The importance of genetic analysis for the detection of rare diseases

The ace rare diseasesalso called EPOF oh ETH, these are generally chronic, complex, progressive, disabling or even fatal conditions. In this sense, it is estimated that eight out of 10, that is to say 80% are of genetic origin. Of this total, 70% manifest at birth or during childhood. It is even estimated that three out of 10 children will die before reaching the age of 5. In view of these figures, the importance of carrying out genetic analyzes to identify some of these pathologies is essential.

“80% of infrequent diseases have an identified genetic origin, with the involvement of one or more genes”, they underlined from the Argentine Ministry of Health, while warning that “genetic studies are multiple and the choice of a study must be carried by a medical geneticist”, who, according to “the family and personal history and the physical examination, will choose the appropriate study for each patient and/or family within the framework of a consultation” .

“The goal of genetic testing is to look at DNA, the chemical database that contains instructions for how the body works, to identify changes (mutations) in genes that can cause diseases and conditions,” as explained by the mayo clinicwhile emphasizing that these procedures can “provide important information for the diagnosis, treatment and prevention of diseases”.

Although this can be a very important first step, the truth is that the presence of a specific gene does not immediately translate to the development of the disease, in the same way that a negative result “does not guarantee that you will not ‘Won’t have some mess,’ the experts added, noting that there is a wide range of purposes when performing these procedures.

Diagnostic tests seek to confirm the presence of a disease after the appearance of symptoms linked to a genetic pathology and, in this case, experts seek to determine the presence of “mutated genes”. Some of the pathologies for which these studies are used are: cystic fibrosis or Huntington’s disease. Pre-symptomatic and predictive tests are performed in response to a family history of disease and assess the chances of developing it.

Additionally, carrier testing is used when there is a family history of a genetic condition (such as sickle cell disease or cystic fibrosis) or if you belong to a high-risk ethnic group. Prenatal tests are done during pregnancy and seek to identify abnormalities in the baby’s genes. An examination is performed on the newborn, a screening as it is called in Argentina, to identify genetic and metabolic abnormalities that cause specific diseases. Finally, there are preimplantation tests, which are performed when trying to conceive through in vitro fertilization and are performed on the embryos.

At present, the GENRES Genetics Laboratory announced that starting February 15, they were incorporating three diseases to their genetic tests. It is melanoma, Chronic Lymphocytic Leukemia there basal cell carcinoma.

As detailed, the experts studied the genetic mutations linked to six new conditions and pathologies: familial hypercholesterolemia, abetalipoproteinemia, autosomal recessive retinitis pigmentosa, type I tyrosinemia, familial hyperinsulinism and Pendred syndrome. While they identified that the combination of specific genes can influence susceptibility to certain diseases.

“Basal cell carcinoma is the most common type of skin cancer. Despite its low lethality, it is a difficult to heal lesion that appears in the basal cells and is found in the outermost layer of the skin, especially in areas of the body most exposed to solar radiation, such as face, neck, skin, scalp and shoulders,” they pointed out from the genetics lab.

As for chronic lymphocytic leukemia, also known as CLL, they indicated that it is “a type of cancer caused by the uncontrolled growth of lymphocytes, cells produced in the bone marrow whose purpose is is to defend the body. The disease mainly affects older people, especially those over 70, and is rare in children and adolescents.

Finally, “melanoma is a type of cancer that starts in the cells that produce melanin, a substance that determines the color of the skin. It can appear in the form of pimples, spots or moles on the body, mainly on the chest, back, neck and face and, less frequently”, since “its incidence increases from 15 years “.

On the other hand, it should be noted that the Argentine Ministry of Health has highlighted the importance of carrying out genetic analysis in the relatives of these patients with EPOF. “As 80% of rare diseases are genetic, this change can be inherited from one of the parents (mother or father), from both parents, or it can present itself as a new event (so-called “de novo” ), that is, the first reached in the family”.

“The fact that the disease is rare does not mean that the family is not at risk of the event repeating itself“, they pointed out from the health portfolio and stressed that” it is necessary to identify the genetic cause, usually through specific studies indicated by a medical geneticist”. Thanks to this process, they indicated, it is possible to diagnose the disease and advise the person and his family. “Appropriate advice mitigates the negative feelings that characterize these situations and allows to consciously guide decisions, optimizing the resources available for each case, avoiding the costs of an erratic path based on misinformation, both from the affective point of view than sanitary. “, they concluded.

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