With technological advances, scientific research and genetic tests, the possibility of increasingly early prevention of diseases seems to be a very near future in medicine.
Terezinha Sarquis Cintra calls attention to the practice of healthy habits.
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But medical geneticist Terezinha Sarquis Cintra, from Oncoclínicas Espírito Santo, argues that prevention must begin even before discovering the risk of disease.
“Although technology is advancing, with more and more genes being studied, prevention cannot depend only on examining the risk of the disease. I don’t need to wait for the probability of an illness to start prevention. It has to start from an early age, with good habits”, he warns.
The doctor points out that the test is not a sentence that says that the person or the family will have the indicated diseases. “The exam shows a probability, an increased risk. But we have to remember that there are environmental factors, in our habits, that can be the trigger for the development of diseases”.
Therefore, she advocates that everyone make lifestyle adjustments to prevent disease regardless of the exam.
“Everyone has a level of risk, we have to try to take care of ourselves. Do physical activity, have a healthy diet, good relationships. This is all within the reality of each one. The genetic test becomes a way of guiding the doctor in preventive therapies”, she points out.
The geneticist says she is not in favor of genetic tests for diseases in which there are no preventive measures. “It is necessary to evaluate the indication and the psychological profile very well, because it can bring an even bigger problem. When it’s a disease that can change its course with medication, therapies, it’s really worth it and I defend prevention. Otherwise, I am very afraid”.
SUS will expand genetic tests
The Unified Health System (SUS) is expanding the offer of genetic tests and services in the area free of charge for Brazilians.
According to the Ministry of Health, with Law No. 14,154, enacted last year, disease tracking was expanded in the National Neonatal Screening Program (PNTN), which is in the process of being improved.
“The Foot Test is part of the PNTN and tracks a series of diseases and congenital conditions that, identified early in life, can make a difference in infant mortality rates and in the healthy development of the child. The process for inserting diseases in Neonatal Screening is being done gradually, according to the steps provided for in the law”, he said in a note.
In the State, according to the State Department of Health (Sesa), the government “is in the process of implementing Congenital Toxoplasmosis, the first disease staggered in Law No. by the SUS”, he informed.
The Foot Test is performed on newborns after 48 hours of life, with a drop of blood drained from a small puncture in the baby’s heel, as explained by doctor Antonio Condino-Neto, winner of the Dasa Medical Innovation Award in the category Innovation in Genomics through the project “Screening of Immunity Diseases through the Guthrie Test”, which increased to more than 50 the number of diseases that can be diagnosed in the test applied in the SUS and which helped to build the law for the expansion of the test.
“I am very happy because this project followed the academic trajectory and we saw the result of it transforming into a direct benefit for society. The Guthrie Test exists to diagnose a set of genetic diseases. Many of them are asymptomatic, but they can leave sequelae and, eventually, lead to the child’s death in the first months of life. Therefore, it is very important that these diseases are diagnosed promptly”, warns the doctor.
In the State, the Extended Guthrie Test is only performed on children who show clinical signs or clinical history that justify the collection.
The Ministry of Health also informed, in a note, that the incorporation of the HLA-DQ2 and DQ8 genotyping test for diagnosing celiac disease in patients with risk factors is under analysis.
Pediatrician Antonio Condino-Neto, senior professor at the Institute of Biomedical Sciences at the University of São Paulo (ICB-USP), believes that doctors should ask for a genetic test when they are sure of the patient’s clinical condition. “The case has to be approached in a judicious way, have a history, so that it can be well done and well interpreted”.
In addition to the good prescription for the genetic test, another challenge, according to biologist Débora Denadai Dalvi, from the Genome Laboratory, is still the high costs of this type of test. “Although they have become significantly cheaper in recent times due to increased demand, this is still a challenge. In addition, as it is a new and constantly developing field, it is still not widespread among medical specialties”.
Family with the same genetic mutation
Administrative assistant Katiucia Cometti Pessotti, 48, and her mother, Maria Inez Cometti Pessotti, 71, both had breast cancer in the same year. The episode made Katiucuia’s sister and children undergo a genetic test.
“We found that we all have the same genetic mutation. With this discovery, my children can now undergo annual preventive exams. They may never develop the disease. But if they develop, let’s find out at the beginning and treat them correctly. So, the test allowed me to take preventive care of myself and my family”, said Katiucia.
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🇧🇷 Photo: Reproduction/Instagram
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