01 September 2014

Genetic analysis in Russia: a success story

Decoders of the gene puzzle

Elena Nikolaeva, "Expert" No. 36-2014

The genotype of a particular person does not change. Drawing up a genetic passport can reveal possible pathologies even in childhood. Moreover, for such studies, a blood smear or even one spit in a test tube is enough. The Russian company Genotek, founded in 2010 by Moscow State University graduates – mathematicians Artem Elmuratov and Kirill Petrenko and biologist Valery Ilyinsky, was one of the first in the developing Russian "genetic" market. Genotek works not only with individuals, but also with large pharmaceutical companies. In two and a half years from the start of sales, the company has already brought their volume to $ 1 million per year.

The work of geneticistsGenetics has been developing with varying success since the beginning of the last century.

Certain breakthroughs occur here almost every ten years. But the gene puzzle has developed only in our days thanks to the breakthrough of American geneticists, who in the mid-2000s completely deciphered the human genome. The biomaterial is calculated on the computer, the program gives the results to the person. And then the most interesting thing begins – the interpretation of the data. This is a responsibility, a matter of trust, added value and competitiveness of each company, since each of them develops a system of "explanation" for themselves.

Genetic scanning, obtaining a so–called genetic passport is the basis of preventive personalized medicine. With its help, for example, you can learn about hereditary diseases, predisposition to diseases, optimal nutrition, suitable and contraindicated medications, the current state of the body and much more.

In the USA, as follows from a study conducted by the largest startup in the field of gene decoding 23andMe.com (the company of Ann Wojcicki, ex-wife of Google co–founder Sergey Brin), about 3% of the population, which is about 10 million people, have already passed a genetic examination, 90% of those who want to do it.

Genetic screening is indispensable for competent pregnancy planning, taking into account the IVF option. "Let's say the spouses undergo genetic screening. It turns out that, for example, both are carriers of several diseases out of five thousand. They will also find out with what probability the disease can be transmitted to the unborn child. The classic model is 25 percent. Accordingly, when planning a pregnancy, it is worth considering this option. You can, of course, close your eyes and say: let it be as it will be, such a fate ... or you can adopt a child. Change the partner. Or, thanks to the same genetics, choose a healthy embryo," explains Artem Elmuratov.

But this is just the beginning. While there are certain technical difficulties with a full genetic study, in fact, they rest on the timing: the embryo lives for about a day, and a full scan lasts about a month. Alzheimer's disease, Parkinson's disease, Down syndrome, pathologies of the endocrine system (diabetes mellitus), disorders of bone metabolism (osteoporosis), diseases of the gastrointestinal tract, respiratory diseases (asthma), pathologies of the cardiovascular system - children do not necessarily inherit all this.

A vivid example of following the recommendations of geneticists was demonstrated last year by Hollywood actress Angelina Jolie. A genetic test revealed she has a mutation in the BRCA-1 gene and an 87 percent chance of developing breast cancer. Not wanting to live with a time bomb, the favorite of moviegoers decided to remove her breasts.

What is important, these studies are similar to the work of a dynamo machine: the craze of citizens for genetic self-knowledge simultaneously moves forward the entire layer of this science. In the hands of companies, and subsequently scientific institutes, there are, albeit impersonal, but unique databases containing not only information about genotypes, but also disease maps, as well as key external parameters – an invaluable basis for further research.

And what about Russia?The Russian market is still at the point where potential customers need to explain in detail what kind of research it is, why they are needed and that it has long been out of the category of science fiction.

We already have a noticeable loss: not having lived up to the period of mass demand, having made a bunch of marketing mistakes first of all – gigantic investments in non-functioning advertising channels like commercials on television or billboards on the way to the Moscow airport, the startup "Jenex" left the market. However, he became an example of "how not to do", which others learn from. And, of course, there is a price difference: in Russia, the cost of personal genetic research starts from $ 500, in the USA – from a hundred. However, these are again different methods of attracting customers. Americans, for example, conducted research cheaper than cost, creating the very critical mass, which then provided an explosive growth in volumes.

However, there are important features in Russia that greatly help the same "Genotek". "At some point we decided to order a genetic study from the USA and could not do it. It turned out that the export of biomaterial from the country is prohibited," explains Artem. Another unexpected help turned out to be a kind of scientific and organizational misunderstanding. "In Russia, laboratories are more willing to give grants for equipment. There are many sources of money and state programs, but there are also strict requirements for the list. If there is equipment, it is even easier to get a grant, but again for equipment. It turns out a vicious circle. This has led to the fact that the laboratory has equipment, but there is no money left for the work of people who can manage it. And you also need reagents, which are quite expensive. As a result, professionals leave for commercial structures," explains Artem Elmuratov. And finally, against the background of a clear shortage of existing resources, pharmaceutical companies need such research, which mainly outsource these tasks.

Their historyA team of graduates from Moscow State University, HSE, MEPhI and other pillars of science gathered in the "Genotek" – a total of 31 people.

Everyone is under 35 years old. These are molecular biologists, bioinformatics, programmers, mathematicians, doctors, economists. "We decided to make a high-quality online service for decoding the genome – which, for example, is available in America. In Russia, this did not go beyond the laboratories. We realized that it was necessary to produce a result written in a clear language and such that a person could show it to a doctor. That is, to make a high-quality product that is understandable not only to professionals. We started from scratch to develop our own system of interpretation of genetic data, which is, firstly, a database of associations of genes with external signs. Well, for example, we say: these types of genes are associated with such and such a type of cancer, these with diabetes, these with the assimilation of lactose. And we explain which variations have what effect. It took a year – by the end of 2011 we launched the first trial sales," adds Elmuratov.

How it works"To put it simply, we get a biological sample.

We check if everything is fine with him. We isolate DNA. Next is a complex process that can be divided into stages, but globally it is the decoding of the genetic code. As a result, we get a large amount of chaotic data. Then they are aligned according to the pattern of the “reference” person, assembled like a puzzle. After all, people are very similar to each other, there is only one percent difference between us. We build the total 99 percent, and those pieces that differ go together with large pieces and are integrated into a single whole. Then we interpret it all," explains Artem, drawing a sheet of paper.

Diversify your businessIn the Moscow State University Science Park, where the Genoteka team worked, they gave advice: start doing business without investments, first find a client, and only then look for capacities and opportunities for this business.

The first thing Genotek started its business with was a purely b2b direction, custom–made R&D. "It literally started with the fact that we know a laboratory where we need to conduct some kind of research, but there is no possibility. The matter comes to a dead end. They come to us: “Will you help?” – “Of course!” And such studies are hundreds of thousands of rubles. Just a few orders, and we already have funds for the development of any other direction," explains Artem's strategy. The second direction is related, there is a demand for the identification of genetic disorders leading to hereditary diseases in the b2b sphere, where, for example, pharmaceutical companies act as customers and where hundreds of thousands appear in the accounts again; there are also individual studies, the issuance of results for a hundred diseases. The third is already pure b2c with an average check of 25 thousand rubles. The predisposition or contraindications to doing this or that sport, diet, and occupation are also revealed. Currently, the third earnings channel brings a small part of the profit, but this is the basis for future growth. The duration of all studies is one to three months.

CalculatorThe average salary of 31 employees is about 70 thousand rubles.

Accordingly, about 2.3 million rubles are spent on the photo every month. But reagents and consumables eat up the most money. Other items of expenditure – rent of the premises where the laboratory is located; marketing – online advertising, promotions popularizing this area of research, such as lectures and exhibitions, partnership in the organization of awards, cooperation with fitness centers, gift certificates. All this takes about 20% of the turnover, which has now exceeded $ 1 million per year. The average check in the b2c segment is from 20 thousand to 300 thousand rubles, in b2b the price range is from 50 thousand to 3 million rubles. The average margin, depending on the direction, is 60-70%.

Morality as a deterrentBioethics is something that, perhaps, does not yet allow geneticists to go too far.

After abusing the ideas of the same eugenics, the communities of scientists agreed among themselves on some principles. First of all, it is worth noting the ban on the creation of human embryos, that is, cloning itself. Gene transplantation is prohibited. Discrimination based on genetic heritage is prohibited. Intervention in the human genome can only be performed for preventive purposes and should not cause changes in the genome of the heirs of this person. There are still controversial and, apparently, no future discussions about whether to ban research on children under 16, that is, before a person can make a conscious decision about the need to obtain such knowledge.

Portal "Eternal youth" http://vechnayamolodost.ru01.09.2014

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