Why do DNA tests
The opportunity to learn about the risks of diseases, proper nutrition and pass on "healthy genes" to children
The material was prepared with the support of the Genotek Medical and Genetic Center.
45% of Russians experience unpleasant sensations after two glasses of milk, and 47% have a reduced susceptibility to traditional diabetes medications. All this has become known over the past 15 years, and began back in 2003, when the international project was completed The Human Genome Project (Human Genome Project) – within its framework, the human genome was completely decoded.
According to the results of a large-scale study, it turned out that it is in the combination of genes that all information about human health, as well as about its potential diseases, is encrypted. Investments in the project amounted to $3 billion (the main part was taken over by the US government).
The work of scientists and huge research budgets have opened access to genetic analysis for ordinary patients. Today, the cost of genetic tests is about 20 thousand rubles. In addition, a basic analysis (for example, for a tendency to genetic diseases) does not require decoding all parts of the genome. Therefore, the fewer "letters" you need to analyze, the cheaper the test.
The ability to understand how a particular organism works
The genetics market is developing in Russia: Genotek was one of the first players in 2010. The company says that interest in genetic tests is growing, and it is expected that in 10 years more than 10% of the Russian population will do them. Valery Ilyinsky, co-founder and CEO of Genotek, talks about the services and challenges of the industry presented on the market.
From a small number of differences in the genome, a variety of appearance, behavior and functioning of a person is formed. It is necessary to investigate the variants of such differences in order to understand how a particular organism works, where it can "break down".
Knowledge of possible problems can help our patients prevent diseases and improve the quality of life. People are becoming more interested in health and are undergoing genetic testing.
DNA tests are used all over the world not only for medical purposes. In Russia, as in the USA, one of the most popular tests is genealogy. People of all age groups are interested in their origin. The interest in family roots is understandable – Russia, like the USA, is a country of migrants: only here it is internal migration.
Genotek has learned to determine from a DNA test what proportion of the genome a person inherited from his ancestors from different peoples of Russia. For example, the genetic intolerance of milk or alcohol can vary greatly between Finns and Buryats – now these differences can be digitized and find out the percentage of genes inherited from a particular population.
DNA affects the digestibility of not only milk and alcohol, but also other foods, vitamins and even the effectiveness of medicines. For example, lactose intolerance is caused by a mutation of the MCM6 gene. It's the same with the body mass index: there are many genetic variants that show whether a person is inclined to be overweight or not.
According to modern research, for 80% of drugs that are sold in pharmacies in Russia, the relationship of their effectiveness with genetics is known. There are certain markers that show that some medications are ineffective or cause side effects. Based on these markers, we can calculate which medications will be more effective for treatment, and which may cause dangerous side effects.
Among such drugs are aspirin, warfarin, oral contraceptives, antidepressants and others.
If in the case of eating behavior and medications we are talking about the probability of the manifestation of a sign, then hereditary diseases depend on genetics by 100%.
If there is a certain mutation in the gene, a person will get sick. The only question is at what age it will happen. There are diseases that manifest themselves in childhood (deafness, cystic fibrosis) and there are – in adulthood (polycystic kidney disease).
Parents often order their children a test that determines their predisposition to certain sports. It is closer to entertainment genetics: it shows personality traits and predispositions to sports. That is, things that depend not only on genetics, but also on external factors, for example, how a person trains, whether he goes to sports school. During the analysis, the child's genome is compared, among other things, with the genomes of champions in various sports.
How the process works
On average, the test takes a month and a half. Genetic material for DNA analysis is taken from blood cells or saliva. This does not affect the accuracy of the test. The process of DNA extraction in the laboratory is fully automated – it is performed by a robot, which eliminates error.
We perform DNA analysis on the HiScan device of the American company Illumina (one of the main players in the global market of genetic tests). The device costs about half a million dollars. Genotek is the only laboratory in Russia where it exists.
In the personal account, the client receives data on a set of mutations, as well as their interpretation and recommendations of specialists.
Interpretation of genetic tests is carried out automatically – hundreds of thousands of variants in DNA are found in each person. It is possible to assess their impact on health only with the help of artificial intelligence, but not manually.
The interpretation of genetic features found in DNA is the task of bioinformatics. All global companies strictly protect their algorithms and databases. Bioinformatics and Genotek doctors have their own algorithms. They allow you to calculate the probability of getting sick with any disease, depending on the identified mutations and the lifestyle of a person. The peculiarities of Russian genetics and medicine are also taken into account.
What to do with the results of the DNA test
According to Genotek statistics, usually a person has an increased probability of 15-20 diseases (out of 150) – it is worth paying attention to them during examinations and prevention. The probability of the disease, for example, 87% means that out of 100 people with the same genetics and the same external factors (age, gender, lifestyle), 87 people would develop the disease during their lifetime, and 13 would not.
The detected genetic predisposition is not a verdict. In the USA and the European Union, there are already standard recommendations for the medical prevention of many diseases. For example, according to the recommendations of the European Society of Medical Oncologists (ESMO), people with mutations in the BRCA1 and BRCA2 genes are recommended to have breast MRI every year from the age of 25, take medications that prevent the development of cancer, and after the birth of children – consider preventive mastectomy (removal of mammary glands).
Breast cancer detected at the first stage can be cured with an efficiency of more than 95%, but already at the third stage the effectiveness of therapy is only 50%, so it is important to detect the disease as early as possible.
What DNA tests exist and how are they useful
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"Health and longevity" – it is possible to assess the risks of 150 diseases, including cancer, cardiovascular and others.
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"Genealogy" – helps to find out where a person's ancestors came from, to expand the idea of family history.
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"Diet and fitness" – recommendations on nutrition and lifestyle.
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"Child planning" – gives a picture of the genetic risks of a child during pregnancy planning.
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"Talents and Sports" – awareness of sports inclinations and talents.
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"Drug effectiveness" – helps to evaluate the effectiveness of drugs.
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