Suffering from one of the 9,603 diseases considered rare can be challenging for 13.2 million people diagnosed with diseases that, being uncommon, often end up on a pilgrimage by specialists, diagnostic centers or, even, the lack of medical treatment. An initiative of the Institutional Development Support Program of the Unified Health System (PROADI-SUS) should alleviate the problem: the Rare Genomas project.
As most of the rare diseases are of genetic origin, the initiative of the Ministry of Health and the hospitals of the Heart, Oswaldo Cruz, Albert Einstein and Sírio Libanês, in São Paulo (SP), and Moinhos de Vento, in Porto Alegre (RS) will use the genome sequencing of patients with these diseases to improve the diagnosis and treatment in the specialized units of SUS.
Sequencing the genome of patients with rare diseases will improve care in SUS units.Source: Agência Brasil / Camila Boehm
“Genetic sequencing allows advances in complex diagnosis, treatment and even prevention of several pathologies in SUS. With this project, we hope to reduce the time for diagnosis of rare diseases, implementing treatments or preventive measures early ”, explains the doctor and immunologist João Bosco Oliveira Filho, project leader and technical director of the Genomika genetic diagnosis center, at Hospital Albert Einstein.
Years without diagnosis
Since last month, the DNA of 750 volunteers has been sequenced in 17 reference centers for rare diseases in Brazil. In a second stage, the number of participants will be increased, with the addition of more than 2,750 patients over the next three years, at a cost of R $ 55 million.
“The carrier of a rare disease can take years to complete the diagnosis. There are many consultations that take place with different specialists, in addition to different exams until the end of the investigation. With the genome sequencing, this journey will be much more agile and assertive ”, adds Dr. João.
The genetic sequencing of patients with rare diseases is only the first: the Ministry of Health is in charge of the National Program for Genomics and Precision Health (Genomas Brasil) also wants to set up databases with the genes of those suffering from cancer and diseases heart and even infectious diseases, such as covid-19.
If there is not a robust genetic bank in the country that helps SUS, the country is still poorly represented in genetic banks abroad: less than 0.5% of the researches contemplate the Brazilian population.
The program, which aims to map the genome of one hundred thousand Brazilians over the next four years, will work in three stages. In one of them (the third) the National Bank for Economic and Social Development (BNDES) will make a public call of R $ 50 million to choose the company that will carry out the genetic sequencing of the Brazilian population.
Volunteers from Genomas Brasil will be recruited at SUS health units.Source: Agência Brasil / Marcello Casal Jr
Within SUS, the first phase of Genomas Brasil will receive a financing of R $ 71 million, made available by the National Council for Scientific and Technological Development (CNPq), for actions to promote research and the training of the researchers involved.
The second stage foresees the implementation of a pilot research project. Thereafter, it will be assessed whether it is possible to implement, within SUS, precision genomics and health services. This phase includes the qualification of health professionals to recruit volunteers for the sequencing of the genome, within the public services that take care of cases of rare, cardiovascular, oncological and infectious diseases.