identification Rare diseases In Brazil and the world still represents a challenge for doctors and a continuous anguish for thousands of families. Many of these cases are genetic, complex and unknown, which makes the correct diagnosis difficult and can take years of uncertainty.
However, innovative technology, which is inspired by the performance of the human brain, begins to change this scenario and promised to accelerate the diagnosis process: it is so Graphics databases.
A long journey until diagnosis
It is considered Rare diseases A group of 6000 to 8000 conditions affects up to 65 people out of every 100,000 people.
More than 13 million people live with one of these conditions in Brazil, according to the Ministry of Human Rights and Citizenship. In the world, it is estimated that at least 300 million have a kind of this disease.
Despite the large number, the path is usually to the correct diagnosis usually Slow, confusing and comprehensive.
It is currently through a set of clinical assessment, complementary tests (photos, biochemistry) and genetic tests.
“Many rare syndromes have various symptoms that interfere with the clinical image of common diseases, which makes clinical diagnosis more difficult,” explains Vanessa Montration, the world of heredity in the center of genetics in the Syrian hospitals and Albani.
In Brazil, the challenges become greater by the fundamental complications of the country. Antoine Dhahir, President of the Hunter Casa and the Brazilian Federation of Rare Diseases Associations (February), highlights the main difficulties facing families:
- Diagnosis delay (on average, it takes 5 to 7 years until it reaches a correct diagnosis);
- Wrong information and lack of adequate knowledge on this topic (including health professionals responsible for the case);
- High cost of genetic examinations, specialized consultations and support treatments;
- Inequality of access to health services for families that depend exclusively on Sus.
“Although there are reference services in rare diseases, they were created by GM/MS Decree No. 199/2014They focus on large urban centers and are not enough to meet the national demand. “The movement of the system, from the basic service to the specialized service, is also defective, which prevents timely access to the diagnosis,” says Dahr.
Graphic technology and German Children’s Hospital condition
It has been developed nearly 20 years ago by Neo4J startup, the graph database technology aims to determine and store the relationship between data – not just the same data.
“The intention is to provide a visual connection to these relationships, which act as links to which the brains are promoted. Thus, it is possible to discover hidden patterns and obtain very connected visions in the actual time,” says VP Latam Paulo Da Neo4J.
Unlike traditional banks, which rely on tables or fixed plans, we use spelling and communications seats to represent, connect and provide context for information more and more flexible. “It is even running 1000 times faster “The consumption of cloud resources is less,” said Varias.
In the context of rare diseases, technology becomes a solution that allows researchers and doctors to connect symptoms, genetic variables and scientific and historical publications in a dynamic and consultative network. This contributes to formulating More accurate diagnoses and less time.
“Taking into account more than 3 billion DNA in the human body, analyzing and drawing maps of relationships each with diagnoses, exams and medicines will be human impossible. Not to mention more than 6000 to 8,000 rare diseases that the World Health Organization (the World Health Organization) has browsed,” said Varias.
The appeal was used at Dr. Von Honor Hospital for Children in Germany. For this, the chart of clinical knowledge (CKG) was created, which combines the technology of graphic, artificial intelligence (AI) and machine learning (ML), which contains data from 2,500 children in the country (so far).
Each of them is represented by a node in the system, as it is connected to another nodes (such as symptoms, proteins and apparent patterns).
However, doctors at the hospital can sail a group of about 16 million from the United States and 220 million relationships.
According to Daniel Weiss, the head of the Children’s Hospital at the Children’s Hospital, Dr. von Honor, before the adoption of the technique of the graph, the diagnosis of rare diseases was a manual process: when there was no known genetic variable, doctors and scientists need to analyze dozens of possibilities separately – something that might take months or even years.
With technology (still in evidence of the concept), this process can be automated by connecting clinical and genetic data and scientific literature in a system that facilitates analysis by artificial intelligence.
“This automation deals with the work that has previously signed a group of experts (…) We have not yet celebrated the distinguished successes of individual children. However, we are convinced that it is the way to follow: automation of specialized work, merge more rich data layers (RNA, proteins) and allow external researchers to contribute.
And in Brazil, is it possible to apply?
Despite enthusiasm, there is no evidence that this technology crosses the ocean and landing in Brazil soon. From Daher’s point of view, it can make some obstacles difficult to adopt immediate dependence.
The limited infrastructure in public services, low unification of health systems, and low training to deal with artificial intelligence are some current barriers.
However, he believes it is possible to change this scenario. For this, it will be necessary to invest in innovation, train professionals and make research centers and hospitals closer to Sus.
Currently, modern genetic tests are already an important progress, highlighting Montaleone. Techniques DNA sequence It was increasingly effective and faster.
“The implementation of the sequence by NGS (the next generation of Seicngeing) enables us to sequence multiple DNA fragments at one time, and in conjunction with progress in biotechnology, it allows the analysis of large data sizes faster, more accurate and less expensive.”
With regard to treatment, genetic treatments are used for various genetic conditions or study, as well as innovative techniques such as CRISPR (overlaply overlap, regularly interfering).
“They bring the possibility of more progress in the field of genetic treatments, allowing hope for families and patients with rare genetic syndromes.”
The genetic test refers to the origins and the risk of the disease; Understand