Genetic testing: journalistic investigation
Lifetime forecast
Mednovosti, Nikita Maksimov (photo from personal archive)
Modern technologies now allow you to completely decode the genome of any person in a few months and 50 thousand dollars and promise that in a few years this amount will reach only a few thousand dollars. This is a huge progress for bioinformatics and genetics, which back in the 90s took 13 years and three billion to decode the first genome. Now, with the acceleration and cheapening of the technology of sequencing complete genomes, personalized medicine, an individual approach to the prevention and treatment of diseases of a particular person based on genetic data about him comes to the fore. In order to assess how informative and useful detailed information about our genes is, the author conducted numerous analyses in leading firms and centers in the USA and Russia and made sure that the forecasts of geneticists are not too specific yet, and the district therapist can give advice to quit smoking and go in for sports.
The simplest analysis that will give you the least frustration and the most pleasure is a genetic analysis of saliva to find out where your distant paternal and maternal ancestors lived. It is possible to trace this path hundreds of thousands of years ago deep into centuries and countries, right up to the ancestors' exit from Africa. And then find yourself in the database of enthusiasts like you from all over the world and start a correspondence with them to find out if they are your relatives.
Now anyone can do genogeographic analyses for $ 100-300. It is better, of course, to use large firms, for example, Family tree DNA 23andme), which have large databases, but it may be difficult to send saliva samples abroad. According to the current legislation, samples of biological material, including saliva and blood tests, cannot be transported across the border. It is thanks to this that the prices for such analyses in Russia can be kept at an exorbitant level (from 30 thousand to 45 thousand rubles).
Another type of analysis that may be more useful for children is an attempt to predict athletic success in some sports. Scientists believe that they can conduct the most accurate analysis of genetic predisposition for those sports where strength, speed, endurance are needed. For example, for sprinters, swimmers, speed skaters, skiers, cyclists, weightlifters.
With the help of Candidate of Medical Sciences, senior researcher at the Institute of Biomedical Problems of the Russian Academy of Sciences and the St. Petersburg Research Institute of Physical Culture, Ildus Akhmetov, three people were analyzed anonymously - besides the author, the bronze medalist of the Olympic Games, the famous long jumper Igor Ter-Hovhannisyan and the 1980 Olympic champion in the 4x100 meters relay Nikolay Sidorov. Two weeks later it turned out that the Olympic champions had not made a mistake in choosing a profession – the genes of Igor Ter-Hovhannisyan and Nikolai Sidorov showed 100% coincidence with their sport and success. The author also revealed a moderate predisposition to the development of speed and strength qualities.
A more useful test is associated with the identification of mutations that may indicate a predisposition to alcoholic beverages. The result of the tests in one of the largest drug treatment clinics in Moscow was so uncertain, and the conclusions were so vague, that three more independent analyses were needed to find out the truth. It turned out that my risk of becoming an alcoholic was 7.21, with an average population of Europeans of my age – 16, although the presence of a genetic predisposition to alcoholic hepatic encephalopathy (a complex of neuropsychiatric disorders developing with liver failure and/or cirrhosis of the liver - VM), liver cirrhosis and alcoholic myocarditis was revealed.
The summary result of the analysis in two firms – the American 23andme – and the Russian – My gene – in different directions is presented below, but it should be taken into account that about half of the analyzed diseases were included there, among which the most common ones were selected.
The difficulty lies in the fact that almost all diseases are caused by mutations in many genes, and many of them are not yet known to us. There are already more than 1,700 mutations in the human genome that lead to cardiovascular diseases, 5,700 to cancer, 1,400 that cause metabolic diseases. In modern genetic tests, approximately 50-100 diseases are analyzed, the most significant.
Personal choiceThe question of whether to do tests abroad or in Russia, everyone decides independently.
There are laboratories in Russia where you can analyze mutations in your genes at a decent scientific level, but it will be more expensive. On the other hand, in order to sort out your data in the 23andme database, you need to know English decently.
Unfortunately, the results of genetic tests in Russia remain only information for their own entertainment. Geneticists who do the tests themselves do not have the right to provide medical services, that is, to treat and advise. You should not even contact paid doctors – they are not ready for this kind of information.
However, in the American company 23andme for each analysis there is a detailed recommendation to which doctor to contact, with coordinates and phones, but American.
Of the Russian scientists, only a team of scientists led by a candidate of Biological Sciences, an employee of the Laboratory of Prenatal Diagnostics of the D.O. Ott Research Institute of the Russian Academy of Medical Sciences and the Life Medical and Genetic Center Oleg Glotov "decided" to issue detailed recommendations. "It is necessary to "guide" the patient without leaving him alone with such results," he says. Therefore, we make a list of his actions for everyone."
Scientists offered me a variety of restrictions on food, a ban on smoking tobacco, swimming and playing sports, as well as regular monitoring of the level of prostate-specific antigen and other substances in the blood, along with supervision by a therapist, urologist, cardiologist. Only on five pages.
Difference in risk assessmentsThe calculation of risks (risk is the ratio of the individual chance of getting sick to the population) is made personally – data on individual mutations (male Russian, Caucasian, 42 years old, citizen) are compared with the average values of the same mutation in the population.
According to the data that the author received from two companies, 23andme and My gene, the risk of glaucoma in one case is 0.79, in the other – 0.83, for psoriasis these values are 0.87 and 2.34, respectively, for type II diabetes – 0.89 and 24, for Alzheimer's disease – 1.98 and 4.3, for cancer prostate – 1,21 and 143.
If the differences in the risks of Alzheimer's disease can be explained by the fact that Russians are less likely to be diagnosed with this disease than in the United States, then what is the reason for the almost 100-fold difference in the risk of prostate cancer is not very clear.
According to a study conducted by the US National Institutes of Health (NIH) and published in the May issue of the journal Genetics in Medicine, the results of individual genetic testing, which reveals a predisposition to a particular disease, so far do not affect the frequency of people seeking expensive medical care that can prevent its development.
Portal "Eternal youth" http://vechnayamolodost.ru05.06.2012