for 10 years, Misiones has had a unique Human Genetics Institute in Argentina

Through Provincial Law XVII No. 81 and 10 years ago, the Missionary Legislature agreed to create the Institute of Human Genetics (IGeHM) whose mission is to facilitate equal access to high-quality genetics and genomics services and contribute to improving the health of the missionary population.

This is how this public health establishment was founded, which is located within the Misiones Health Park. “Dr. Ramon Madariaga”. Through large investments made by the provincial government over the years, the Institute has been adding high-tech supplies and equipment that today offer comprehensive health care to patients and their families.

The peculiarities and implications of genetic tests and diagnosis require adequate genetic counseling and a medical evaluation carried out by medical specialists in genetics accompanied by an interdisciplinary team of non-medical geneticists. For this reason, the portfolio of services they offer includes, from consultation and genetic counseling, to preconception, prenatal and postnatal genetic studies.

In turn, DNA studies are carried out to establish a biological link (paternity tests) in civil and criminal cases.

Within the framework of inter-institutional work, within the Health Park, the approach to patients treated by the IGeHM is always interdisciplinary, relating to other specialties existing in the Maternal and Neonatal Hospitals, Pediatric “Dr. F Barreyro “, of adults Acute School Hospital “Dr. Ramon Madariaga and LACMI.

Part of the staff that makes up the Institute of Human Genetics in Misiones.

Interconsultations are also received (with referral from the treating physician) from hospitals and private centers throughout the province. In addition, and when necessary, referrals are made to national reference centers and coordination with Programs, Plans and National Centers such as:

-National Program for Rare Diseases and Congenital Anomalies;

-National Registry of Congenital Anomalies (RENAC);

-National Center for Medical Genetics;

-Genetics Service

-Garrahan Hospital-;

-Lymphoid Neoplasms Genetics Laboratory and Hematology Genetics Laboratory – IMEX- National Academy of Medicine-

-National Plan for Familial and Hereditary Tumors (PROCAFA);

-Argentine Family Cancer Network (RACAF).

Areas that make up the IGeHM

Clinical Genetics Office: Through consultations and interconsultations, it deals with the care of patients (pregnant women, newborns, children, adolescents and adults) and families with:

-Infrequent diseases of genetic origin

-Congenital Diseases

Institute of Human Genetics

-Current pregnancies with ultrasound markers suggestive of congenital anomaly and/or family history of genetic disease.

-Fertility Disorders

-Familial and Hereditary Cancer

Laboratory:

-Cytogenetics and Molecular Cytogenetics: Conventional cytogenetic studies and with FISH technique in peripheral blood, chorionic villi, amniotic fluid, spontaneous abortion material, bone marrow and lymph node.

Institute of Human Genetics

-Molecular Genetics and Genomics: Determinations in Molecular Genetics and constitutional, oncohematological and oncological Genomics.

-Forensic Genetics: Through an agreement with the Judiciary, it determines the genetic profile to establish a biological link in

-Civil cases prosecuted and criminal cases: framed or not, in Law XII No. 31 (Free execution of the DNA Test in actions related to filiation).

Bioinformatics: Area in which the data generated with next generation sequencing technologies are analyzed and interpreted. It complements clinical (office) and technical (laboratory) activities.

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Legislation to which the IGeHM responds:

-Law XVII No. 81 – Creation of the Human Genetics Institute, the Human DNA Bank, the Provincial Genetic Data Bank and the Single Registry of People with Congenital Diseases.

-Decree No. 1612 – Regulates Law XVII No. 81.

-Law XVII No. 95 – Adhesion to National Law No. 26689 “Comprehensive Health Care for people with Rare Diseases”.

The Institute of Human Genetics (IGeHM), which has been in operation since 2012, since the creation of Law XVII- No. 81, and encompasses two large groups of professionals: graduates in genetics and medical specialists in genetics, in addition to other specialties that make up the interdisciplinary team such as social workers and psychologists.

The provincial law contemplates not only the implementation of the IGeHM, but also the formation of a Provincial Human DNA Bank (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.

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.

To learn more about the health services offered by the IGeHM: You can go to the Hospital Escuela de Agudos Dr. R Madariaga in Posadas, located at Av. Marconi 3736, (3300). Write to E-mail: [email protected] or call +54 376 4 443700 ext 3210.

Institute of Human Genetics

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