Genetic tests in Russia

Players, issues and trends

Lyudmila Kudryavtseva, Rusbase

Over the past decade, methods of genetic analysis, approaches of medical genetics and genomics have become much clearer and more accessible to the mass consumer. Medical clinics and startups offer services based on genetic analysis, and this market is also growing and developing in Russia. 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 of services related to genetic analysis.

Terms

• Genetics – studies the mechanisms of heredity and variability, the transmission of traits between living organisms.
• Genomics studies the genetic structure of a single organism.
• A genome is a set of hereditary information according to which an organism develops.
• Medical genetics deals with mutations and other factors responsible for hereditary diseases. Studies the patterns of transmission of hereditary diseases, develops methods of diagnosis, treatment and prevention of the development of such diseases.
• Medical genomics studies 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 the present day. But it has been brought to a rather substantial general picture of the structure of the human genome and the role of nucleotides in it, their sites 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, rather than search through the entire set of hereditary information. It has become possible to link many signs and pathologies with specific genes, which allows you to narrow the scope of research and simplify its methodology. 

Thanks to these opportunities, personal genomics began to develop – as a science and as a field of services, a niche for businesses and startups. It is a branch of genomics related to the sequencing and analysis of the human genome. 

It should be noted that specialists in medical genomics and genetics do not separate hereditary and non-hereditary diseases. Any pathology, including even trauma, arise and develop only due to the presence and severity of certain predispositions, which are set genetically and formed using the mechanisms of heredity.

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

1. Predictive medicine, that is, the identification of predispositions to certain conditions and diseases based on gene analysis. Two directions of such analysis are most common: the search for genetic markers and the genome-wide search for associations. Genetic markers are proteins that signal the statistical (most often) connection of a certain gene sequence with a certain disease. Genome–wide associations are connections between gene sequences and phenotypic traits (external and internal properties of an organism acquired by it during development).Oncogenetics occupies a separate place, in particular, the analysis of changes in the genetic and chromosomal apparatus of malignant cells, which helps to identify cancer cells at the earliest stage of its development, while cytology and pathanatomy methods do not record any changes.

2. Pharmacogenetics – selection of drugs based on genetic characteristics. Prediction of the effect of the drug on the body, allergies. Creating safer and more effective drugs.

3. Family planning – testing the compatibility of spouses, searching for biochemical markers of pathological conditions dangerous during pregnancy, markers signaling 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 signaling the likelihood of genetic or chromosomal abnormalities in the fetus.

4. Research of personal genetic history – ethnicity, origin, pedigree. Genetic examination of paternity, motherhood and other types of family ties.

5. Professional orientation of children – identification of predisposition to various sports, genres of art or other fields 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 of services and products.

The analysis of ethnic origin is performed by searching the customer's genome for 175 genetic markers specific to one of four historical and 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
• Southeast Group: Philippines, Malaysia, Australia, Oceania
• African group: Sub-Sahara (Nigeria, Congo, etc.)

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

The cost of complete sequencing of the human genome is decreasing from year to year due to the development of technology and computing power, as well as increased competition. This contributes to the development of startups in the field of personal genomics. State regulation on the Russian market does not interfere with such startups yet. It is important for them to balance their activities with the legislation on healthcare and obtain a license to carry out medical activities if certain services fall under this definition. And also comply with the legislation governing the work with personal data.

The vast majority of companies providing personal genomics services, even if they have a medical license, prescribe in their license agreement and rules for the provision of services that the result of the provision of these services is not a medical opinion 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 for cognitive, educational or entertainment purposes. This makes it possible not to fall under the regulation of medical services and reflects the actual state of things: the results of genetic analysis should be interpreted by doctors specializing in specific pathologies.

Companies working or planning to work in the direction of personal genomics should follow the process of lawmaking by Russian regulators, as they can 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 of personal genomics services to assess the volumes, risks and prospects of this market.

Valery Ilyinsky, CEO of Genotek

The market segment for the diagnosis of rare hereditary diseases is about 200 million rubles per year. The segment of tests for predisposition to multifactorial diseases – personal genetics – about 100 million rubles. 

Growth rate: about 20-30% per year.

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

The most popular are services related to the prevention of diseases (health and longevity), personal fitness, nutrition taking into account genetic characteristics and predispositions to injury. 

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 techniques.

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 of the genetic tests are banned, the other has actually prohibitive barriers to the creation of laboratories.

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

At the moment, of the Russian companies, only Genotek has 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. 

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 – up to $ 60 million. In Russia, a comprehensive genetic study was conducted by about 20 thousand people, which indicates an early stage of the emergence of the market. There is a segmentation in the following areas: prenatal diagnostics, oncogenetics, pharmacogenetics, consumer genetics. Large companies have not had time to grow yet, and everyone has a chance to "shoot". 

Bursts of information events also play a significant role in spreading interest in genetic testing. An example is the story of Angelina Jolie, who removed her mammary glands. Genetic testing showed that she has a mutation in the BRCA1 gene, which significantly increases the risk of developing breast and ovarian cancer.

The most popular now are diagnostic services and research of the status of the carrier of hereditary diseases. Noninvasive prenatal DNA diagnostic services for hereditary diseases are gaining popularity.

There is a growing demand for comprehensive screening genetic tests that allow assessing predispositions to the development of multifactorial diseases, the status of hereditary diseases, individual sensitivity to drugs, ethnic origin and much more. 

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

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

Vladimir Volobuev, Managing Director and Co-Founder of MyGenetics

MyGenetics operates in the direct-to-consumer segment of DNA tests (when a person receives and uses the results of DNA research independently, without contacting third-party specialists). According to our calculations, the volume of this segment is currently 300-400 million rubles in Russia, the annual market growth is 20-25%.

In our segment, services are gaining more and more popularity, for which a person sees specific recommendations and advice. 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. They were mostly driven by curiosity. Now the bulk of our clients are ordinary people, housewives, workers, employees, pensioners who use the possibilities of genetic research for their quite mundane tasks: to lose 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's time to move to new ones. Any information occasion can cause a rush demand for a particular service. So, most recently, Momondo held a campaign "Journey in the footsteps of DNA", raising a wave of interest in genetic research on genealogy.

Genetic research on the topic of anti-age is very promising. The world's population is aging and is still unsuccessfully looking for an anti-aging pill. The current level of development of biotechnologies and genetics allows us to hope for serious breakthroughs in this direction in the near future.

The main deterrent to 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 accessibility. Many people think that genetics is a purely scientific discipline, without applied meaning. Knowledge about what opportunities genetics provides in terms of personalized medicine is almost absent from the medical staff. We face this all the time. We have to train specialists from different regions with our own efforts and 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 light of their potential volume, but at the same time they are more mature and already have their own established structure and rules of the game. This is both a minus and a plus. In the USA, I presented the MyGenetics project to the scientific and business community. Scientists were not surprised by anything there, but entrepreneurs were 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 USA, healthy eating is an established trend. And the niche of our company – nutrigenetics, "nutrition by genes", clearly fits into this trend. Therefore, it is a very tempting prospect to try yourself in the US market, but we understand that this will require significant resources. So currently we are focused on the market of Russia and neighboring countries. Although we are already actively negotiating with our partner about our representation in Europe. We hope that the first sales from Europe will start this fall

Companies known in the Russian market

B2C

"Atlas". Self-presentation: "The first group of companies in Russia implementing the concept of personal medicine." The genetic test reveals the risks of diseases, the probability of carrying hereditary pathologies, the characteristics of the reaction to drugs, ethnic origin, sports predispositions. According to the results of the test, a doctor's consultation is conducted, recommendations are offered for the prevention of diseases, taking medications, and lifestyle adjustments. A separate service is oncodiagnostics. 
The company appeared in 2013, in 2015 revenue amounted to 150 million rubles, and in the first quarter of 2016 – 50 million rubles. The cost of a genetic test is 29900 rubles.

Genotek. In the field of personal genetics, 5 tests are offered – "Health and longevity", "Child Planning", "Diet and Fitness", "Talents and Sports", "Genealogy". All five tests cost 26,990– 30,950 rubles, one test - 14,990 rubles. Full genome sequencing – 425,000 rubles.

"Genoanalytics", the service "My gene". One of the pioneers of the market, appeared in 2009. Diagnosis of predisposition to diseases, reaction to medications, recommendations on sports, lifestyle, diet. An ethnic origin test is being prepared for launch. In 2015, the revenue of the company "Genoanalytika" amounted to $ 1.1 million. Half of this amount is accounted for by genetic tests "My gene". 

"Sports genetics". The company specializes in the interpretation of genetic data for sports and fitness. The user can send his genetic data in a file via the website – this data will be processed by an algorithm, then they will be checked by professional geneticists and sports methodologists. At the output, the user receives a report on which sports and physical activities are best suited for him. The cost of such an interpretation in Russia is 4900 rubles.
The company appeared in 2014. According to the founder of "Sports Genetics" Ivan Kutz, in 2015 the company's revenue amounted to 1.5 million rubles, and in the first quarter of 2016 – 1.2 million rubles. The founders plan to introduce machine learning into their developments.

Genetico. Specializes in family planning, prenatal diagnosis, genetic diagnosis of fertility. Also conducts a test for genetic diseases, origin. Preparation for pregnancy – from 12 to 55 thousand rubles, tests for individual genetic diseases – from 2 to 9 thousand rubles.

MyGenetics. "Personal nutrition and fitness plan based on DNA analysis". Specializes in the analysis of genetic factors related to nutrition. Including reactions to foods and environmental factors and features of eating behavior. Helps to choose a diet, accompanied by recommendations on physical activity, lifestyle changes. In November 2015, monthly revenue was up to 1.2 million rubles.

Oftalmic. Genetic diagnosis of eye diseases. The price of diagnostics is from $300 to $3000 dollars. According to SPARK at the beginning of 2016, the annual profit of Oftalmic is several hundred thousand rubles.

The founder of Genetico, Artur Isaev, believes that most genetic testing products fall into the category of "entertainment genetics". Firstly, most of the data describes predispositions for which there are no sufficient grounds for practical interpretation by a doctor. The probability of most of the genetic changes considered by the test is low.

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 human health or not at all. Researchers still have very little scientific information about how exactly changes in genes are associated with common diseases.

At the same time, different genetic startups in the world interpret the same polymorphisms differently - and if someone has revealed that a certain feature increases the risks of the disease, someone will say about the same feature that it reduces the risks

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

Our companies have good prospects of entering foreign markets. Genetic tests in the USA and Europe became known much earlier, but the problems of high-quality packaging of these services into a consumer product 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

Franchise "My Gene." The cost of opening your own DNA testing center is 800 thousand rubles. The opportunity to earn up to 3 million rubles is declared for the first year.

OncoFinder. Selection of optimal therapy for cancer tumors based on the study of abnormalities in the cancer cell. Solves the problem of suboptimal selection of chemotherapy. Among the products are both a package of recommendations based on the results of a 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 claim to have attracted more than $1 million in investments, and the products are sold to 15 Russian and 10 foreign clinics and laboratories.

RosGenDiagnostics. Develops an automated service for gene diagnostics and selection of optimal treatment for cancer patients. It focuses primarily on the European and US markets. The project is at the stage of small clinical trials, supported by the Skolkovo Foundation, claims to receive investments from various sources in the amount of more than $ 500 thousand. 

UGENE, a project of the company "Unipro". Free software for molecular biological research. Allows you to work with genome sequencing data, analyze proteins, visualize processes in DNA and RNA. A commercial license costs 40 thousand rubles a year, paying users are now less than 5%.

Biobanks

For research and work with the results of genetic analyses, their data needs to be stored somewhere, and today there is an active process of accumulation and storage of genomic information in large databases - biobanks in the world. The creation of such repositories is primarily due to the need for medical research and the diagnosis of deadly diseases that require an increase in the scale of the data being studied. For the most accurate comparative indications, scientists and/or medical specialists need the largest possible database of DNA samples. 

This B2B niche in genetic medicine is poorly developed in Russia: so far, biobanks are created only by individual scientists and small companies for specific, and sometimes only short-term needs. Whereas in many countries, bioinformatics banks first become national-scale projects, and then are transformed into a system-forming format for world science. For example, the largest of them: 

"3 Million Genomes" (3-Million Genomes Project), China

Within the framework of the project, it is planned to collect and decode the genomes of one million people, the genome of one million bacteria necessary for the vital activity of the human body (microbiota), as well as the genome of a million plants and animals. 

$215 million in 2016 – for genome research, USA

In the United States, the government proposes to spend $215 million in 2016 on the development of personal medicine, and for this it is planned to decode the DNA of one million volunteers. Another $130 million is planned to be invested in a project of the National Institutes of Health to determine how the genes of volunteers, lifestyle and environment affect their health, and $70 million – to research the mechanisms of cancer development. 

GHC (The German National Cohort), Germany 

Within the framework of the project, more than 100 thousand men and 100 thousand women will undergo a voluntary questionnaire every five years, the delivery of biomaterials and health information. 

UK Biobank, United Kingdom

The project was launched with the support of the private and public sector. One of the very first banks of genetic information, which collected data of 500 thousand people for the period from 2006 to 2010. Currently, work is underway to create an online platform that will allow scientists to work effectively with genetic data.

The 100,000 Genomes Project (Genome 10K Project), UK 

The creators of the project focused on the research of oncological and rare genetic diseases, in parallel with the accumulation of data, research is being actively conducted, which already gives the first results.

200 biobanks of the Netherlands 

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

So biobank data doubles in volume approximately every 7 months. Every year, DNA decoding laboratories generate several petabytes of sequenced data per year (1 terabyte contains about 1 trillion DNA subunits). 

The importance of the development of genetic 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 data exchange between participants, as well as other banks. Solving these problems will help the doctor and researcher quickly and easily find potentially valuable information for treatment. This is the only way biobanks can 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 colleagues' assessments, we see that the market for personal genomics services is growing. If you look at the amount of data that is beginning to arise in it, then molecular data can be put in one of the first places among all data sources that exist now. And the niche of genetic analysis is only a small part of it. In the near future, genomics will produce several zettabytes of data per year. 

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

At the same time, it is not the giant arrays of information obtained as a result of DNA or RNA sequencing that are of value to the doctor, but only the results of their complex mathematical processing, as well as comparisons with similar data of other patients obtained by researchers and doctors around the world. 

Therefore, the new medicine seriously depends on the progress made in the field of information technology. It can even be said 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, the results of tests, etc.). This is how a completely new industry is already being formed – this is the industry of biological and medical information technologies (BioIT). 

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

The system will help medical specialists of various levels: 

• it will speed up the work of doctors who are still independently searching for information in numerous sources;
• it will create the necessary infrastructure for clinics. As a result, clinics will have the opportunity to collect accumulated knowledge, conveniently staff and effectively navigate them, using only a laptop. 

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

Portal "Eternal youth" http://vechnayamolodost.ru  06.09.2016