”, says Gustavo Guimarães, project coordinator.
According to the coordinators interviewed, the logistics of storing data are still individual and temporary. There is no unified database that stores all the information from each hospital and center participating in the initiative.
Fiocruz Bahia was hired to design this project. For now, the Ministry of Health has instructed each research unit to store its own materials.
“It’s important, because while the platform doesn’t happen, the scientific community won’t be able to access my data, only those who participated in the project can,” says Bosco, from Einstein. He also explains that this delays studies on new medications and treatments.
When contacted, the Ministry of Health stated that the current management will prioritize strengthening the research and development sector of new technologies. To this end, the ministry says it will invest R$100 million in research on Precision Public Health, as part of the Genomas Brasil Program, without giving details about transfers.
How genetic sequencing works
The methods and deadlines chosen at each stage vary according to the projects.
It is created and sent, in writing, to a funding agency or government bodies (such as the Ministries of Health and Science, Technology and Innovation).
The proposal is analyzed and, if approved, the resource is released.
Doctors or researchers look for people who fit the research criteria.
A blood or saliva sample is collected and sent to researchers.
Analysis and sequencing
Scientists begin evaluating the sample and sequencing the DNA.
Report and return
When completed, the exam is interpreted by a biotechnology specialist, who analyzes the data and produces the report. Then the patient receives the result. Delivery can be online or physical, depending on the method of each survey.