16 April 2010

Genetic testing: do you need it?

Genetic testing will never give an accurate resultNadezhda Markina, Infox.ru
Most people would willingly undergo inexpensive genetic testing for hereditary diseases if it gave a one hundred percent result.

That is why such people will be disappointed in the results obtained.

Modern medicine is moving towards becoming not common for everyone, but individual, personalized. Such medicine is based on the analysis of the individual genome and the use of the results of this analysis for prevention and treatment. Scientists have already identified the hereditary nature of more than 200 diseases and studied hundreds of genes associated with them. This is the basis of genetic testing, which assesses a person's predisposition to certain diseases.

Science offers individual genomic services, but do people want to know that they are destined to get sick, for example, breast cancer or diabetes? Oksana Makeeva, Candidate of Medical Sciences from the Research Institute of Medical Genetics of the Tomsk Scientific Center of the Russian Academy of Sciences, told at the congress "EurasiaBio-2010" about how much genetic testing is in demand in society.

Supply and demand"Today, more than 1,000 genetic tests are offered in various laboratories around the world.

There are many companies that offer people to take these tests, bypassing the doctor. But the accuracy of these tests and their significance for medicine sometimes raise doubts. And there is no consensus in the scientific world about their expediency," Makeeva stressed.

The development of the genetic testing market depends not only on the capabilities of science, but also on the demands of society. Interest in genetic testing has been studied in several countries. So, in Germany, according to surveys of 2,076 people, 59% agree that genetic testing should be available to everyone who wants to know about their diseases. In Finland, about 90% agreed with the survey of 1,169 people. In the UK, according to the results of an online survey of 2,510 people, 81% would resort to genetic testing if it were recommended by a doctor. 69% of people expressed interest in testing for cardiovascular diseases, 64% - for cancer. In the USA, according to a telephone survey, 79% of respondents would use a hypothetical test to determine a predisposition to Alzheimer's disease. In the EU countries, 66% would like to resort to genetic testing to select an individual diet.

However, interest in testing and practical actions are not the same thing. For example, according to a study in Germany, 80% of people at risk for breast cancer expressed a desire to be tested, but only 50% actually passed the test.

Do Russians want to know their genes"We conducted a survey of 2,000 people in Tomsk.

To the question "Would you like to assess the hereditary risk of developing diseases that could be avoided with the help of preventive measures?" 85.2% of respondents answered in the affirmative. Women are more interested in testing, just as younger people are more interested than older people. Interest also depends on the state of health.

Through surveys, we have studied the reasons that could encourage people to genetic testing. In the first place (38%) was concern for their health, in the second (22%) — doctor's recommendations, and curiosity is only in fourth place (which contradicts some conclusions of foreign experts who consider curiosity to be the main motivation). Of the reasons that make people refuse testing, Tomsk residents put the lack of money in the first place, and the lack of time in the second place. However, 17% said that nothing can stop them.

88.5% of respondents said that according to the test results they are ready to change their lifestyle, give up bad habits and follow the doctor's recommendations to avoid illness. 11.5% honestly answered that they were not ready. It is not difficult to guess that in practice there are much more of the latter.

Pros and consOf course, identifying the risks of diseases will allow a large number of people to avoid them.

But there are also some negative consequences of the discovery of genetic information. This is due to psychological risks (that is, a person can become depressed after learning about their dysfunctional genes). But what is much more serious is that today it is impossible to exclude incorrect — false positive or false negative — results. Oksana Makeeva emphasized that most of the tests should be carried out by people from the risk group (those whose relatives had these diseases), but not those who have everything in order with heredity.

In general, the more tests are carried out, the more likely it is to find that "something is wrong" with the genes, and this can lead to unnecessary anxiety and unnecessary medical manipulations. For example, if a woman decides to have a breast removed after learning about her bad genes, and the result is not confirmed, it will be a tragedy for her. Or in the case of prostate cancer: the disease develops very slowly and is not life-threatening, something should not be done in advance.

The test shows only what can"There is undoubtedly an interest in genetic testing in society.

But people's expectations of him are usually overstated. Most would like to pass the perfect test, which will give them a one hundred percent guarantee, and there are simply no such. For example, 79% of people would agree to an accurate test for Alzheimer's disease, but there is no such thing yet. At the same time, only 45% of respondents agree to the existing test, which gives one error in ten cases.

That is, people can be motivated to use genetic tests, but the results will often not be what they expect. The task of medical and genetic consultants is to explain to people exactly what information they will receive and what they should do with this information."

It is also very important that long-term prospective studies have now begun, which in many years can really evaluate the results of genetic testing. For example, an international study of genetic predisposition to early onset of Alzheimer's disease, in which Tomsk scientists also participate, as well as a 20−year study of the results of genetic testing for type II diabetes.
The genes of hereditary diseases differ in populations

Another problem in the field of genetic testing to the correspondent Infox.ru The Doctor of Biological Sciences, professor of the Institute of Biochemistry and Genetics of the Ufa Scientific Center of the Russian Academy of Sciences Elsa Khusnutdinova told. Unfortunately, specialists conducting genetic testing for various diseases use the same tests for everyone without taking into account ethnic characteristics. Despite the fact that genetic variations associated with the risk of hereditary diseases vary greatly in different human populations. And the test that shows the correct result, for example, for a Russian, will be incorrect for Yakut.

Learn more about the research of Russian scientists in the field of ethnogenomics presented at the congress "EurasiaBio-2010", Infox.ru he will tell you in the near future

Portal "Eternal youth" http://vechnayamolodost.ru16.04.2010

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