Genetic tests and Hereditary disease

The human genome was decoded in 2000. And in 2007, the first genetic tests appeared. Today it is a modern and expensive study that can show what diseases are ” genetically written “. That’s why after such a study Angelina Jolie’s breasts were amputated. But how reliable are they in reality and need?

Who is recommended to take the test?
First of all, people who have had hereditary diseases in their families. This will help to determine if you will develop such a disease, and to take measures in time, and secondly, it will help in family planning.

When planning a family, it is recommended that a genetic test be done regardless of whether the family has had hereditary diseases. The fact is that the family may transmit severe diseases from generation to generation (when the person is not ill but is a bearer of a defective gene), and if both future parents are carriers of the same gene, the risk of having a child with a severe disease will increase significantly.

Genetic tests are also prescribed if there is a suspicion of hereditary disease for accurate diagnosis and effective treatment.

It is also recommended that the test be done on newborns (to determine the risk of frequent hereditary diseases).

The possibilities of modern biotechnologies have also made genetic tests useful and informative for healthy people: such research reveals not only the risks of hereditary and multi-factorial diseases, but also how the body reacts to food and certain types of physical activity.

So far, genetic testing has been an optional study that has been controversial in the medical community. Some believe that such tests should become mandatory, others (and most of them) are convinced that when and where the predisposition “shoots”, today no one can say for sure. It is known, for example, that only 5% of oncological diseases are genetically related, and the remaining 95% are the result of spontaneous (and therefore unpredictable) mutations.

Screening test estimates 550 thousand DNA changes, which makes it possible to determine the predisposition of a person to 17 common diseases (among which – the most common: ischemic disease, diabetes, obesity, etc.) and the status of carriers of 282 hereditary diseases.

What is the accuracy of genetic prediction?
– Genetics is a field of medicine that deals with the relative or absolute risk of a number of diseases. If we talk about hereditary (monogenic) diseases, then the revealed mutations mean that either a person is a healthy carrier of such a disease, or he is sick with it.

If we are talking about multi-factor diseases (they include pathology, the emergence and development of which is due not only to genetics, but also lifestyle, age, nutrition), the detection of mutations indicates the degree of risk of disease. For example, the risk of prostate cancer in the presence of any mutation increases by 20 times compared to people who do not have such a mutation.

It happens that genetics can influence (on the development of the disease) in the range of 1-2% (for example, in the case of cholecystitis). But in some cases the contribution of genetics can reach 70%.

To pass the test, you have to:
Fill a tube with saliva (before that 30 minutes can not eat, drink, brush and kiss) and take it to the laboratory (or wait for the courier – in some centers, this service is included in the price).

The price of the study : (so far this study is not included in either mandatory or voluntary health insurance). The conclusion is usually ready in 14-30 days.

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