The development of genetics over time went beyond the boundaries of purely scientific teaching and moved into the field of practice. Many modern doctors use the data of genetic analyzes in order to make the correct diagnoses, anticipate possible diseases and eliminate the factors that contribute to their development. To do this, the patient only needs to pass a genetic analysis, which will show a complete picture of the predisposition to the disease.
A few words about DNA
Deoxyribonucleic acid (DNA) is a complex set of nucleotides that fold into chains - genes. It is this intracellular formation that carries the hereditary information received from parents and transmitted to children.
At the time of embryo formation, very rapid cell division occurs. At this stage, small malfunctions occur, called gene mutations. It is they who determine the individuality of a person. Mutations can be both positive and negative.
Scientists were partially able to decipher the human genetic code. They know which genes cause diseases, and which contribute to innate resistance to some diseases. Genetic analysis gives doctors a picture of exactly how best to treat the patient, given his predisposition.
Monogenic diseases and polymorphism
Doctors recommend a genetic test for every person. It is held once in a lifetime. Based on its results, a genetic passport is compiled. It indicates all possible diseases and a predisposition to them.
Congenital diseases include monogenic mutations. They arise due to a change in one nucleotide in the gene to another. Often, such replacements are completely harmless, but sometimes they can cause serious illnesses. These include, for example, phenylketanuria and muscular dystrophy.
Polymorphism is associated with the replacement of nucleotides in genes, but does not directly cause disease, but acts only as an indicator of predisposition to such diseases. Polymorphism is a fairly common occurrence. It appears in more than 1% of individuals in a population.
The presence of polymorphism shows that under certain conditions and the influence of harmful factors, the development of a disease is possible. But this is not a diagnosis, but only one of the options. If you lead a healthy lifestyle, avoiding harmful factors, it is likely that the disease will never appear.
Prediction of Congenital Diseases
The development of modern genetics allows not only to ascertain the presence of congenital diseases or predisposition to them, but also to predict the health of unborn children. To do this, parents must pass a genetic analysis at the stage of pregnancy planning. This is especially important if one of the parents already has complex illnesses.
This also applies to diseases that are transmitted genetically. Among them is hemophilia, from which almost all the monarchical dynasties of Old Europe suffered, where marriages were widespread to strengthen political ties.
Also, genetic analysis will show the future child's predisposition to cancer, diabetes, hypertension, coronary heart disease. This is especially important if one of the future parents in the family had such diagnoses. Genes for predisposition can be in a recessive (depressed) state, but it is likely that they will appear in the unborn child.
Pregnancy tests
If at the time of planning the child it is recommended to pass tests to parents, then during pregnancy a genetic study of the fetus is carried out. For this purpose, amniotic fluid, umbilical cord blood, or parts of the placenta are taken for analysis.
Such studies are necessary in order to determine the possibility of congenital diseases. These are completely unpredictable diseases that arise as a result of intrauterine mutations, which cannot be foreseen in advance. Among these diseases is Down Syndrome, when the fetus for some reason has an extra chromosome. The normal number for a person is 46 chromosomes, 23 pairs, one from the father and mother. With Down Syndrome, the 47th unpaired chromosome appears.
Genetic mutations are also possible after the transfer of complex infectious diseases during pregnancy: syphilis, rubella. Based on the results of such an analysis, a decision on abortion can be made, since the unborn child will be completely unviable.
Women at risk
Of course, an analysis for intrauterine diseases would be best done for every expectant mother, but there are a number of indications for this procedure. First of all, this is age. After 30 years, the risk of developing pathologies in the fetus is always high. It also rises if there have been cases of miscarriage. To already know about the danger in the early stages, it is worth passing tests that show that everything is in order.
Infectious diseases and injuries occur in pregnant women. They can also affect the course of fetal formation. The sooner they occur, the greater the risk of dangerous mutations.
There is always a danger of fetal malfunction if, at the time of conception or in the early stages after it, the mother fell under the influence of dangerous factors. They include alcohol, strong drugs, psychotropic substances, x-rays and other irradiations.
Well, of course, it is better to play it safe if the family already has one child with congenital pathologies.
Paternity test
There are situations in life where it is impossible to establish paternity of a child. Or for some reason there is doubt that the father and child, or mother and child are relatives. In this case, you can conduct a genetic blood test to determine kinship. The accuracy of such a study is more than 90%.
And the procedure itself is simple. It is enough to donate the blood of the parent and child. By several indicators, it is easy to determine whether these two people have common genes.
The definition of paternity is usually used in forensic medicine to prove or disprove the need for child support.
Predictive medicine
Every year, doctors strive not to treat diseases, but to prevent them before the onset of the first symptoms. As genetic analysis shows, this is not so difficult. Since by the genotype it is already possible to guess which diseases the person is most disposed to.
This direction is called predictive (predictive) medicine. Based on the genetic passport, the doctor determines the lifestyle of his patient, cautioning him against dangerous moments that can become a trigger for the development of a disease. This is much easier and cheaper than undergoing a long, and sometimes not very effective, therapy.
HIV / AIDS tests
Today, even HIV / AIDS tests are done through genetic research. The procedure is not complicated, but long in time for the study. But the results of such an analysis are more accurate and indicative.
Many modern diagnostic centers do genetic analysis, the price of which is available to every average patient. It all depends on the goals: the cost varies from 300 rubles to tens of thousands. Therefore, there is no reason to refuse to conduct such an informative study, especially if it can save the life of you and your children.