Test for genetic diseases. Genetic tests in Russia. Lactose intolerance test

Genetic tests detect signs of a disease or disorder in or obtained from human blood, other body fluids such as saliva, or tissues.

These tests may look for significant disorders, such as the presence or absence of a particular part of a gene. Also, with their help, small changes are found (), for example, such as the absence, excess, or altered structure of the chemical bases (subunits) of the DNA chain. A genetic test can also show which genes have many copies, which ones are overactive, underactive, and which are turned off altogether.

That is, genetic testing makes it possible to study various aspects human DNA with various methods. For some tests use DNA probes . A probe is a short piece of DNA whose sequence is complementary to (ie, capable of binding to) the sequence of the altered gene. These DNA probes usually have fluorescent labels on them. During testing, the probe "looks" for itself additions to the (corresponding complementary site). If an altered gene is found, then the DNA probe is connected to it. Fluorescent labels in this case indicate the presence of genetic changes and are detected using a microscopic fluorescent method.

Another type of genetic testing is based on DNA or RNA sequences. This test compares the base sequence of DNA or RNA in material obtained from a patient with standard DNA or RNA sequences.

"Genes are to blame for everything!" - today this phrase is as relevant as it was 100 and 500 years ago. human health and appearance 60% are determined by the genetic material that his parents awarded him.

From the way of life, the nature of nutrition and bad habits depends on 40% health. As for medicine, it actually accounts for only 5% of health! Thus, it is genes that in most cases determine whether a person will suffer from a heart attack and hypertension.

Genetic tests allow you to understand the heredity of a person and find out how high his risk of developing a particular disease is. But do you really need genetic testing? Let's see, because the price of the issue is sometimes tens, and even hundreds of thousands of rubles.

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Full Genetic Testing Program

The main goal pursued by people who take genetic tests is to find out how high the risk of developing a particular disease is.

The idea is very good, because in this case there is a chance to “deceive nature” and prevent the onset of the disease. After all, as already mentioned, 40% of health depends on factors that everyone can change.

Demand creates supply. Modern laboratory clinics and centers offer huge lists of different ones, in which everyone can choose the most suitable one for themselves.

For those who do not know what exactly they want to find out, but they really want to pass such an analysis, there are options for a complete genetic testing.

The cost of a complete genetic examination

The only problem is the price. In one of the leading medical networks specializing in laboratory tests, such a study costs about 83 thousand rubles for men, 72 thousand for women.

Genetic blood tests are also done for children. The cost will be the same as for adults (for a boy - as a man, and for a girl - as a woman). For most Russians, this amount is simply fantastic. Let's see if it's worth it.

What risks does a complete genetic examination reveal?

In the list of genetic tests within complete examination includes an assessment of polymorphism of several dozen different genes.

Full genetic testing can identify the risk of developing the following diseases:

thrombosis
heart attack and
alcoholism and drug addiction
infertility
and Gilbert
obesity
lactase deficiency
rare genetic anomalies (the list varies in different laboratories)

After analysis, the result is evaluated by a geneticist. The doctor makes a decisive conclusion, which is then received by the patient.

What will happen next? Most likely, a sheet with a complete genetic analysis will gather dust on the shelf until it gets lost. The only thing that can be done based on the results of the test is to pay attention to the lifestyle, accustom yourself to proper nutrition, physical activity, and quit all bad habits.

However, to lead healthy lifestyle life is possible without expensive genetic tests.

Abbreviated Genetic Screening Programs

In addition to a full genetic examination, laboratories also offer reduced options, including an assessment of the polymorphism of individual genes.

The price of such an analysis depends on the number of genetic polymorphisms being studied. For example, a survey called “I am healthy”, which is offered by one large laboratory, costs 40 thousand rubles. It includes risk assessment, atherosclerosis, drug and alcohol addiction, infertility, oncology and Gilbert's disease.

When are genetic tests useful?

Thromboembolism test

Analysis is needed for patients who are to surgery. Knowing the risks, the surgeon and anesthesiologist will advise the patient on how to reduce the risk of thrombosis and prescribe appropriate preventive therapy.

Male infertility test

If a man is genetically infertile, his wife will be able to stop the futile (and rather expensive) search for the reason why the desired pregnancy does not occur. Instead, spouses will be able to consider alternative options for conception - for example, IVF using donor sperm.

Oral contraceptive risk test

The risk of thrombosis when taking oral contraceptives(in the presence of a positive test result) - a reason for choosing another method of protection against unwanted pregnancy.

Lactose intolerance test

Genetically determined intolerance to milk and dairy products is a reason to finally say goodbye to dairy products and live happily ever after.

Addiction test

A study on the presence of a hereditary predisposition to alcoholism and drug addiction will give a person the motivation to quit once and for all bad habits. Or not even try, if he had no such experience.

Blood clotting test

The study of the hemostasis system is useful for women with recurrent miscarriage and miscarriages on early dates. Positive result- a reason for prescribing drugs for blood thinning, which will allow you to successfully give birth to a healthy baby.

Drug intolerance test

Genetic tests that determine the characteristics of the metabolism of certain drugs (isoniazid, warfarin, clopidogrel, methotrexate, statins, aspirin, losartan and many others) allow the doctor to choose the most effective dose drug, or timely change the medicine.

Diabetes and obesity risk test

A high risk of type 2 diabetes and obesity is the best motivator to switch to proper nutrition and play sports.

In addition to these tests, there are many genetic tests that really help both doctors and patients. However, there are diseases that are almost impossible to prevent.

Crohn's, type 1, oncological ailments - these diseases often develop against the background of complete well-being, even among those people who carefully monitor their health. A reasonable question arises - why does the patient need such information?

When are genetic tests harmful?

Imagine for a moment what the life of a person who finds out that he has a high risk of cancer will end? After all, the analysis shows the presence of a recessive, that is, not a leading, but a suppressed gene. At the same time, it is not at all necessary that this person will someday get cancer. But medical experience shows: if the result is positive, then the patient will certainly believe that this will happen to him.

There is a great chance that the patient will listen to every signal of his body, undergo endless examinations, take tests, visit various doctors weekly. And, in the end, he can really get cancer, because psychosomatics plays a huge impact on human health. Doctors call this condition the term “carcinophobia”.

AT medical literature cases are described when some residents of European countries, having received a genetic analysis indicating possible risk development of breast cancer, this organ was removed in advance.

In this case, a reasonable question arises: does a person need to know about this in advance, because he cannot do anything about it? Each of you must answer this question for yourself before you go to take this analysis. Reviews of genetic tests are contradictory precisely because they should not be done “at random” and not out of idle curiosity.

It is optimal that a doctor send a patient for such a study, who pursues specific goals - to choose the optimal medical tactics taking into account hereditary risk. Ideally, the result should also be evaluated by a geneticist to make it as informative as possible, and not a waste of money.

In the Medical Note app, you can ask medical concierge, in which nearest laboratory you can take a particular genetic test and how much it costs.

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.

Terms

Genetics - studies the mechanisms of heredity and variability, the transfer of traits between living organisms.
Genomics is the study of the genetic makeup of an individual organism.
The genome is a collection of hereditary information according to which an 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 genomes pathogenic organism 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 enough 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 of genetic analysis methods 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 - the 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, searching 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. Personal research genetic history- ethnicity, origin, pedigree. Genetic examination for paternity, motherhood and other types of family ties.

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

Ethnic origin analysis is performed by searching in 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.)

By markers, the percentage of the customer's ancestors from a particular region is determined. In other words, the result of the analysis shows the ratio of historical-population groups in the customer's genome.

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 avoids falling under the regulation of 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.

Valery Ilyinsky, General Director of Genotek

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 growth problems: 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 for 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 for Russia. The markets of Brazil, Mexico, Iran and a number of European countries – Austria and Lithuania look the most interesting for us.

Sergey Musienko, CEO of Atlas Biomedical Holding

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 to assess predisposition to the development of multifactorial diseases, the status of the carrier of hereditary diseases, individual sensitivity to drugs, ethnic origin, and much 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 broad list 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.

Vladimir Volobuev, Managing Director and Co-Founder of MyGenetics

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 our main clientele is ordinary people, housewives, workers, employees, pensioners who use the possibilities of 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 active development of our (direct-to-consumer) segment is the low awareness of society, the population about modern possibilities 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 already have their own 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 USA healthy eating- an 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.

Companies known in the Russian market

As part of the project, it is planned to collect and decipher the genomes of one million people, the genome of one million bacteria necessary for life human body(microbiota), as well as the genome of a million plants and animals.

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 implement them 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.

Leonid Levkovich-Maslyuk, CEO of the EMC Research and Development Center for Cloud Technologies and Big Data at Skolkovo:

Thanks to the assessments of colleagues, we see that the market for personal genomics services is growing. If you look at the volume of data that is starting to emerge in it, then molecular data can be put in one of the first places among all the sources of data that exist now. And niche genetic analyzes- this is only a small part of it. In the near future, genomics will produce several zettabytes of data per year.

And the main task is the right way interpret these data for scientific and medical purposes, use them to treat patients. And for this it is necessary not only to collect genomic information, it is also necessary to provide conditions for the data to be stored, actively used, so that they can be easily and quickly processed, and organize convenient access for doctors and scientists.

At the same time, not the gigantic arrays of information obtained as a result of DNA or RNA sequencing are of value to the doctor, 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.

That's why new medicine seriously depends on the progress made in the field of information technology. One can even say that now 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.). This is how 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 help medical professionals most different levels:

speed up the work of doctors who are still independently looking for information in numerous sources;

will create the necessary infrastructure for clinics. As a result, clinics will be able to collect accumulated knowledge, conveniently staff and effectively navigate them using only a laptop.

The project has already received positive reviews at the exhibition-conference in the field of information technology, bioinformatics and genomic medicine BioIT World. In parallel, a pilot project was launched in a large American clinic, which will allow you to check the operation of the system in the application to clinical practice.

Genetic testing in Russia: players, problems and trends

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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 it has been brought to a fairly meaningful general picture of the 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 enough 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.

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 specific gene sequence with a specific disease. Genome-wide associations are links between gene sequences and phenotypic features (external and internal properties of an organism acquired by it during development). Oncogenetics stands in a separate place, in particular, analysis of changes in the genetic and chromosomal apparatus of malignant cells, which helps to identify cancer cells on the earliest stage of 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 of pathological conditions that are 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 sports, genres of art or other areas of activity. In criminology, attempts are also being made to link the propensity to certain types of crimes with genetic characteristics, but these studies have not yet entered the market for services and products.

Ethnic origin analysis is performed by searching in 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 in the Russian market does not interfere with such startups yet. It is important for them to commensurate their activities with the legislation on health care and to 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.

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 for disease prevention. That is, the results of a genetic test can only be used by the most qualified specialists.

At the moment, among Russian companies, only Genotek has entered foreign markets - 15 countries, except for 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 size in Russia - up to $60 million. In Russia, about 20,000 people conducted a comprehensive genetic study, which indicates an early stage of market emergence. There is a segmentation in the following areas: prenatal diagnostics, 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 breast and ovarian cancer.

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 to assess predisposition to the development of multifactorial diseases, the status of the carrier of hereditary diseases, individual sensitivity to drugs, ethnic origin, and much 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 a service for complex 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 are ordinary people, housewives, workers, employees, pensioners who use the possibilities of genetic research for their quite mundane tasks: lose weight, get rid of digestive problems, improve sports performance, reduce the risk of developing certain or other 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 already have their own 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 research in the format of a glossy magazine, where information about the genetic characteristics of nutrition and physical activity is conveyed in simple language. 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 into a practical field, consultations of specialized doctors are needed, additional tests, advice from professional experts on nutrition and other aspects of lifestyle.

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 optimal therapy cancerous tumors based on the study of anomalies in 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.

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 only a small part of this volume. Already in the next decade, genomics is estimated to be producing zettabytes of data per year.

The main task it becomes correct to interpret these data for scientific and medical purposes, to use them for the treatment of 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

Genetics is the most important and very complex science that studies heredity and its patterns. This scientific direction is developing at a rapid pace and provides great opportunities. modern humanity. For example, today anyone can conduct a genetic test. Find out what it is and why you need it.

What is a genetic test?

A genetic test or analysis is a modern and relatively “young” research method that allows you to get accurate and detailed information about your body. Moreover, the extended test covers many aspects, such as hereditary diseases and genetic predispositions to them. individual characteristics, taste preferences and habits, temperament and even some abilities.

What is it needed for?

Why do a genetic test? This question is relevant, because genetics has not yet reached a level of development at which it would become accessible and more understandable. ordinary people. And therefore, many do not understand why such analyzes are made. In fact, there are many indications for their implementation, because such a science affects many aspects of the body's work, as well as most of its functions. Below are the main directions.

Identification

For the purpose of identification, genetic tests have been carried out for a long time, and for many they have helped to learn a lot about themselves and their immediate family.

Firstly, with the help of such a study, it is possible to establish a person if it is impossible to do this in other ways. Often the method is used in forensics, for example, when the identification of the body or remains by any signs is not possible.
Secondly, genetic analysis allows you to establish kinship - to determine the biological father or other family member. Relatives have DNA common features who can accurately determine that there is a blood connection between certain people, and sometimes this is necessary and important, and in the most different situations, among which are such as the definition of legal heirs.
Thirdly, DNA analysis will help to find out your origin. Of course, you can make assumptions based on some features of appearance, but they can be deceptive and blurry. Genetic test is accurate scientific method, providing the opportunity to obtain extended information. So, it will allow you to find out where you come from, who your distant relatives what race you belong to and much more. And it's very interesting!

Pregnancy planning

Recently, genetic tests have begun to be actively used in pregnancy planning, and they allow avoiding serious consequences and learn a lot about your child even before his birth or even before conception. It becomes possible to assess the compatibility of a man and a woman, to identify in advance the risks of developing certain diseases.

A genetic test is prescribed for a future mother or a woman planning a pregnancy in the following cases:

over thirty-five years of age;
previous pregnancies and births that ended tragically or unsuccessfully, for example, stillborn or having birth defects children, miscarriages;
the presence of future parents of any diseases that are inherited;
impact negative factors during pregnancy or in the period preceding conception (drug use, radiation or chemical therapy, alcoholism, radiation exposure, frequent X-ray examinations, taking toxic medications);
transferred during gestation acute infections which include rubella, influenza, toxoplasmosis;
risks identified by other research methods, such as ultrasound.

Genetic tests are done in several ways, including pregnancy blood tests, amniocentesis (examination of amniotic fluid), cordocentesis (study cord blood), chorion biopsy.

Learn more about yourself and your body

Surprisingly, a genetic test will allow you to get to know yourself better and even reveal some of the secrets and secrets of your body. So, advanced analysis can reveal:

Predisposition to certain diseases. Their list includes diabetes, systemic lupus erythematosus, certain types of cancer, myocardial infarction, osteoporosis, hypertension, certain diseases thyroid gland and bodies gastrointestinal tract, bronchopulmonary pathologies.
Susceptibility to different types viruses will allow you to assess the risks of infection dangerous infections and take timely preventive measures.
Individual features of appearance, for example, a large number of moles, density and color of hair, complexion and predisposition to fullness.
Sensitivity to certain components medicines. Yes, it can also be analyzed using an extended genetic test. And this will allow you to find out which drugs in your case will be really effective and safe, and which ones should not be taken.
Features of nutrition, eating habits and addictions. The test can reveal the reasons for your craving or, on the contrary, aversion to certain products, intolerance certain types food, the benefits of different food components and much more. Research is sometimes assigned for the purpose of compiling detailed plan nutrition or dieting.
Physical activity. Analysis will determine your endurance, most suitable species loads, as well as the features of the work of certain body systems under conditions of increased stress.
Personal qualities and even abilities: memory, temperament, hearing.

How is it done?

Various tissues are used for genetic analysis. biological fluids human, for example, particles of mucous membranes, nails, saliva, hair, blood, semen, amniotic fluid, embryonic cells and chorionic villi.

As for the study itself, its duration depends on the purpose of the test. Thus, a paternity test will be ready in about two weeks (it is possible to reduce the time to a week). And if you want to find out all the information about yourself, then such a study can take about 3-4 weeks. Also, the terms depend on the specific laboratory and the quality of the equipment used.

If you are interested in a genetic test, find out where it can be done.