DNA testing in Russia
Prospects and opportunities
Ramil Valeev, RIA AMI
In recent years, genetic testing has become increasingly popular in the healthcare market. With the help of DNA screening, it is possible to identify both existing diseases and those that may develop due to genetic predisposition. But in Russia, the state does not help to develop this direction in any way.
Genetic Testing Market
The genetic testing market can be divided into several segments. The most common of them are: tests for the carriage of a certain gene, diagnostic testing, newborn screening, pre-symptomatic and prenatal testing. Of all the above, newborn screening accounts for the largest market share.
The global genetic testing market reached $3.8 billion in 2015 and is estimated to grow to $4.23 billion in 2016. With a cumulative annual growth of 9.7%, it is projected that by 2021 the total volume of the global market for genetic tests could reach $6.7-7.4 billion.
In 2015, European countries occupied the main share of the genetic testing market – they accounted for 17.1% of global demand for such services, mainly in Western European countries (10.5%). The North American genetic testing market is slightly smaller, which in 2015 occupied 15.8% of the global market.
As for Russia, in 2013, the volume of the DNA testing market did not exceed 1 billion rubles. It was predicted that by 2017 it could grow 10 times to 10-20 billion rubles. However, such forecasts were made even before the beginning of perturbations in the foreign exchange market and it is obvious that the real growth of the genetic testing market in Russia will be more modest.
Nevertheless, experts note the trend in 2015 towards an increase in demand for genetic diagnostics services in order to clarify diagnoses. For example, last year one of the private Russian companies was able to increase revenues from services for early detection and prevention of hereditary diseases by more than 2.5 times compared to 2014.
Main directions
In Russia, you can get certain types of medical and genetic diagnostic services.
- Preconceptional screening for the hidden carrier of mutations in genes is carried out for couples planning a child. Such a study will allow future parents to identify their child's predisposition to hereditary diseases. With its help, it is possible to determine the development of severe hereditary diseases to minimize the risk of giving birth to a sick child.
- Preimplantation genetic diagnosis of embryos (PGD) for chromosomal abnormalities and monogenic hereditary diseases can be carried out for couples who plan to conceive a child using in vitro fertilization (IVF), if the risk of developing pathology in the offspring is detected.
- Also, the diagnosis of chromosomal diseases can be carried out in the fetus after pregnancy naturally. It is done in a non-invasive way by the blood of a pregnant woman.
- Neonatal genetic screening can be carried out in newborn children to identify the most common congenital and hereditary diseases.
- In adults, DNA testing will help determine the likelihood of developing various hereditary forms of cancer, for example, a genetic predisposition to breast or ovarian cancer, as well as to the development of socially significant diseases and genetically determined pathological conditions.
Promising direction
Genetic testing has every chance to become a very popular direction in the medical services market, both due to the high accuracy of DNA tests and due to the large number of interested persons.
Natalia Vetrova, head of the medical and genetic service of one of the capital's centers of reproductive medicine, notes that genetic screening is not currently being carried out in Russia. "In Russia, two types of screening are mandatory: prenatal, during pregnancy, and neonatal, after the birth of a child. Both of these screenings are biochemical. But biochemical studies are not as accurate as DNA screenings and give a large percentage of both false positive and false negative results. That is, there are gaps in the diagnosis," says Natalia Vetrova.
For example, the accuracy of genetic diagnosis of chromosomal diseases of the fetus from the blood of a pregnant woman is 99.9%. The accuracy of biochemical studies conducted today (prenatal screening and neonatal screening, introduced since 2006) is much lower. Because of this, the automated calculation of the probability of the presence of a chromosomal pathology leading to a disease such as Down syndrome is confirmed only in 10-30% of pregnant women classified as at risk.
If we consider the potential circle of people interested in such a test, then taking into account the fact that about 2 million children are born in Russia every year, and 10-15% of women in labor are women aged 30-40 years, about 300 thousand expectant mothers have the opportunity to find out with a 99.9% guarantee whether their fetus has chromosomal pathologies.
The popularity of reproductive genetics is growing all over the world. In the USA, the prenatal test is becoming increasingly common and, according to Dmitry Boguslavsky, CEO of one of the largest centers of reproductive medicine in Moscow, market penetration reaches 50%.
(Market penetration is a measure of the extent to which products or advertising have reached individuals in a given geographical area or in a given market – VM.)
At the same time, there is one limiting factor: genetic predisposition does not mean that the disease will certainly develop. There are many factors that influence the development of the disease. Thus, a DNA test, even in the case of a positive result, cannot be considered as a guide to action.
"There are very few situations in which pathology will definitely develop with a high degree of probability. There are significantly more situations in which it can either develop or not develop," Larisa Popovich, Director of the Institute of Health Economics of the National Research University Higher School of Economics, said at the round table "Insurance and Medical Genetics".
But in general, the development of such a direction as genetic screening, in her opinion, is not just useful, but absolutely necessary.
"Targeted drugs that act directly on the cause of the disease are not designed for the entire population. When we buy such drugs and treat everyone in a row within the framework of the Seven Nosologies program, only 60% of the population respond to therapy, and for 40% these drugs are purchased in vain, because these drugs do not work on them. But there is a method of genetic analysis that allows us to say whether these drugs will work in the presence of a certain mutation, or not," Larisa Popovich emphasized. "Therefore, when we talk about spending funds, the small amount of money spent on additional diagnostics leads to a significant gain in general on the formation of a treatment program."
State support
In many countries of the world, population genetic testing programs are carried out with the support of the government. For example, in the USA, the state has taken a number of important initiatives to educate the population and explain the benefits of genetic testing.
For example, the Obamacare healthcare reform, which caused a lot of debate, made it possible to carry out medical genetic diagnostics, prenatal diagnostics and other tests in the United States by 90% at the expense of insurance companies, thanks to which the number of such tests began to grow noticeably, Dmitry Boguslavsky notes. In Israel, the population has the opportunity to undergo DNA screening either using state support or at the expense of insurance companies.
In Russia, the state does not help in any way to develop such a direction as genetic testing. Even the law "On Biomedical Cell Products" adopted in June 2016 after such a long discussion does not regulate the activities of genetic laboratories in any way.
This means that the regulatory framework for the activities of genetic laboratories remains uncertain, which is why, according to Larisa Popovich, it makes sense to think about the law on genetic testing.
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15.07.2016