The provincial law contemplates not only the start-up of the IGeHM, but also the creation of a Provincial Bank of Human DNA (Bpadnh) and a Genetic Data Bank (BPDG) and the Single Registry of People with Congenital Disease (RUPEC). In dialogue with Misiones Online, the director of the Institute la Lic. Monica Ludojoskihighlighted the importance of these areas that make it possible to advance in the study and diagnosis of genetic diseases and, above all, rare diseases.
The creation of these three areas consolidates the province as a true pioneer in comprehensive public health services and allows patients and their pathologies to be studied in a personalized way.
In this way, Misiones began to venture into genomics (type of DNA study) in a way that no NEA province does today.
You may be interested in reading: DNA studies, fertility disorders and CLD detection: for 10 years, Misiones has had a unique Human Genetics Institute in Argentina
They incorporated forensic genetics studies and biomedical analysis (also included in the Provincial Law), which allowed them to start analyzing samples in court cases such as paternity or filiation tests and DNA tests linked to criminalistics.
In this sense, he clarified “we only receive the samples and carry out the study in terms of science and the laboratory, then the results are sent directly to the judiciary.” This is the only time that institute staff do not refer directly to the patient.
In this sense, Ludojoski indicated that genomics grew by leaps and bounds worldwide and Misiones was not far behind. Given that today one of the great sources of information used by professionals is a global database.
“These genomic data are reported in global databases and are updated daily. That is why the importance of the biomedical analysis area”, he pointed out and explained that this database allows them to discover correlations in mutations found in a genome, in a couple of weeks or months and not just in a few days.
So, “what professionals do is analyze the latest information (available in the databases) to correlate the finding in the laboratory with clinical suspicions,” he explained, and in this way they can reach a diagnosis and be able to treat patients.
Who can attend the IGeHM
Through the joint work of professionals from various disciplines, they serve patients at all stages of life, from pregnant women, children, adolescents, to adults; with or without social work.
Ms. Ludojoski pointed out that the institute even receives couples who during family planning seek care from genetic specialists, either because they are aware that they may have hereditary diseases or simply seek to “assess the risk of having an offspring with pathologies.”
And he reiterated that they offer free services for those who do not have social works. Ludojoski also acknowledged that they are really very expensive studies, which is why they tend to have certain complications due to administrative issues in social works.
“If the social work does not authorize there are a series of steps linked to the intervention of the health superintendence,” he said. “But we always want to quickly resolve these issues so that patients can access studies,” she said.
This is how this health center provides clinical genetics services; laboratory (cytogenetics and molecular cytogenetics, molecular and genomic genetics, forensic genetics); bioinformatics; social work; mental health; ICT (information and communication technologies); teaching; research and extension.
The importance of the IGeHM to investigate rare diseases
Rare diseases is one of the great topics of study for professionals at the IGeHM. “80 percent of rare diseases are of genetic origin,” explained Ludojoski.
And he pointed out that rare diseases are multifactorial in origin, so it is really very complex to reach a diagnosis.
“About 50% of rare diseases that can go undiagnosed sometimes present for the first time in that patient, we talk about there being no family history and there is no suspicion that another family member had it, and there it is more complex because if there are no international reports of a specific diagnosis for this symptomatology, it is difficult to find the cause of the disease, “he said.
The importance of the area of social work and mental health
Ludojoski also mentioned that social workers and psychologists are a fundamental link that allows all these services to be provided free of charge and with quality.
“The areas of mental health and social work are two areas that were recently added and were also established by law, “but in routine one realizes how key it is for our patients to have these two areas,” he said.
“Our patients are characterized by having them or their relatives diseases that are chronic and often end in premature death in the case of children, so from the point of view of mental health, this accompaniment and support is more than important,” he added. to end.
– missiononline.net (@misiononline) July 26, 2022