Modern genetic research show that many answers (or at least hints)are already encoded in our DNA. Each cell in our body contains information not only about the color of the eyes and the number of hair follicles on the body, but also as to which kind of activity we are more inclined. How to read this information and what else the sequence of nucleotides could tell? An interview of head of scientific direction for work with laboratories Ekaterina Kuznetsova and a PR and brand manager Victoria Rozanova for Medical Genetics Center Genotek.
Today, genetic research penetrate into medicine and other areas. How to look for genetic diseases?
VR .: As part of pregnancy planning - this is one of the most popular destinations. In order to minimize the likelihood of a mutation on analysis of father and mother of the child is determined the probability of the birth of a carrier of a genetic disease or child, who will have the disease.
EK .: We analyze a huge number of genes responsible for a particular disease, about 5 000. Sometimes couples come to us, who know where they "crash" (ie, they already have a sick child), then our task is specific gene sequenced. Sometimes people do not know what to catch. So we offer a fully sequenced ekzom (genes, which are read with proteins responsible for the characteristics of the organism, it is considered that up to 85% of mutations associated with human diseases occur in ekzom)
How does this technically happen?
EK .: There are several options. In the case of medical genetics courier delivers the patient's saliva or blood in our laboratory. At the first stage the biomaterial is quality controlled. If the sample meets all the necessary requirements, the process of DNA extraction begins. Then, strictly according to the protocol preparation for DNA sequencing begins, special equipment is used, all processes are automated - it is necessary to eliminate the so-called human factor. The result is a sequencing data to be decrypted using bioinformatics and statistical methods. The last specialist in this circuit is a physician-geneticist who is the conclusion.
When it comes to personal genetics - for example, a DNA test to determine the carrier status of hereditary diseases (children planning), we use microarrays, manufactured specifically on our order. In this case, the sample preparation is the same as the previous method: we obtain the saliva (or blood), hold the sample quality control, select DNA and prepares it for further study on the sequencer. Microchips are plates with microscopic dots on the surface. Each dot contains DNA with a specific nucleotide sequence. Signal in locations when chip and the target DNA, is recorded and quantified by using flyuorescence. Then the obtained data are processed with statistical methods and bioinformatics.
If it is determined that the child is likely to be sick, what should parents do?
EK .: IVF (in vitro fertilization - Ed.) - It is a reliable way to avoid any risks and mutations. With the development of science and medicine today, the probability of the birth of the child with a genetic disease is not an unsolvable problem.
Previously closed ethnic groups, for example, in small Caucasian villages, the elders always existed. They lived for 80 years or more, to know all the members of the community and their relatives up to several generations. They saw to it that the family of closely related marriages avoided. It can be said now the role of the elders is on genetics.
In Ashkenazi Jews (this is the most striking example), there is a huge number of hereditary diseases, typical for this ethnic group. But with the development of genetics and with the participation of the authorities, the introduction of special programs, some managed to get rid of diseases. They simply disappeared from the population because they are not transferred.
And what about personalized genetics?
VR.: Personalized Genetics is a DNA study, which give a complete picture of the health of the person, his psychological and physiological characteristics, based on genetics. There are tests that detect the predisposition to various diseases such as cancer, heart disease, nervous system, and so on. With the help of DNA testing, we can create a personal nutrition plan and training system, taking into account genetic characteristics of the organism and lifestyle.
We also have a DNA-test for children, which helps to find out to what kinds of sports a child has a predisposition, as well as research "genealogy", which determines the origin and help to find relatives.
The development of personal genetics goes constantly. New research is regularly produced and data emerge that we are placing in our databases and import in the private offices of our clients - so they constantly get updates and follow the development of science on the example of their own results. Largely, this is statistical analysis.
I.e take, for example, 100 champions in swimming, sequence their genome or ekzom, find certain sequences and relationships. They are compared and similar sites are associated with a particular feature, in our case, with a high propensity for swimming.
But such tests reveal a predisposition. That is, if the child has no propensity to swim, but he will have a great desire to do it, this does not mean that he cannot practice it, you'll just have to make more efforts.
It is a pity that this is not a diagnosis!
VR .: Why sorry - on the contrary! We had the following case: we did the test "Talents and Sports" for the girl about ten years old, and her mother asked to pay attention to the sports part. The fact that the child was engaged in rhythmic gymnastics, but the results were not. Mom wanted to see if a daughter is just lazy and she should educate her more severely, or she really do not need to train the child? After the analysis it was found out that the girl's genetic predisposition to this kind of sport is very low, but the results of predisposition to handball and volleyball were much higher. The girl was sent to the volleyball section, and it really worked: and its results were better, and more fun!
If she was left in gym, she also could well succeed, but the child would require more time, effort and patience.
Such analysis helps to determine just what will go better. But there are also moments of educational, psychological characteristics, so the main thing - to find a balance.