Genetic studies performed at the Endocrine Health Clinic. What is a genetic passport What does a genetic passport include

Perhaps, very soon, in addition to a passport and TIN, a Russian citizen will also issue a genetic passport. It will describe how you differ from other people and what diseases you should be afraid of. Why do we need another document, experts from the Institute of General Genetics of the Russian Academy of Sciences. N. I. Vavilova: Professor Nikolai Kazimirovich YANKOVSKY, Head of the Genome Analysis Laboratory, member of the Council of the World Human Genome Organization (HUGO) and senior researcher of the same laboratory, Ph.D. Svetlana Alexandrovna Borinskaya.

A GENETIC passport is usually done either for the purpose of DNA identification, or in order to determine what dangerous diseases lie in wait for you in life. It is like a barcode describing a person, or rather the presence of certain features in his DNA.

DNA identification is used in all developed countries. A genetic passport is very important for forensic science. In the United States, for example, they decided to reconsider cases related to rape. We compared the genetic passports of the convicts and the children who were born to the victim. And it turned out that 30% of those sitting under this article are not the fathers of these children.

The British passed a law according to which the data of people who have undergone DNA identification and nevertheless acquitted by the court remain in the database. There are situations when a person who is in the field of view of justice has been justifiably acquitted. But, alas, the statistics say that he is more likely to get caught again than anyone else.

Own and others

Fear of falsification is not worth it. It is difficult to imagine that the blood of an innocent person will be brought and left at the crime scene. In this type of genetic passport, only neutral signs are indicated that do not say anything about a person’s health or that he is better or worse than others. It looks like a base with fingerprints.

It is very important to observe the legal aspects of identification in order to exclude substitution: where did the genetic material come from, how was it registered. All this should be known to criminalists. For professionals, this requires advanced training, for new employees - certain skills acquired during the training process.

It should also be taken into account that a person who conducts DNA identification can leave his "traces". Even once put on and taken off, a laboratory glove can provide enough material for DNA identification. Therefore, the database also needs to have DNA samples of those people who are related to the procedure in order to know that they are "their own".

It is technically possible to create a database with a "barcode" identifying DNA in Russia right now. The issue, as always, is funding. As for the confidentiality of information, this is the business of the authorities, which should ensure it.

Find out and prevent

There is also a medical genetic passport. It is needed to find out what is the genetic risk of developing a particular disease.

Women over 35 years of age should definitely do such tests. For example, for a young woman, the risk of having a baby with Down's disease is 1 child in 600-700 cases. For a woman over 35, this is already 1 in 60 cases.

DNA analysis can confidently predict susceptibility to several hundred human hereditary diseases. If he has a certain version of the genetic text, this in many cases means that a person will be sick, for example, with diseases such as phenylketonuria, cystic fibrosis, and various blood diseases.

It is possible to calculate the risk of a disease not only at any age by a drop of blood, but also long before the birth of a child. It is possible to extract an embryo that has not yet been implanted in the uterine wall, or rather, a group of cells for the time being, in the first 3 weeks of pregnancy. Diagnostics is being carried out. Then, if no pathologies are detected, the cells come back.

Such an analysis is recommended for families where there has already been a sick child - in the next pregnancy, the probability of having a sick baby is 25%. The procedure is fundamentally different from an abortion, but if doctors find out that the child is ill, the parents will have a choice - to give birth to such a baby or not. Diagnostics will be especially useful in countries where it is forbidden to protect yourself. The analysis will not affect the health of the mother in any way, although there is a risk of incomplete pregnancy after diagnosis (up to 5%).

Forewarned means for sure

ALREADY NOW you can "predict" an increased risk of developing cardiovascular disease or certain types of cancer. A genetic passport will help to find out professions that are "harmful" for a given person. For example, the production of dyes, if we mean a predisposition to cancer.

Your personal genetic passport will indicate which diseases (for example, high blood pressure, diabetes, schizophrenia) you should be more afraid of than other people. If there is a risk of diabetes, you need to limit your intake of sugar and fat. If a person has weak blood vessels, they must be trained to reduce the risk of a heart attack or stroke. It is clear that smoking is harmful to everyone, but it is an order of magnitude more dangerous when there is a predisposition to cancer.

A form of Alzheimer's disease is known, which manifests itself at the age of 60, and a predisposition to it is diagnosed at any age. There is an opportunity to prepare yourself and relatives for the period of "care" of the individual.

Decide for yourself

TODAY, whether or not to have a genetic passport is a personal matter of a person, not a duty. Over time, the state should provide such an opportunity to everyone. The main thing to remember is that information about your risks will be entered in the genetic passport. This is not a prediction of the disease, it may never manifest itself. But for future spouses, for example, it is important to know that when they both have the same important gene "damaged", then a sick child will appear with a probability of 25%.

According to existing standards, the data of the general passport (or rather, their interpretation) should be known to the person himself and stored, like a medical record, in medical institutions. Only your doctor will have access to this data. By law, you are not obliged to provide anyone with information that will be entered in the general passport. Although this may become mandatory when choosing professions associated with a high responsibility for the lives of other people (pilots of airliners, operators of nuclear power plants, etc.).

Most people (about 70%) would like to get a genetic passport now, 20% do not want this, 14% found it difficult to answer. The majority would like to receive medical genetic information about themselves (60%) and their spouses (50%). 92% of respondents believe that parents should have such information about minor children; 87% - adult children about parents. 50% believe that a spouse should know about genetic health risks. 73% would trust the doctors of medical institutions in compliance with medical secrecy. More than 80% of respondents are against providing this information to the management of enterprises.

The governments of some Western countries are allocating considerable funds for the implementation of one of the most controversial projects of the 21st century - the creation of a genetic passport that includes a sample of human biological material and its characteristics. Genetic certification is supported financially in Ireland, Finland, Estonia, and some North American states. The progress of work is covered in the media, social, ethical and legal aspects of the project are discussed.

While there is debate about the need for a genetic passport on a global scale and the problems that arise in connection with this, in some countries citizens can obtain a genetic passport privately. For example, in Russia, a picture - a characteristic of predisposition to diseases, made at institutes engaged in genetic research, costs several hundred dollars.

GENETIC TESTING

Genetic testing is the search for mutations that provoke the development of many diseases. Some studies make it possible to detect changes in the gene itself, others in the protein encoded by the altered gene. A gene can undergo up to 300 mutations, some of which lead to the development of diseases, sometimes ending in death, others to less severe consequences, while others do not appear at all. In recent years, genetic testing (screening) for the presence of mutations responsible for the occurrence of hereditary diseases with a late onset, such as cancer, Alzheimer's disease, etc., has become widespread. preventive measures to avoid a hereditary disease and its transmission to offspring.

A number of fundamentally new survey methods have already been developed, based on the latest scientific achievements. Such methods are now firmly established in clinical practice. So, with the help of DNA diagnostics, it is possible to identify damage in a particular gene and determine whether this or that defect is the cause of the disease or can lead to it. DNA diagnostics is carried out in individuals with a hereditary pathology and in those who wish to confirm the presence of a gene mutation. Intrauterine testing is also possible. Best of all - in the early stages of pregnancy, in the first 10-12 weeks. In the presence of a severe mutation that will lead to the development of a currently incurable disease, the question of abortion for medical reasons is raised.

UNUSUAL PASSPORT

In other words, those who want to know their genetic characteristics can get a genetic passport, which contains information about the presence of mutations in the genes responsible for the development of hereditary diseases, as well as in the genes of predisposition to multifactorial diseases. In some countries, genetic testing is carried out for medical reasons or as part of a paid service.

The idea of ​​genetic certification arose after the implementation of two grandiose biological projects: cloning of Dolly the sheep and decoding (sequencing) of the human genome. And although sequencing did not bring complete clarity to the understanding of which gene is responsible for what, nevertheless, scientists were convinced that it is possible to obtain information about a person's predisposition to many diseases at the genetic level. The presence of a genetic passport will allow you to learn about your own body "all the ins and outs" and use this data for the treatment and prevention of diseases. According to many experts, this will positively affect the state of human health.

Initially, the genetic passport was intended not so much for solving actual medical problems, but for identifying a person. For example, in the United States since 1992, genetic testing of military personnel has been introduced - the collection of genetic information in the form of blood samples to simplify the procedure for identifying the remains in the event of death. Thus, the state guarantees that a person will be buried under his own name. Undoubtedly, the test results stored in a special database make it possible to identify a person much more accurately than a token worn on a hand. The so-called DNA registry, designed for 18 million genetic samples, annually costs the US treasury $20 million.

US law enforcement agencies enter into databases the results of DNA identification studies of convicted criminals, take samples of biological material from the scene of incidents and unidentified human remains. All information, thanks to the CODIS system (Combined DNA Index System - Combined DNA Data System), enters the Federal Data Bank. In the UK, not only criminals are subject to mandatory DNA testing, but also those who are suspected of committing a crime. On the one hand, this contributes to the disclosure of serious crimes, on the other hand, it causes dissatisfaction on the part of human rights organizations and bioethical committees.

IT IS IMPOSSIBLE TO DETERMINE ALL THE GENES OF REDISPOSITION FOR EVERY PERSON, BUT TODAY INDIVIDUAL ANALYSIS FOR SEVERAL DOZENS OF GENES IS TECHNICALLY AVAILABLE.

GENETIC APARTHEID?

Who can have access to the genetic information obtained through testing? Who owns the ownership of this information and the samples collected during the tests? Such data is of interest to insurance workers, employers, law enforcement and judicial authorities, adoption agencies, law enforcement agencies, not to mention the relatives and friends of those tested. The samples themselves are of considerable scientific, and sometimes commercial value, since they can be used as an object of research. In national laws, access to genetic testing data is usually regulated in the same way as any other medical information that is confidential. This means that the information contained in the genetic passport is a medical secret.

Special laws have been issued only in the United States, but they are of a limited nature. Meanwhile, uncontrolled access to "screening" materials means an infringement on the freedom of the individual, since it can lead to discrimination based on genetic characteristics. Numerous cases of genetic discrimination have already been noted in the United States, when healthy carriers of “bad” genes were denied employment, life and health insurance, adoption of children ...

Members of the British Human Genetics Commission argue that the unfair use of genetic information can be avoided if genetic testing of any human cells is declared illegal without his consent. After all, we leave information about ourselves at every step. A hair, a nail clipping, lipstick on the rim of a glass - all this is a material that can be used to obtain genetic information without notifying the "owner".

International and national scientific organizations are trying to develop some "rules of the game" in the field of genetic testing. Thus, the working group on mental disorders and genetics at the Nuffield Bioethics Council (UK) expresses concern about the possible use of genetic "sifting" to predict predisposition to such fairly common diseases of a multifactorial nature, such as schizophrenia or Alzheimer's disease. Scientists are concerned that a number of companies intend to enter the market with similar tests. According to British experts in the field of bioethics, testing will mislead consumers. Those who are found to have “suspicious” genes (or mutational changes in them) may think that they will definitely get sick, when in fact this is not the case. But a biased attitude towards them from others is ensured. The stigma of a potentially gopsycho can become a source of trouble in your personal life and professional activities. How many will agree to marry a man who in the future with a probability of 80-90% will get an incurable form of cancer or lose his mind? The question arises: is it necessary to report a threatening disease to the tested person, especially if it is not treatable, but develops in his declining years? After all, life under the sword of Damocles is not an easy test. However, sometimes it is better to know the bitter truth about your future than to live under the weight of assumptions...

HUMAN PRIORITY

A special document of the Council of Europe (Convention for the Protection of the Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine), adopted in 1997, contains provisions governing genetic testing. Thus, in accordance with Article 5 of the Convention, genetic tests can only be carried out with voluntary informed consent. However, article 12 prohibits non-health predictive tests, even with the consent of the subject. Predictive genetic testing is prohibited as part of pre-employment health screenings unless it is associated with a health risk. After all, genetic screening carried out when applying for a job can lead to unreasonable interference with privacy, since the risk that the test results can be used in the interests of the employer cannot be ruled out. It is important to make a clear distinction between health care purposes and third party interests that may be commercial in nature (eg contracting health insurance). Article 11 of the Convention prohibits any discrimination of a person on hereditary grounds.

In conclusion, it should be noted that experts in the field of bioethics are unanimous in one thing: the interests of man must prevail over the interests of science and society.

Since 1953, when the DNA molecule was first deciphered by James Watson and Francis Crick, the world's leading scientists began to work on the content of the DNA structure. And the more understandable the structure of DNA became, the more doubtful the classical theory of the origin of life on Earth began to seem. The structure of DNA, which is the basis of all life on the planet, turned out to be too thought out.

One gram of DNA stores up to 700 terabytes of data. For example, all the information that Google processes in a day could be written in five grams of DNA. This is the amount that 14,000 Blu-ray discs with a memory capacity of 50 gigabytes each occupy. and in DNA format, it's just a drop that fits on the tip of your little finger. For comparison, the same amount of memory stored on hard drives, which are the best storage media today, would require 233 3 terabyte hard drives, and their total weight would be 151 kg.

From the very moment of conception, a unique set of chromosomes is formed in the fetus - structures that carry the main set of genetic information. The embryo already contains its future "characteristics": the constitution, the color of hair and skin, the size of the legs and arms, the cut and shape of the eyes, the blood type, the predisposition to various diseases, and even to a certain extent life expectancy - all this is a manifestation of the genetic information stored in a single DNA molecule. Thus, DNA plays the role of the custodian of the genetic "records" in all cells of living organisms.

The number of chromosomes in different biological individuals is different: a person has 23 pairs of chromosomes, a gorilla has 24, a macaque has 23, a cow has 60, a butterfly has as many as 190 (!) And a cat has only 19 pairs of chromosomes. The 22 paired human chromosomes are the so-called autosomes. The 23rd pair of chromosomes contains a set of genes that determine sex and sex-related traits, called the sex pair of chromosomes (XX for women, XY for men). It is this pair that is responsible for the evolution of the gene pool.

According to scientists from Moscow State University, the structure of human speech and the structure of the DNA sequence, i.e. chromosomes have a similar linguistic and mathematical structure.

The benefits of using human DNA have long been understood by forensic scientists, who, with the help of DNA analyzes, can more effectively and quickly find criminals. Although here, incidents are possible.

In 2007, in the case of The Phantom of Heilbronn, police were looking for a woman suspected of committing a series of murders and robberies in Germany, France and Austria. The criminal's DNA sample appeared at the scene of 39 crimes, including six murders. Among other crimes, she was charged with the murder of a police officer in Heilbronn in 2007. It was at this moment that the mystical lady was given the nickname "Phantom of Heilbronn", referring to the fact that she is elusive, like a ghost. The detectives did not yet realize how true this nickname was. An analysis of mtDNA carried out in Austria showed that the DNA of the “criminal” is most likely the genotype inherent in the inhabitants of Eastern Europe or Russia.

There were no templates of crimes, no video, no eyewitnesses: the phantom seemed to pass through the walls. In 2009, the police found fingerprints at a new crime scene, the DNA of which completely matched the DNA of the criminal. True, they belonged to a man ... Only after this incident it turned out that there had never been any Phantom from Heilbronn - the DNA belonged to a packer of cotton buds that the police used throughout Europe to collect DNA. And she really was from Eastern Europe.

During the sterilization of the sticks, all known viruses and bacteria were destroyed, but the DNA remained on them. The consequences of this blunder were impressive: in addition to wasted several years, dozens of crimes remained unsolved, the perpetrators of which were virtually ignored by the investigators chasing the ghost.

The German police were unable to bring a case of jewelry theft to court because DNA analysis of one of the perpetrators matched a twin who had an ironclad alibi. It was not possible to prove guilt in that case, tk. The DNA of those twins was 99.98% identical (go figure out who exactly was the robber!). The twins were released.

In 2009, robbers stole nearly $7 million worth of jewelry from a Berlin supermarket. Only one piece of evidence was found at the crime scene - the glove of one of the suspects, and on the basis of a DNA test, two, as it turned out later, identical twins were detained. Identical twins have absolutely identical DNA, and no additional evidence of guilt has been found. As a result, the court was forced to release the twins. And this is far from the only case in world judicial practice when a criminal is released from liability due to the presence of an identical twin.

In 2002, an American Lydia Fairchild, when divorcing her husband, underwent a DNA test for relationship with her children. To her great surprise, DNA analysis showed that she was not the mother of her two children. At that time, she was already 6 months pregnant, and after giving birth, DNA samples from the baby showed that the DNA of the mother and the newborn did not match, i.e. de jure, she is not a mother to him either. Further research showed that Lydia has a chimerism: an organism consisting of genetically heterogeneous cells, developed from the fusion at the stage of conception of two eggs fertilized by different spermatozoa, and having different DNA sequences in different tissues.

Today, with the help of a DNA test, it is possible to establish where we came from, who our ancestors were, who lived hundreds and even thousands of years ago, find out your belonging to a certain genus, find out where it originates, how it settled on the planet and where is currently the largest area of ​​​​residence representatives of this genus.

DNA tests today are an absolutely unmistakable way to determine paternity or motherhood, to establish family ties: they resort to it even in the most complex and confusing cases when archival data cannot help or is lost, or there are doubts about the reliability of the results of doctors. DNA tests to determine kinship are simply necessary in the case of the immigration process, going abroad for permanent residence or when entering into inheritance rights. A genetic examination made by DNA establishes paternity with an accuracy of 99.99 percent or more. This study gives a negative answer with 100% accuracy.

In conclusion, we can say that in the coming decades, genetics will bring many more surprises to its researchers, give rise to many imaginary and real sensations, disputes and even scandals will rage around it.

The individual DNA profile remains unchanged from the rest of life. It shows the genetic similarity with relatives, as well as the uniqueness that distinguishes from other people. This hereditary information is encrypted in the form of a sequence of nucleotides that make up a DNA thread. Each person's DNA is unique. Differences in it for all appearance, character, abilities, health, addictions, predisposition to activities.

DNA is found in every cell in the body.

Based on this information, a person's genetic passport is compiled. The genetic passport (GP) is currently understood as either a health GP or an identification GP. A genetic passport can be made in a laboratory that has the ability to perform DNA-. To do this, you need to pass from a vein, as in a biochemical analysis. As a rule, the study is completed within seven days. Genetic passport data can be stored in paper and electronic form.

Why do you need a genetic passport

An identification passport is called individual data on a person's DNA. They are written in the form of a cipher, which is understandable only to a specialist. The identification GP is used to identify the person, (like a fingerprint). Usually it does not carry information about human health. The genetic health passport contains information about the features of the DNA structure, a person's predisposition to a number of hereditary diseases. DNA studies make it possible to diagnose before the onset of symptoms and "predict" the likelihood of neurodegenerative, oncological diseases. Based on these data, the doctor can choose a balanced diet, recommend a program for effective correction of excess weight, and adjust the doses of medications.

The genetic health passport also contains recommendations for the patient and his attending physician on the prevention of high-risk diseases.

Based on the data of the genetic health passport, the doctor will recommend to professional athletes a safer and more rational training regimen, the necessary diet and dietary supplements, prescribe preventive measures related to sports load, and even indicate the athlete's potential in this sport. For expectant mothers, there are genetic programs for planning pregnancy, preventing complications of this period.