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What is it about ?
The hereditary characteristics that we have inherited from our parents determine the structure of our body, its appearance and its functioning: the reaction of our immune system to the right stimuli, the presence of the appropriate digestive proteins in our gut, the correct transmission of nerve impulses, proper division of cells, etc.
The genetic material is stored in the nucleus of our cells, in the form of chromosomes. We have 23 pairs of chromosomes: 1 pair determines our sex and the other 22 pairs concern all other functions. There are about 25,000 genes on these chromosomes. A gene is a piece of genetic material that contains the code for a certain property, such as eye color or muscle structure. In turn, genes are made up of DNA. DNA is a kind of model, a canvas from which proteins are made. An abnormality in DNA can cause certain proteins to form incorrectly and our bodies do not perform certain functions well.
Genetic counseling aims to provide recent and correct information about hereditary abnormalities and their possible consequences. In function, people will then be able to make informed decisions about their family plans.
Not all genetic abnormalities are associated with a disease, and if they are, they are often rare diseases. Here are a few examples: cystic fibrosis, hemophilia and some forms of anemia. Genetic abnormalities also play a role in some cancers, for example in some forms of breast cancer and colon. These diseases can be transmitted to offspring. Some of these disorders lead to a normal life, others not at all. This is why it is important to know as much as possible, before, than in the future.
DNA analysis can detect genetic abnormalities in DNA. Certain abnormalities increase the chances of being confronted with certain conditions. You can carry other abnormalities without getting sick yourself. If your partner is also a carrier of the same abnormality, your children can get sick.
The doctor will offer you genetic counseling if there are any hereditary conditions in the family and you want to know if you yourself have a hereditary predisposition. It is thus possible to determine whether you are the carrier of an inherited defect, while you are not sick yourself. Then we can estimate the probability that your children will have a disease or not. If in doubt about the nature of the condition, a DNA analysis will help to establish an accurate diagnosis. It is also possible to check even before birth whether the fetus is a carrier of genetic disorders.
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