Doctors point out the challenges of implementing an extended foot test

This Monday (6) came into force in the Integrated Health System (SUS), an extended version of the foot test, which increases the number of diseases that can be detected in the first days of a child’s life. Currently, the extended version is only available on the country’s private healthcare network.

Today is National Foot Test Day, an event that aims to make people aware of the importance of study. Geneticist Roberto Giugliani, a professor in the Department of Genetics at the Federal University of Rio Grande do Sul, said it was a big step, as the test increases the number of diseases that can be detected from six to 60. already the most advanced countries.

said Giugliani Brazilian Agency heel prick tests can detect diseases that are being treated early, but cannot be started until a diagnosis has been made. Outbreaks appear to be exacerbated during pregnancy and may be delayed for weeks, and may be too late for treatment. Early detection provides better benefits for the patient, the teacher said.

He pointed out that the number of diseases that could benefit from the heel prick test is growing because more tests can be done with drops of blood received from newborns. And more and more diseases can be treated with the developing therapies. “It’s something very positive,” Giugliani stressed. “Necessarily, the test needs to gain a larger scope.”

The extension of the test will be carried out in stages and it is the responsibility of the Ministry of Health to set the deadlines for carrying out each phase of the process. In the first phase, congenital toxoplasmosis is expected to increase in the six diseases identified today. The second phase will include galactosemia, amino acidopathy, water cycle disorders, and fatty acid beta-oxidation disorders.

The third phase includes lysosomal storage diseases, mucopolysaccharidosis (MPS), and the fourth phase includes genetic problems in the immune system. The fifth and final phase will be spinal cord atrophy. This means that it will be a few more years before the exams get national coverage in the public system.


According to Giugliani, there are technical difficulties in implementing the Extended Foot Test Act (Law No. 14,154) published on May 27, 2021. He said there was no problem in collecting the blood sample, but he stated that. State laboratories and municipal authorities must be qualified in the training of equipment and staff for the diagnosis of diseases to be included in the study. “This is one of the challenges in establishing the spread of the test nationwide,” the doctor said, noting what will be done with positive tests, patients who will need treatment, and where very clear protocols are also needed. will be treatment.

Dr. Marcelo Ferraz de Oliveira Souto, professor at the Federal University of Minas Gerais, according to the article entitled. Newborn screening / Foot test in Brazil and around the worldsome states and municipalities took steps to expand the screening of newborns using the local public budget.

The Federal District was a pioneer in this field, numbering 4,190 on August 6, 2008. With the District Act, he added diseases such as galactosemia, congenital toxoplasmosis, glucose-6-phosphate dehydrogenase deficiency, and leukinosis to the study. Recently, severe combined immunodeficiency and lysosomal diseases have been introduced. Similar laws were passed in the capitals of São Paulo, Paraiba, Rio Grande do Sul and Minas Gerais, all punishable from 2019, Souto said.

Moreover, the coverage of conventional neonatal screening is still insufficient in many regions, either due to the lack of tools that make up the system, or due to socioeconomic and cultural factors. According to SUS data, states in the North, South, and Northeast have a lower percentage of newborns participating in the program, below 40% coverage.

Heads up

Giugliani pointed out that in addition to heeling children, parents should be aware of warning signs. Not all genetic diseases show symptoms before they cause serious and irreversible damage to a child’s health, but there are indicators that require more in-depth assessment.

The geneticist paid particular attention to the signs of mucopolysaccharidosis type 1 and 2, especially when they appear combined at the same time, such as breathing and hearing problems, the appearance of a hernia, for example. In this case, it is necessary to consult a doctor for further evaluation. When the signs appear combined, a disease should be suspected and the baby should be referred to a pediatrician for appropriate referral. “It’s always a benefit, then it’s about detection.”

Research shows that the outcome of MPS treatment is much better when it starts in the first months of life. “That’s the reason why the U.S. introduced the MPS heel prick test, because of the advantage of having an early diagnosis, because there is already a method that will allow treatment to start earlier, with greater benefit,” he said.

Expanding the scope of the heel prick test does not create new cases, it only presents an early diagnosis, which gives better results in treatment.


For Giugliani, treatment that is capable of acting on all parts of the body, including the nervous system, will be able to serve all patients and change the trajectory of many people with mucopolysaccharidosis. This treatment must overcome the barrier that separates the blood from the brain, something that current medications do not have.

The geneticist is conducting clinical trials on MPS 1 and 2 in Brazil with alternative enzyme therapy that is able to reach the brain despite being given in the blood. This therapy is already approved in Japan and is under consideration by the National Agency for Health Care (Anvisa).

Giugliani explained that a change was made to the enzyme, which allowed the blood to overcome the barriers that separate it from the brain. Thus, even in a vein, it reaches the brain. “It is the same type of infusion treatment in a vein, with the advantage of reaching the brain. To be successful, this type of treatment must be taken first. ”

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