Genetic testing. Genetic test as a type of genetic examination. How do I know if I can take this test and make sure it gives accurate results

In September, the Atlas Medical Center opened in Moscow, which specializes in "personalized" and "preventive" medicine. The center offers its patients to first make a screening test "My genetics", and then develop a prevention and treatment plan based on its results - identified predispositions and risks of diseases, as well as genetically determined reactions to drugs.

Mass sequencing of the genome was started in Russia back in 2007, so there are already several similar companies on the market. However, Atlas has stated that its goal is to make genotyping popular and accessible, much like 23andMe, the American company of Sergey Brin's ex-wife Anna Wojcicki, in which Google has invested nearly $4 million, did. The popularity of 23andMe obviously haunts the owners of Atlas, so they even registered the domain 23&me.ru for themselves.

The creators of the test promise not only to assess the predisposition to 114 and determine the carrier status of 155 hereditary diseases, but also to reveal the secret of origin, give recommendations on nutrition and sports, and provide a free consultation with a geneticist who will tell you how to live with the information received. The My Genetics test costs 14,900 rubles, which is on average two times less than the cost of a similar test from competitors in Russia. The brochures of genotyping companies look promising, but few people understand what kind of information they will get their hands on by handing over their DNA, and how it can then be applied in real life.

The Village asked Alexandra Sheveleva to do a genetic test and tell readers about the results.

Sasha Sheveleva

Man is attracted by self-knowledge. Fortune telling by hand, natal chart, genealogical research, diet by blood type - I want to know exactly who I am, where I come from, how I differ from others and whether I have successful relatives in New Guinea. Therefore, it was terribly interesting to find out what my genes would tell about me.

To donate a piece of your DNA, you need to register on the site and in personal account call a courier who will bring you a box with a plastic test tube, a barcode and an agreement on the use of your biomaterials. Before you fill the test tube with saliva (it takes a long time to spit), you can’t eat, drink and kiss for half an hour. After filling, the test tube is closed with a special stopper, which contains a liquid preservative, and the courier is called again. In addition, in your personal account you will be asked to fill out a fairly detailed questionnaire about the diseases of your relatives and your lifestyle (what you eat, how often you play sports, what you were sick with and what operations you did). They promise to send the test results in two weeks, but in my case it passed whole month. As Sergei Musienko, the founder of Atlas, later told me, they conduct DNA research at the laboratory of the Research Institute of Physical and Chemical Medicine in Moscow.

The report itself looks like an electronic page with a rubricator: health, nutrition, sports, origins, personal qualities and recommendations.

The most serious and reliable heading is health: in it the connection of certain types of genes with a possible disease is confirmed scientific research in which more than a thousand people took part. Here, the risks of developing diseases are grouped in percentages and compared with the average risk for the population, hereditary diseases are displayed, as well as the so-called pharmacogenetics, individual sensitivity to drugs (allergic reactions, side effects).

The Village correspondent tested negative for a genetic variant often found in curly-haired people

The highest risks for me, according to the test, are melanoma (0.18% with an average risk of 0.06%), systemic scleroderma(0.05% with an average of 0.03%), diabetes type 1 (0.45% with an average of 0.13%), cerebral aneurysm (2.63% with an average of 1.8%), systemic lupus erythematosus (0.08% risk with an average risk of 0.05%), endometriosis (1.06% with an average risk of 0.81%), arterial hypertension (42.82% with an average risk of 40.8%). Well, and so on. In addition, the test revealed that I am a healthy carrier of a gene variant associated with periodic illness. My sensitivity to drugs turned out to be completely average, unremarkable, so no special side effects or allergic reactions the test did not reveal.

In the "Nutrition" section, I was recommended what all magazines about a healthy lifestyle recommend to their readers - balanced diet and for some reason, no more than 998 kilocalories per day (at the rate for an adult who does not play sports, 1,200). They did not recommend eating sweet and fatty foods, drinking strong alcohol, eating potatoes or eating rice, they banned sweet and fried foods. In general, everything that could be advised to any Russian over 18 years old. I was suspected of being lactose intolerant and banned dairy products, although I never had any problems with milk. Despite this, in the "Recommendations" section, I was advised to eat "more dairy products every day" (the developers later said that this is a bug), because milk "reduces the risk of developing diabetes", which I have increased. If you drink it instead of sweet soda, then it probably reduces. But now progressive humanity is already thinking about how much milk is generally necessary for an adult - the connection between milk consumption and strong bones and replenishment of vitamin D, which was discussed earlier, has not been found.

In the "Sports" section, I was called a "sprinter" and advised strength training, so they recommended handball, rugby and swimming and banned running, basketball, equestrianism and winter sports. To my surprised question: “Why was running banned, which is possible for almost everyone?” - Geneticist Irina Zhigulina, with whom we later spoke, replied that we were talking about professional sports. They don't think I'll be a professional runner.

In the Origins section, I had an interactive infographic about how my maternal ancestors left East Africa 150,000-180,000 years ago and moved into Northern Europe. I do not have a Y chromosome, so what happened to the paternal line is completely incomprehensible. My hopes of finding successful relatives never materialized - the slider stopped at the mark "500 years ago" and gave the result that 50.9% of my DNA is from the inhabitants of Northern Europe. It is a pity that this is not at all what 23andMe test buyers get, for example, who are given access to a social network where they can find their relatives. And I really wanted to live such a story as Stacey and Greta, who found out that they are sisters, thanks to 23andMe!

I was most surprised by the information under the heading "Personal Qualities". Then I found out that I have a reduced risk of developing nicotine addiction, there is a predisposition to absolute pitch, no risk early menopause and there is a tendency to avoid harm. The creators refer to this section as “entertainment genetics” because the data in it is built on the basis of experiments with a small sample of subjects (less than 500). But they did not entertain me at all, but upset me. First, it turned out that I have no predisposition to curly hair: “you have not identified a genetic variant that is often found in curly people,” although I am curlyer than many astrakhan fur coats. And secondly, I “have not identified a gene variant found in most creative people.” Third, I am an introvert.

Box with genetic test
Inside is an agreement to use your biomaterials
As well as a test tube that needs to be filled with saliva

The test results end with recommendations to consult with a general practitioner (for the risk of systemic lupus erythematosus), with an endocrinologist (for diabetes mellitus) and with a dermatologist (scleroderma, melanoma), as well as annually take a blood test, do a mammogram, from the age of 40 - regularly ECG . They also recommended drinking coffee and milk, vitamins, exercising regularly and rarely sunbathing.

Irina Zhigulina, the Atlas geneticist who called me after receiving the results, reassured me by explaining that genetic risk- this is only a predisposition, and not at all a future diagnosis and lifestyle can correct this risk. According to her, one should carefully look at relatives - at what age and how they started to get sick.

Irina explained that high risk most of the diseases that I may be genetically prone to (hypertriglyceridemia, coronary disease, diabetes mellitus) are reduced by a healthy lifestyle and reduced stress. And the disease, the passive carrier of which I can be, will never manifest itself, but you should not choose men with the same mutation as fathers for the unborn child. “But in general,” Irina concluded, “you ideal woman. And curly hair is a complex trait, and it depends on more than just one gene.”

After I sent questions through the Atlas press service about the lack of a genetic propensity for curly hair and creativity, the results of my test in my personal account changed. Now, about curly, it was written that my hair “prone to straightness by 23%, wavy by 48% and curly by 29%”, and data on the lack of creativity disappeared altogether.

Sergey Musienko, CEO of Atlas, explained that a personal account is a living organism that changes depending on the appearance of new research, but they have not yet implemented a notification system for clients about this. I'm one of their first clients, so they listened to my feedback, looked again at the study, which concluded that genetics and creativity were linked based on too small a sample (58 people), and decided to remove this attribute altogether before new data appeared on larger sample. The data on my curlyness is determined by several positions of the gene, so there is no one-to-one correspondence between the gene and the curly hair. Previously, they used one position of this trait, and now they use three - and this is how the change in my results happened.

Since I am neither a doctor nor a geneticist, I asked Konstantin Severinov, head of the laboratory for the regulation of prokaryotic element gene expression at the Institute of Molecular Genetics of the Russian Academy of Sciences, Konstantin Severinov, head of the laboratory of molecular genetics of microorganisms at the Institute of Gene Biology of the Russian Academy of Sciences, and my mother, a general practitioner, to comment on the results of the test.

KONSTANTIN SEVERINOV

Doctor of Biological Sciences, Professor at Rutgers University (USA), Professor at the Skolkovo Institute of Science and Technology (Skoltech)

With the exception of rather rare markers for heavy genetic diseases(such as cystic fibrosis), the benefit of such predictions tends to be zero. This certainly applies to IQ markers and sports and diet advice. The problem is that the likelihood of genetic risks for diseases is so small that most people will never experience these diseases. Even an increased likelihood (whatever that means) of what is already quite small has no real meaning and is not a serious probability of developing the disease.

No one can say what exactly the phrase “the risk of developing disease X is five times increased” means for a particular person.

irina sheveleva

therapist and mother of the subject

Diabetes mellitus 0.45% - this means that it is not there, a serious risk is 30-40%. SLE (systemic lupus erythematosus) is so rare disease that in all the years of practice I have only met patients three times who have been proven to have lupus erythematosus. In my opinion, Dr. House, unlike me, in six seasons never found a single such patient. Scleroderma is exotic systemic disease, in which it is affected connective tissue, alcoholics mostly suffer from psoriasis, Sasha has already passed type 1 diabetes mellitus, this is childhood diabetes, which manifests itself in early age. Type 2 diabetes can only occur if a person is seriously gaining weight. Hypertension - also somehow looks suspicious, because in our family all are hypotensive. Melanoma is a malignant skin tumor that affects people with very high incomes more often because they travel from one resort to another during the year. Before coronary disease you still have to live: until the age of 70, women are protected from it by hormones. Ulcerative colitis can develop if you eat once a week and change the immune system in such a way that, instead of neutralizing the agents that come from outside, it will begin to spoil the tissue own organism. If ulcerative colitis manifests itself, then up to 30 years. This is a rare disease, we have one such patient in 30,000 of the population we serve. Armenians, Jews suffer from periodic illness, I saw one Arab. It is also called the disease of the Mediterranean. This is such a rare systemic disease, once you see such a patient and then you will talk all your life. Sasha was recommended " balanced diet". Well, who would argue! We all need to balance our diet. Only, consuming 998 kilocalories per day, she will not last long. 1,200 kilocalories barely covers the expenses of a person leading sedentary image life. An endocrinologist would have killed on the spot for such a recommendation. The results of the test revealed a tendency to lactose intolerance. But that means you drink pasteurized milk from a bottle and 20 minutes later you have an upset stomach. But this is not true. If this test was done correctly, then it was misinterpreted, because there is no binding to a specific person and very general recommendations.

sergey musienko

General Director of the biomedical holding "Atlas"

A genetic test analyzes DNA and characterizes in several ways: a person's susceptibility to common diseases, hereditary disease carrier status, drug response, and ancestry data. The results differ in the degree of scientific validity: some data are more studied, some require additional research. In the personal account, the screening results are divided by reliability - from one star (data from less than a thousand people were studied) to four stars (studies were conducted with the participation of more than a thousand people and recommendations for disease prevention were developed). 29 out of 114 common diseases (such as type 2 diabetes) and all hereditary and drug reactions have the maximum confidence status. In your personal account, the results of each direction are supported by a link to science articles. The Atlas screening test evaluates about 550 thousand gene variants, which makes it possible to determine a person's predisposition to 114 common diseases, the carrier status of 155 hereditary diseases and the response to 66 drugs.

All tests are carried out in a Moscow laboratory based at the Research Institute of Physical and Chemical Medicine. Biological material is collected in a test tube with a special preservative solution, DNA molecules are isolated from saliva in the laboratory, which are then copied a huge number of times. The obtained millions of copies of DNA are cut into small pieces, processed and placed on a special DNA chip, which is placed in the scanner. On each of the 12 cells of the chip (one cell per test sample), short sections of synthesized DNA are applied, with which the DNA of the test sample interacts or does not interact. The device determines a successful reaction with the test sample and outputs information about point changes in the test genome in the format of a huge picture. The data is then converted into a table with 550,000 rows for each sample.

Then the most interesting thing happens - the interpretation of the data. This part of the analysis is our own development and allows us to compare the obtained results with the results of thousands of the most up-to-date scientific articles and clinical guidelines on disease prevention. You will see the results of this algorithm in your personal account in the form of infographics and lists of studied features. On average, the analysis of test results takes two weeks. The technology of genotyping using DNA chips that we use is young, but has already proved itself in hundreds of scientific projects around the world. This solution is also used by 23andMe for its analysis.

However, we managed to make this technology available to Russian customers (it is more expensive for other Russian companies). An important difference of our company is a close connection with the doctors of our own medical center. After passing the analysis, the user can undergo an online consultation with a geneticist who will help interpret the results - it is included free of charge in each test. Also, a person has the opportunity to make an appointment with a doctor, show test data and develop an individual examination plan. At the same time, we do not impose the services of our medical center - it can undergo further diagnostics at any other clinic. Before taking the analysis, the user fills out a questionnaire about the features of his lifestyle, which subsequently becomes part of his electronic medical card, which combines the data of the medical history and the results of the study. Access to it is available to both the doctor and the patient.

Photo: Ivan Anisimov

Genetic tests in Russia: players, problems and trends

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Over the past decade, the methods of genetic analysis, the approaches of medical genetics and genomics have become much clearer and more accessible to the mass consumer. Medical clinics and start-ups offer services based on genetic analysis, in Russia this market is also growing and developing. Not only end users, but also corporations and states are interested in genetic technologies. Rusbase tried to figure out what is the structure and prospects of the market for services related to genetic analysis.

The material belongs to the heading. In it, we popularly talk about technologies that are reshaping existing business processes and creating new markets.

The rubric's partner is EMC Corporation, which helps companies effectively use the capabilities of their IT infrastructure for digital business transformation.

Genetics- studies the mechanisms of heredity and variability, transmission of traits between living organisms.
Genomics studies the genetic structure of a single organism.
Genome- a set of hereditary information, according to which the organism develops.
medical genetics deals with mutations and other factors responsible for hereditary diseases. He studies the patterns of transmission of hereditary diseases, develops methods for diagnosing, treating and preventing the development of such diseases.
medical genomics explores the human genome and the genomes of pathogenic organisms in order to solve the problems of applied and clinical medicine.

Why do people do genetic tests

The most important milestone on the way to applied public medical genomics and genetics was the decoding of the human genome. Which, however, is not fully completed to this day. But brought to a fairly meaningful overall picture structure of the human genome and the role of nucleotides in it, their sections and sequences, their functions and relationships.

Thanks to the decoding of the genome, it has become much easier and cheaper to identify predisposition to various diseases, both hereditary and non-hereditary. To solve such problems, it became sufficient to analyze a specific section of the genome, and not to search for the entire set of hereditary information. It became possible to associate many signs and pathologies with specific genes, which makes it possible to narrow the field of study and simplify its methodology.

Thanks to these opportunities, personal genomics began to develop - as a science and as a service area, a niche for business and start-ups. It is the branch of genomics concerned with the sequencing and analysis of the human genome.

It should be noted that specialists in medical genomics and genetics do not distinguish between hereditary and non-hereditary diseases. Any pathology, including even trauma, arises and develops only due to the presence and severity of certain predispositions that are genetically determined and formed using the mechanisms of heredity.

Moreover, the diagnosis and treatment of diseases is not the only area of ​​application for genetic analysis and personal genomics. Other groups of consumer services include:

1. Predictive medicine, that is, the identification of predispositions to certain conditions and diseases based on gene analysis. The two most common areas of such analysis are the search for genetic markers and the genome-wide search for associations. Genetic markers are proteins that signal the statistical (most often) association of a particular gene sequence with certain disease. Genome-wide associations are links between gene sequences and phenotypic traits (external and intrinsic properties organism acquired during development). Oncogenetics stands in a separate place, in particular, the analysis of changes in the genetic and chromosomal apparatus malignant cells, which helps to identify cancer cells on the very early stage its development, while the methods of cytology and pathology do not fix any changes.

2. Pharmacogenetics- selection of drugs based on genetic characteristics. Predicting the effect of a drug on the body, allergies. Development of safer and more effective drugs.

3. Family planning- testing the compatibility of spouses, the search for biochemical markers pathological conditions, dangerous during pregnancy, markers that signal the likelihood of developing diseases in a child. Prenatal genetic screening is a search in the blood serum of a pregnant woman for biochemical markers that signal the likelihood of genetic or chromosomal abnormalities in the fetus.

4. Study of personal genetic history- ethnicity, origin, pedigree. Genetic examination for paternity, motherhood and other types of family ties.

5. Professional orientation of children- identification of predisposition to various types sports, art genres or other areas of activity. In criminology, attempts are also being made to associate with genetic characteristics the propensity to certain types crimes, but these studies have not yet entered the market for services and products.

Ethnic origin analysis is performed by searching the customer's genome for 175 genetic markers specific to one of the four historical population groups of people, namely:

• European group: Europe (North, South, Middle East), Middle East, Indian subcontinent (India, Pakistan, Sri Lanka)
• East Asian group: Japan, China, Mongolia, Korea
• Southeastern Group: Philippines, Malaysia, Australia, Oceania
• African group: Sub-Saharan (Nigeria, Congo, etc.)

The cost of whole human genome sequencing is declining year by year due to advances in technology and computing power, as well as increased competition. This contributes to the development of start-ups in the field of personal genomics. State regulation on Russian market such startups are not hindered yet. It is important for them to commensurate their activities with health legislation and obtain a license to carry out medical activities if certain services fall under this definition. And also comply with the laws governing the handling of personal data.

The vast majority of companies providing personal genomics services, even if they have a medical license, state in their license agreement and rules for the provision of services that the result of the provision of these services is not a medical conclusion or diagnosis, that the services do not include methods of prevention, diagnosis, treatment, medical rehabilitation; that the information obtained as a result of testing is intended for cognitive, educational or entertainment purposes. This keeps you out of regulation. medical services and reflects the actual state of affairs: the results of genetic analysis should be interpreted by physicians specializing in specific pathologies.

Companies working or planning to work in the field of personal genomics should follow the lawmaking process of Russian regulators, as they may pay closer attention to this niche.

The market of genetic tests through the eyes of its players

We asked the leaders of the Russian market for personal genomics services to assess the volume, risks and prospects of this market.

The market segment for diagnostics of rare hereditary diseases is about 200 million rubles a year. Segment of tests for predisposition to multifactorial diseases - personal genetics - about 100 million rubles.

Growth rate: about 20-30% per year.

Now three services are most in demand: tests for predisposition to multifactorial diseases (risks of developing cancer, cardiovascular and other diseases), genealogical DNA tests and services for the diagnosis of rare hereditary disorders in children.

The most popular services are related to disease prevention (health and longevity), personal fitness, genetically appropriate nutrition, and injury susceptibility.

The genetics market (with the exception of paternity tests) is in its infancy. In almost all niches, we see market growth of more than 10% per year, and largely due to the displacement of other non-genetic methods.

There are 2 problems of growth: legal - in Russia there are no specific regulatory acts for genetic tests, which differ greatly in many procedures from simple biochemical ones. As a result, some genetic tests are banned, while others have virtually prohibitive barriers to the creation of laboratories.

A significant limitation is the unpreparedness of the population and doctors for personalized and preventive medicine. Few people care about prevention, and most doctors do not have modern technologies disease prevention. That is, the results of a genetic test can only be used by the most qualified specialists.

On the this moment of Russian companies, only Genotek entered foreign markets - 15 countries, except Russia. The markets of Brazil, Mexico, Iran and a number of European countries - Austria and Lithuania look the most interesting for us.

Valery Ilyinsky

CEO Genotek

According to our estimates, the global volume of the world market in 2016 will be about $12 billion, the market volume in Russia will be up to $60 million. early stage the birth of the market. Segmentation is in progress: prenatal diagnosis, oncogenetics, pharmacogenetics, consumer genetics. Large companies have not yet had time to grow, and everyone has a chance to "shoot".

Bursts of informational occasions also play a significant role in the spread of interest in genetic testing. An example would be the story of Angelina Jolie, who removed her mammary glands. Genetic testing showed that she had a mutation in the BRCA1 gene, which significantly increases the risk of developing oncological diseases breasts and ovaries.

The most popular now are the services of diagnostics and research of the carrier status of hereditary diseases. The services of non-invasive prenatal DNA diagnostics of hereditary diseases are gaining popularity.

There is a growing demand for complex screening genetic tests that allow assessing predisposition to the development of multifactorial diseases, the status of carriers of hereditary diseases, individual sensitivity to medicines, ethnic background and more.

In the world, there are two extremely promising research areas in the field of genetics, for which there are no practical examples of implementation in Russia yet. This is a study of the human intestinal microbiome and the creation of an integrated service molecular diagnostics in oncology.

Any patient with oncology needs to select an individual drug from a wide list of medicines. In addition to expanding the list of drugs, it is important to improve the accuracy of biomarker detection. We are developing a comprehensive diagnostic service Solo, which combines all the modern capabilities of biomarker studies for the optimal selection of therapy for cancer patients. With the support of the Ministry of Education and Science, the project is developing a method for non-invasive analysis of a tumor using a blood sample, which will simplify and increase the accuracy of the Solo study.

Sergei Musienko

CEO of Atlas Biomedical Holding

MyGenetics works in the segment of direct-to-consumer DNA tests (when a person receives and uses the results of a DNA study on their own, without recourse to third-party specialists). According to our calculations, the current volume of this segment in Russia is 300-400 million rubles, the annual growth of the market is 20-25%.

In our segment, services are gaining more and more popularity, behind which a person sees specific recommendations and advice. Even 2-3 years ago, DNA tests were ordered by a certain type of people who were interested in new things, self-knowledge, self-development, etc. Most of them were driven by curiosity. Now we have the bulk of our clients - these are ordinary people, housewives, workers, employees, pensioners who use the opportunities genetic research for their quite mundane tasks: reset excess weight, get rid of digestive problems, improve athletic performance, reduce the risk of developing certain diseases. It is no longer enough for them to get just the results of a DNA test, they need specific personal recommendations for certain cases.

Genetic research is one big promising niche, the market has just begun to develop, it cannot be said that some niches have already been “worked out” here and it is time to move on to new ones. Any news occasion can cause a rush demand for a particular service. So, most recently, Momondo held a campaign called "Traveling in the Footsteps of DNA", raising a wave of interest in genetic research in genealogy.

Genetic research on anti-age is very promising. The population of the Earth is aging and is still unsuccessfully looking for a pill for aging. The current level of development of biotechnology and genetics allows us to hope for major breakthroughs in this direction in the near future.

The main limiting factor in the active development of our (direct-to-consumer) segment is the low awareness of society and the population about the modern possibilities of genetics and its availability. Many people think that genetics is a purely scientific discipline, with no applied value. Knowledge of what opportunities genetics provides in terms of personalized medicine is almost absent among medical personnel. We face this all the time. We have to train specialists from different regions on our own and with resources. At the same time, we understand that this is a national task and it should be faced by the relevant ministries and departments, and not by a private company.

The markets of developed countries are promising in terms of their potential volume, but at the same time they are more mature and have their own established structure and rules of the game. This is both a minus and a plus. In the US, I presented the MyGenetics project to the scientific and business community. I did not surprise the scientists there, but the entrepreneurs became interested in our product, how we packaged it and in what format we sell it. Clients receive the results of DNA tests in the format of a glossy magazine, where plain language provides information about the genetic characteristics of nutrition and physical activity. In the US, healthy eating is a well-established trend. And the niche of our company - nutrigenetics, "nutrition by genes", clearly fits into this trend. Therefore, trying your hand at the US market is a very tempting prospect, but we understand that this will require significant resources. So at present, we are focusing on the market of Russia and nearby countries. Although we are already actively negotiating with a partner about our representation in Europe. We hope that the first sales from Europe will start this autumn.

Vladimir Volobuev

Managing Director and Co-Founder of MyGenetics

Companies known in the Russian market

Artur Isaev

Founder of Genetico

Therefore, the genetic test itself is still an entertaining and educational product for a premium audience. To translate its effect from an entertaining to a practical field, consultations of specialized doctors, additional analyzes, recommendations of professional experts in nutrition and other aspects of lifestyle are needed.

Our companies have good prospects for entering foreign markets. Genetic tests in the US and Europe became known much earlier, but the problems of high-quality packaging of these services into a consumer product that is understandable to a mass audience are also in the process of being solved there.

Another risk when working in Russia is the price of reagents, which depends on the dollar exchange rate.

B2B, scientific projects

OncoFinder. Selection of optimal therapy cancerous tumors based on the study of anomalies in a cancer cell. Solves the problem of suboptimal selection of chemotherapy. Among the products are both a package of recommendations based on the results of the test of biological samples (60 thousand rubles), and access to a cloud service for self analysis(the cost is one and a half to two times less). The founders of OncoFinder say they have raised more than $1 million in investments, and the products are being sold to 15 Russian and 10 foreign clinics and laboratories.

In the Netherlands, about 200 biobanks have already been created, which cover the data of 900 thousand inhabitants, that is, 5% of the total population of the country. The next stage in the development of the program is to ensure the interaction and exchange of data between existing banks.

Thus, biobank data doubles in volume approximately every 7 months. Each year, DNA sequencing labs generate several petabytes of sequenced data per year (1 terabyte contains about 1 trillion DNA subunits).

The importance of the development of gene banks cannot be overestimated. With their help, it is possible to identify genes and mutations responsible for the occurrence of certain diseases, to carry out their early diagnosis. On this basis, work is underway to create targeted drugs and treatment methods. The first difficult task is to start forming such a bank, the second, no less important, is to create a convenient information infrastructure to ensure the exchange of data between participants, as well as other banks. Solving these problems will help the doctor and the researcher quickly and easily find potentially valuable information for treatment. Only in this way can biobanks become one of the main driving factors in the development of new predictive medicine.

Molecular data in terms of volume is beginning to occupy one of the first places among all data sources. The niche of genetic tests is just not most of this volume. Already in the next decade, genomics is estimated to be producing zettabytes of data per year.

The main task becomes the right way interpret these data for scientific and medical purposes, use them to treat patients. To do this, it is necessary not only to collect genomic information, but also to provide conditions for its reliable storage and active use. In order for this data to be processed easily and quickly, it is necessary to organize convenient access to it for doctors and scientists.

For a doctor, not the giant amounts of information obtained as a result of DNA or RNA sequencing are of value, but only the results of their complex mathematical processing, as well as comparisons with similar data from other patients obtained by researchers and doctors around the world.

Therefore, the new medicine is seriously dependent on the progress made in the field of information technology. It can even be said that it is completely based on technologies for processing, storing, analyzing and engineering new, molecular data (combined with "traditional" medical information - a description of the manifestations of the disease, test results, etc.). A completely new industry is being formed - the industry of biological and medical information technologies (bioIT).

In Russia, the creation of such technologies and the solution of the main tasks of bioIT is carried out, for example, by the EMC Moscow Research and Development Center for Cloud Computing and Big Data in Skolkovo. Now, together with foreign colleagues from EMC, we are working on a project to create a convenient information infrastructure that will help a doctor and a researcher find information valuable for treatment, analyze and share it for research and applied use.

The system will speed up the work of doctors who still manually search for information in numerous sources. It will provide clinics with the opportunity to collect accumulated knowledge and navigate them effectively.

One of the elements of this system has already received positive feedback at the exhibition and conference in the field of information technology, bioinformatics and genomic medicine BioIT World. Now we are implementing a pilot project in a large American clinic.

Leonid Levkovich-Maslyuk

General Director of the EMC Research and Development Center for Cloud Technologies and Big Data at Skolkovo

What did the genetic test passed by Yulia tell about her health, sports, nutrition, origin and personal qualities.
I wanted to make a “general educational” genetic test for a long time - even when 23andme appeared only in the States. But it was difficult to bother with sending saliva for this (it was necessary to order their test box somewhere in Europe and send it back to the States from there) and not so urgently necessary. About two years ago, their own genetic tests of a similar nature began to appear in Russia - and I finally decided to get to know my genes better.

Many people stop at reading the results - but I highly recommend not to neglect the consultation with a geneticist (via Skype), which is still included in the cost of the test - it turned out to be very useful for interpreting my results and concrete further steps began to be understood.

“It is important to understand that our test is not diagnostic, but screening,” Atlas geneticist Irina Zhegulina told me. It doesn't mean it's not accurate. If our test didn’t find something for you, it means that you really don’t have it. We are looking at 560,000 "points" - you can imagine how much that is. And we get signals from certain places in the DNA. If we have identified something, especially in monogenic diseases, as a geneticist, I recommend confirming this mutation or disproving it already PCR method at the Medical Genetic Center of the Russian Academy of Medical Sciences on Kashirka. On PCR, primers are selected for a specific gene and the reaction occurs precisely in the gene, and not in the pseudogene (this is its copy). If the mutation is not confirmed by PCR, most likely this polymorphism was found in a pseudogene and you need not worry - you will exhale and relax. And if confirmed, this is your first step towards solving the problem.

Together with her, we look at what risks I have.

The personal account looks like this

Health

First of all, we go to the section "Health", where 355 indicators are examined. Irina immediately switches to monogenic diseases - and discoveries begin. "You may be a carrier of the gene Sandhoff syndrome, a very debilitating disease. You yourself will not get sick with it, but if, for example, the cards turn out like this, that your husband is also a carrier of such a gene, there is a high risk (1 out of 4) that your child will be born with this syndrome. To know for sure, take a PCR test for this gene with your husband. ”

And what if we are both really carriers? “Everyone decides for himself. Some women still decide, despite the 25% risk. Then, at the screening at week 15, they will already find out if the fetus has this gene - and they have to make difficult decisions. But there are more advanced technologies today - IVF and pre-implantation genetic diagnosis (PGD). An egg and a sperm are taken from a couple, and about five embryos are obtained in one cycle. Then, on the fifth day of their development, they take one cell, which will be a placental cell - it contains DNA from dad and mom and already contains its own unique code for the future person. The embryo that will not get sick is selected. In addition, they also look at the chromosome set so that there are no syndromes of any kind, for example, Down syndrome - IVF does not insure against this, but with PGD it is possible. In some cases, PGD really helps to avoid the hard fate of having a very sick child. This is the main and basic thing in genetics.” I decide that our family cannot do without a visit to the Moscow State Center of the Russian Academy of Medical Sciences. At the same time, frames from the movie "Gattaca" flash through my head.

Next, we look at the risks of which diseases I have the highest. The list is long, but the risks vary greatly. At the top of the list are those that have 4 stars in terms of the reliability of the result (this means that at least 2 large gene studies per 1000 people have been conducted for this disease and there are reliable recommendations for prevention). Then there are 3 stars - also 2 studies, but no reliable recommendations. The findings of the gentest with two stars and one, that is, the least reliable - mainly in the "Personal qualities" section, which is just the most entertaining of the entire study.

How is disease risk assessed? "Let's take arterial hypertension, which you have in the first place, - explains Irina. - Certain mutations in genes are more common in people with hypertension, these mutations almost never occur in healthy people. When a study is done on 1000 people, the most significant ones are eliminated from these polymorphisms (mutations) and 25-30 are left, which have a really high weight in predisposition to the development of this disease. For each disease - a separate study. We take into account a huge number of these studies for our test. ” My risk for hypertension is a combined 44% (population average 40%) which is a lot. “Thin, asthenic girls often think that they have low blood pressure, they are so used to it,” says Irina. - But the body is an insidious deceiver, and by the age of 30-40, the pressure can become elevated, and you will continue to think the opposite. Buy automatic blood pressure monitor and check in periodically when you don't feel well."

Together we go through my other potential illnesses. “Osteoarthritis and osteoporosis – in women, these risks often go together. Osteoporosis means that bone tissue the process of destruction prevails over the process of restoration. And osteoarthritis damages the joints. The main thing here is prevention: lifestyle, nutrition, right classes sports. For example, I would not recommend deadlifts to you and shock loading should be avoided. Do you love running? Then run properly, in good shoes with good cushioning and better in the woods, not on asphalt. These risks are so high that you should be proactive to prevent them from appearing. Calcium and vitamin D3 should be taken in courses. And starting from the age of 40, do densitometry once a year, this is a special study of bone density.

Let's go over the list. " Dupuytren's contracture is a disease affecting the palms. We have a lot of stem cells in our limbs, so that if we, for example, cut ourselves, our hands heal quickly. If you frequently use dumbbells or resistance bands, the stem cells in your palms are signaled to turn into muscle. In this disease, they misunderstand the signal and turn into a fibroblast that produces a scar. As a result, the tendon may become less elastic, because the scar does not stretch - and only surgery can help here. In general, do not get carried away with the expander.

Remembering my tendon injury, I wonder if it only works in the hand? “It was this disease that was examined on the hand. But if you think logically, if the response to some kind of excessive stimulation of stem cells is disturbed, can it be in the whole body? So I would not recommend you, for example, procedures with a mesoscooter - these micro-punctures, especially on the scalp, can turn into scars. Not your choice." I am glad that I scored on my mesoscooter a year ago -)

I am very amused by the risk of obesity. “This risk is directly related to the metabolism of dopamine, the hormone of pleasure and addiction. If you do not have depression and dopamine is functioning well, then there is no risk of obesity. And your genetic risk is even reduced by your lifestyle. In multifactorial diseases, lifestyle can sometimes turn the whole picture around.”

I also get a recommendation to always use household chemicals only with gloves, so as not to provoke the development atopic dermatitis , which is also among the fairly high risks. Also, drink plenty of water to avoid urolithiasis. “This story about “drink more water” is right for you,” Irina laughs. - You need to avoid dehydration, if there is a hangover, poisoning - drink water. This helps prevent stones from forming. And more importantly, don't have chronic infections in the pelvis." There are also tips to avoid exercises with excessive straining on fitness (although low, but there is a risk of aneurysm abdominal aorta), be sure to treat all gastritis, duodenitis and manifestations of heartburn, if they appear (risk of Barrett's esophagus).

As a result, I only strengthen in my decision to continue to lead. healthy lifestyle life, so unexpectedly, but in the subject overtook me after 30 years. And eat right -))).

Food

There are a lot of interesting things in this section! "You genetic predisposition to low iron concentration in the blood. Be sure to take a blood test every six months, ”advises Irina. I tell her how I constantly struggle with anemia and for increasing the level of ferritin. “Low ferritin means your depot is so-so. That is, you are enough for the cells to carry oxygen normally, but every menstruation we lose a certain amount of blood. And God forbid some kind of injury - you do not have a depot to recover.

An interesting point - very sensitive to bitter. "What greens do you eat?" Irina asks slyly. I can honestly say that almost none. “There you are,” she smiles. - There was a large study where they took three bitter tastes - caffeine, quinine (as in Schweppes) and a synthetic super-bitter substance - and examined the polymorphisms of the genes that are responsible for the receptors on the tongue. It turned out that people with certain polymorphisms are more sensitive to bitter. Usually they drink coffee with sugar and milk and have a sweet snack. Your indicator is very high, all three receptors are very sensitive to bitter. Intuitively, you don’t eat greens either, but as a result you get little B vitamins, folates - they are found in the leaves. I’m shocked - I stopped drinking coffee a long time ago, I don’t even put greens in salads since the institute, I can’t stand Schweppes -))

That's not all about caffeine - I have increased rate of neutralization of caffeine in the blood. “Most likely, you don’t even have time to feel the invigorating effect from it,” says Irina. Yes, I didn’t understand at all before why they drink it - I had cases when I fell asleep after coffee -)).

I also know that I have no lactose intolerance genetically (although I still put the experience and refused milk for a month) and no problem with gluten(at least genetic - intolerance may be all the same). At the same time, I have may increase bad and good cholesterol in the blood (as well as general)- I get advice once a year to take a detailed biochemical analysis. AND - there are many different vitamins(A, E, C, D, and definitely all the B vitamins) since my body seems to be genetically wired not to keep them in me. The doctor recommends taking them separately in courses, and not in combination - she does not respect multivitamins.

Sport

Of course, I really wanted the genetic test to clearly say: “You, girl, are a marathon runner!” :))) But he said something else. Namely, that I am a generalist: I have endurance and strength at the same average level. “Well, you are almost a marathon runner, actually,” Irina smiles. “Endurance is good, aerobic capacity too.”

It explores genes and their combinations that tell you how you recover from stress, and stress different type- aerobic and power. For this purpose, studies have been done on airmen (which are mostly cardio) and powerlifters. And then combined with risks possible diseases(essentially contraindications) a number of sports are recommended to you, and some, on the contrary, are excluded.

It turns out that I can take a standard break between sets in strength exercises (pressure quickly returns to normal), but I I recover more slowly after them (a break should be done for 48 hours, preferably three days). But burn fat fast(haha! The coach will confirm -)). The test recommends me middle distance running, cycling, skiing, walking, rowing, table tennis and swimming. At the same time, I not recommended at all strength exercises"to failure", with axial load, with straining (deadlift and barbell squat), any high intensity workouts.

First of all, I am amazed that my coach Dima Stepin knows about this even without my genetic test - here it is, professionalism (by the way, my rehabilitation specialist said about the same thing).

In "Sports" you can also select one of the goals - recommendations fall out on it.

Origin

The name of the section excites the imagination, but in fact it is one of the most boring. Here you can find out that I have 53% of the inhabitants of Northern Europe and as many as 2.5% of the inhabitants of Africa, my maternal haplogroup (women do not have a Y-chromosome, so the paternal haplogroup is not determined).

So what if I'm 1.1% Neanderthal (with an average of 2.6% for Europeans).

Personal qualities

And this is another fun section, although often the least reliable, since not enough large studies have yet been done to rely on them.

Here we see:

• predisposition to absolute hearing(didn't notice at all!);
• harm avoidance. According to Cloninger, four traits describe human temperament: damage avoidance, novelty seeking, reward seeking, and perseverance. The first genetically prevails in me -);
• episodic memory is better than most. My husband will confirm - I remember a bunch of little things that he didn’t put off at all -)

Here you can find out a bunch of different things: I am susceptible to malaria and most noroviruses, my hair tends to be 23% straight, 48% wavy and 29% curly (so that's what you are! I don't just suffer by stretching you -)). Probability blue eyes I have - 72% (guessed!), I have a predisposition to fair skin.

I find that I have decreased perception unpleasant odors . Laughing out loud - eternal history: my husband smells something, but I don’t -).

And finally, after all these discussions of risks, this point pleases me the most: “There is a high probability that you will live over 95 years". Thank you, grandma, it seems that this gene is from you! -)

Genetic test "Atlas" now it costs 19,900 rubles (this includes a genetics consultation and individual recommendations).

"Genetics test"

Genetic tests are becoming more and more popular these days. Why and who needs them?

Candidate of Biological Sciences, Deputy Director of the Business Development Department of the Independent Laboratory INVITRO in Moscow, Alexander Anatolyevich Bonetsky advises.

- What is a genetic test?

- Each person is unique, his dissimilarity to others is largely determined by the inherent genetic information contained in the so-called genetic code. This is a special set of genes inherent only to this person, which are sections of the DNA molecule. The whole set of genes is called the now fashionable word "genome". According to estimates, in total a person has a little more than 30 thousand genes, and at the moment it has been deciphered about
20 thousand. The same genes different people similar but not the same. They have small differences, thanks to which we, in fact, differ from each other. The slightest changes - mutations - in the structure of a gene lead to the appearance of its new properties. The paradox lies in the fact that it is impossible to say unequivocally whether this change is a plus sign or a minus sign. For example, there is a gene encoding a protein that determines the attachment of a virus
sa HIV to blood lymphocytes. If this gene is found in an altered form, then the person - its carrier - will never get AIDS type I. On the one hand, this is a blessing, especially in our time. But, on the other hand, these same genetic changes will lead to a more aggressive course of hepatitis C if a person becomes infected with it. It turns out like this difficult situation. There are many examples where the number of "for" and "against" is almost comparable in their significance. According to scientists, in a few years, the complete decoding of the genome of any person may become a routine procedure. But that's in the future. In the meantime, we can offer genetic tests - the definition of certain variants of genes that are currently known to science.

- Why do genetic studies need an ordinary person?

– With the help of genetic research, predisposition to certain hereditary diseases can be determined. Information about them is just "contained" in the genes. There are mutations that are inevitable, for example, diseases such as cystic fibrosis, phenylketonuria, some types muscular atrophy, hereditary deafness. And there are those that are not realized in the form of diseases, but are a predisposition factor. That is, under certain conditions, they can detect themselves and cause illness. Genetic testing helps to identify these "weak" places in your heredity and give you the opportunity to
take "precautionary measures", so to speak, spread straws. Suppose a person has been found to have a gene associated with increased risk myocardial infarction, which means that he needs more than anyone to monitor his weight, blood cholesterol levels, nutrition. And be sure to stop smoking. AT
In this case, the risk of a heart attack is significantly, several times, reduced.

- It turns out that if you know your "genetic" risks, you can lead an absolutely unhealthy lifestyle and at the same time not have health problems?

“I wouldn't say so clearly. At first glance, a person who does not have a genetic predisposition to the same heart attack is less at risk than someone who has it. But, on the other hand, the presence of an unfavorable gene variant is not yet the final verdict. Indeed, along with it, there may be other genes that, when interacting, are able to neutralize the effect of an unfavorable gene variant. The situation is similar with smoking. There are genetic changes in which a certain enzyme is not produced that provides inactivation toxic substances entering the lungs with cigarette smoke. This leads to the accumulation of carcinogens in the body and the occurrence of lung cancer. If there are no such genetic changes, then a person can smoke and there are many examples when people smoke until they are very old and do not know what oncology is. Of course, it is not a fact that smoking in these people will not lead to others no less serious illnesses. Also, these people put others at risk by forcing them to passive smoking. And who knows, maybe it will be fatal for them?

- Atherosclerosis can be kept under control, but what about, for example, breast cancer? Here diets are powerless ...

– In such diseases, the main emphasis is on regular examinations. Only then is there a real opportunity to "catch" the disease at an early stage and cure it. Today, it has already been proven that "new" breast cancer lends itself well to correction with the help of medicinal and surgical methods.

- Well, with regard to those diseases that can be prevented, I understand. And why know something that, in principle, cannot be changed?

- Here it is necessary to clearly distinguish between those situations when there is still a chance to prevent something, and those when practically nothing can be done. In the first case I mean genetic predisposition to certain diseases in children. As a rule, most of the diseases that are 100% likely to be inherited - the same cystic fibrosis, hereditary deafness, and some others - can be detected by genetic testing of future parents. Also, now there is an opportunity, if necessary, to even test the embryo - pre-implantation diagnostics. It is really needed, especially for those people in whose families similar ailments already met. This makes it possible to realistically assess the situation. Ideally, it would be good to undergo such a study even during pregnancy planning, as well as for those parents who already have "problem" children. For the next child to be born healthy. And a completely different situation, when it is very difficult to do something to prevent the disease. This is more true for adults already, for example, determining predisposition to certain senile ailments. This problem is now very acute all over the world. European countries have even experienced a surge in suicides after people learned they were at risk of Alzheimer's disease, which is also called senile dementia. Unfortunately, it is currently impossible to cure and prevent this disease. And people who received such a verdict from geneticists found themselves in a difficult psychological state. Not everyone could bear it. Therefore, now many companies specializing in genetic research are refusing to conduct tests to assess the risk of diseases associated with intellectual disabilities, which are practically not amenable to correction.
We do the same in our independent laboratory. Although there are institutions that take the liberty of conducting such analyzes. As a rule, these are large medical centers who have in their arsenal of psychologists and psychotherapists who can, if necessary, provide psychological assistance.

– I know that in some countries genetic testing is prohibited for children under 16 years of age. Why?

- The reason is the same, ethical. Genetic testing, in fact, exposes the whole "inside and out" of a person. While he is small, his parents are responsible for him. How will they manage this information? Maybe they voluntarily or unwittingly harm the child? If a person comes to testing on his own, and not on someone's orders, at a more or less conscious age, he himself is responsible for himself. So consider in some European countries.
We allow genetic testing at any age. From a medical point of view, this is the most effective. The genetic code does not change
throughout life. The sooner a person recognizes his possible risks, the more likely it is to warn them. This is especially true in relation to the child: knowing
about weaknesses of his body, you can teach him from childhood to follow certain rules. It is much more difficult to retrain an adult.

– In what cases is genetic u1090 testing still used?

– Now more and more genetic research is being carried out before surgical intervention. In this case, the polymorphism of usually two genes encoding important proteins that regulate the blood coagulation process is investigated. This avoids complications such as postoperative thrombosis. If you know in advance about the hereditary predisposition to the formation of blood clots, you can take appropriate preventive measures. It is also very important to be aware of this if a woman is taking hormonal preparations. In the presence of certain variants of the genes of blood coagulation factors, their use is contraindicated. Such variants occur in 2-5% of women. Currently underway genetic analyzes to determine sensitivity to a particular drug. This is necessary to determine how this medicine is suitable for a person and what is its optimal dosage. So far, these are isolated studies. But this area of ​​medicine - pharmacogenetics - is now actively developing.

How long will it take to wait for results?

- On average, the conduct of the genetic study itself and the preparation of a conclusion takes about 2-3 weeks. Then the person receives a printed document in his hands, which reflects all the studied parameters. Medical consultants explain the results in detail and give recommendations on how to reduce the risks associated with hereditary predispositions to certain diseases.
In any case, the results of a genetic test are your insurance for the future. You should always have it on hand, especially if the need arises.
consult a doctor or go to a clinic.

Ten years ago, in 2006, Ann Wojcicki created the company 23andMe, which offered everyone a "genetic passport" for $100. It indicated information about the abilities, origin and predisposition to diseases. The company began to grow rapidly, and in many countries, including Russia, similar services began to appear. But in 2013, a U.S. regulator banned 23andMe from conducting DNA tests to detect diseases due to controversial interpretation of the results. In Russia, genetic testing companies do not have such problems, they still promise to provide the patient with all the information about his health and predisposition to diseases. The founder of the Genetico Center for Genetics and Reproductive Medicine Artur Isaev told The Secret what is wrong with such genetic tests.

The modern market for genetic diagnostic services can be divided into three areas: cognitive, medical and entertainment genetics. Cognitive genetics is associated with origin, it is used to identify a person, to determine kinship. Medical genetics includes a wide range of services for identifying genetic reasons hereditary diseases and to prevent their transmission or development, when it is known that the presence of changes in genes with a 100% or very high probability will cause the disease. Everyone remembers the story of Angelina Jolie, who removed her mammary glands to reduce the risk of developing breast cancer. Her chance of getting breast cancer was estimated at 86%.

A person's predisposition to a particular disease is sometimes associated with polymorphisms. These are some changes in the genes that distinguish people from each other. The likelihood that these changes will lead to certain diseases, according to studies, varies and is generally low. The degree of probability with which certain changes in genes will lead to specific diseases is called penetrance. So, the penetrance of some diseases is 80–90%, while others are 30% or less. We know about 6000 diseases with high penetrance. But the relationship of the most common socially significant diseases, such as diabetes, cardiovascular diseases, autoimmune and others, with certain genes and changes in them is not yet obvious and is being discussed. And this is where the conversation about entertaining genetics begins.

What services are provided by 23andMe and similar organizations that offer spit genetic testing? On the one hand, they contain data on the origin, that is, they provide services in cognitive genetics, when it is possible to determine among which ethnic groups some of the genes similar to the genes of the person undergoing the test were distributed. This information is quite accurate, but what does this knowledge give? Here I have, for example, 4% of the genes that are often found in Indians - how should I interpret this?

There is also a part of medical genetics. However, most of the genetic data they provide is polymorphisms, predispositions for which the physician has little reason to interpret. The main problem with 23andMe and other similar services is that the likelihood of most of the genetic changes they consider occurring is not very high.

A number of diseases, including diabetes and cardiovascular diseases, are associated not with one gene, but with a group of genes, so changes in only one of the genes can either seriously affect a person's health or not at all. Researchers still have very little scientific information about exactly how changes in genes are associated with common diseases. After analyzing, for example, 1000 patients with diabetes, the authors of genetic tests found in most of them a common genetic feature, in contrast to the general population, and on this basis they concluded that people with a similar feature are more prone to diabetes. But biologically, it may not be related to diabetes, perhaps this random connection. At the same time, different genetic startups in the world interpret the same polymorphisms in different ways - and if someone has found that a certain feature increases the risks of the disease, someone will say about the same feature that it reduces the risks. This is the same as linking the number of salmon spawning in the Far East to the weather in Africa. The relationship between these factors may be revealed, but whether it will have meaningfulness in reality is another question. Interpreting polymorphisms with high penetrance, like those of Angelina Jolie, is important, but 23andMe has mostly interpreted polymorphisms whose validity and medical interpretation is questionable.

It will take years for doctors to be able to speak with certainty about a person's predisposition to diseases that are associated with several genes - we just have to study this and accumulate knowledge. Due to the fact that the doctor cannot reliably interpret such data, he cannot give the patient specific recommendations. As a result, to reduce the risk of developing diabetes and cardiovascular diseases, the patient is advised what is understandable even without a genetic test: eat less fatty and high-calorie foods, active image life.

The medical community doesn't take recreational genetics seriously. But in general, there is nothing wrong with recreational genetics. What is harmful is to leave a person alone with his analyzes. Why was 23andMe banned from providing its services? Not because they did tests, but because they threw out a huge amount of information, including medical information, on a person who does not understand anything about it, and left him alone with her.

The interpretation of the genetic diagnosis to the patient should be provided by the geneticist, who is responsible for the recommendations. A person cannot make decisions about their health by interpreting the tests themselves. If you ticked off the Internet that you are ready to get information about your genetics, disease propensities and find out what you will die from, this does not mean that you are really ready for this. Having received such information, you can misinterpret it, make the wrong decision and start self-medicating. Colleagues from 23andMe or similar companies can indicate in the analysis whether a person has changes in the gene or not, but they are not allowed to make diagnoses and talk about the level of risk of getting sick, for example, Alzheimer's disease.

In a number of countries, this is strictly regulated: for example, in Germany it is forbidden to advertise such tests, giving the information "you can take the test and find out everything about your health." If you really want to know everything about your health, go to the doctor. 23andMe no longer shows or gives away medical interpretation. They have things related to the origin, and a minimum of things related to the interpretation like "at such and such an age you will have an increased risk of getting sick with such and such."

Modern services that conduct DNA tests are trying to bring the future closer and begin to provide services for which the time has not yet come. Of course, I am sure that medicine will develop in this direction. Basic knowledge about genetics has been accumulated in the last 15-20 years. Medical genetics is not widely used yet. medical practice. According to our data, there are only about 500 geneticists in the Russian Federation. If we have the ability to calculate risks and model the health of future children, many problems can be solved.

Cover photo credit: Charles Thatcher/Getty Images