25 April 2017

About the benefits of genes

Scientist: when people get sick, they immediately forget about the "harm" of genes

Valery Ilyinsky, founder of the Genotek medical and genetic center, told RIA Novosti about why people are afraid of genetic technologies, how current genetic discoveries can affect society in the future, and explained why the company does not publish its research in scientific journals.

Exactly 64 years ago, a revolutionary article by Francis Crick, James Watson and their colleagues describing the molecular structure of DNA appeared in the journal Nature. This discovery, awarded the Nobel Prize in Medicine in 1962, actually created a new science, molecular biology, and served as the basis for thousands of other discoveries.

Valery Ilyinsky talks about how the fruits of this science will penetrate society in the future, and explains how his company conducted sensational research on the origin of Russians.

– 14 years have passed since the completion of the Human Genome Project. Since then, molecular biology has developed at ultra-high speeds. Do you think that social progress keeps up with scientific progress?

– In short, we can say that the public does not have time. Perhaps this is not so bad, as it contributes to the rapid introduction of new technologies.

Today it turns out that scientists first develop something new, for example, new types of gene therapy, and try to adapt them to use in practice. This is a long process, and many things discovered decades ago are only now becoming ready for use. At the moment when scientists are ready to implement something technologically, the public already has a formed opinion about whether it should be done and how this technology can be used.

The same goes for genome decoding. The completion of the project was a high-profile event, but the decoded human genome itself had no practical significance. The genome does not allow treating people, diagnosing diseases – it is just information. Ten years have passed, the public has been discussing the genome, what can be done with it, what cannot be done, an act on the inadmissibility of genetic discrimination by insurance companies and other prohibitions appeared in the United States.

Today it turns out that scientists first develop something new, for example, new types of gene therapy, and try to adapt them to use in practice. This is a long process, and many things discovered decades ago are only now becoming ready for use. At the moment when scientists are ready to implement something technologically, the public already has a formed opinion about whether it should be done and how this technology can be used.

The same goes for genome decoding. The completion of the project was a high-profile event, but the decoded human genome itself had no practical significance. The genome does not allow treating people, diagnosing diseases – it is just information. Ten years have passed, the public has been discussing the genome, what can be done with it, what cannot be done, an act on the inadmissibility of genetic discrimination by insurance companies and other prohibitions appeared in the United States.

– Why didn't other DNA editing techniques cause such a fuss and will scientists find a replacement for CRISPR/Cas9?

– From the point of view of public resonance, CRISPR differs from other genome editing technologies not so much by its scientific content, but by the fact that it was lucky to become popular. The public and politicians simply do not know about the existence of other DNA editing techniques. Of course, there are objective reasons why CRISPR has become popular, but to a greater extent all this is accidental.

The reasons why the United States and other countries are now thinking about moratoriums and CRISPR bans, it seems to me, are more related to the religious sphere. This technology interferes with the sacred processes in the understanding of many people – development, healing, human change. Approximately the same thing happened with IVF: some of its opponents still insist that this procedure is unethical.

In addition, people often do not understand the scope of the use of genomic technologies. For example, the recently sensational procedure for conceiving a child from three parents – the number of such procedures will not exceed a hundred per year, but the discussion itself was very broad and stormy.

As long as such a problem does not come to the family of a particular person, he always opposes artificial conception or gene therapy. But when he encounters her, everything changes in his head: he believes in God, but he also agrees to IVF. It seems to me that the same thing will happen here – everyone was initially against IVF, and now people are actively taking such measures. There is a choice: either you stay with your beliefs, but without children, or you solve this ethical problem for yourself.

– Have you faced rejection or aggression from society or even the authorities?

– We are not engaged in revolutionary and experimental technologies, so such problems do not actually concern us. We implement only those technologies that can be used for medical purposes. Genetic research, which we are engaged in, has been used for a long time, and everyone knows why they are needed.

Unlike CRISPR and IVF, we just give information. Of course, there are people who believe that knowledge about predispositions to certain diseases may not help, but aggravate the situation, but such an argument can be applied to any thing. For example, a weather-dependent person will see an unfavorable weather forecast and do something bad to himself.

– Given the novelty of the field, the question of standards arises – can the results of your genetic tests be compared and combined with data from foreign genomic banks, such as 23andMe?

– There really are no state standards for the interpretation of genetic research data – so far there are only standards for how well we should decipher DNA. Interpretation of the results is not yet regulated by special protocols, and, moreover, there is no idea yet how it can be regulated at all.

In the West there are certain standards in this area, but they are also in their infancy. At the same time, those companies that are engaged in this business use approximately the same algorithms and principles for interpreting data. The markers used by Genotek and 23andMe match by 90%, and there are no fundamental differences between their sets.

The only difference between them is the databases that are used to interpret the results for each person. Each biotech center accumulates such data and uses it to determine how often various diseases occur among carriers of certain gene variants within a particular population, that is, in the country where this company operates.

This means that we will not be able to analyze the American genome as well as 23andMe, and vice versa: it makes no sense for a Russian to compare his genome with the genome of an average US resident, since there are completely different frequencies, different statistics, other risks.

– If we look far into the future, will it be ethical to select embryos based on some physical or aesthetic characteristics? Should the state interfere in this?

– In principle, such procedures are already being done today. In artificial insemination, the so-called preimplantation genetic diagnosis (PGD) is carried out, which allows only healthy embryos to be selected in the presence of dangerous mutations in the parents.

Similar selection in Russia is allowed only for medical reasons – it is impossible to choose a blue-eyed boy or girl. On the other hand, many European countries allow this to be done: I have friends who went to Europe to conceive a child of a certain gender. That is, we can say that some framework in this case has already been set, and without a broad discussion.

The most acute discussion, in my opinion, will revolve around whether a predisposition to specific diseases is a "medical indication". For example, there may be markers indicating an almost 90% chance of developing Alzheimer's disease – but not 100%. There is a chance that the disease will not occur, or you simply will not live to old age.

Now such issues are being resolved at the level of individual doctors, whether they consider it permissible or not. I have met doctors who take on the role of the "supreme judge" who decides that it is permissible for some diseases, but not for others. And when you ask them about the reasons why they do it, they say it's just unethical.

– Your company's research on the origin of Russians has caused a lot of discussion. Could you tell us how you selected the data?

– This study can be divided into two parts. The first is algorithmic – how exactly to determine which group a particular site belongs to, and the second is to understand how to interpret the client's results.

In fact, we did not invent an algorithm, but introduced into our work those approaches that are used by various companies. We take a sample of people whom we consider to be indigenous to a certain territory, examine their genomes and try to find those variants that are more common among this population than among other people. Similarly, ethnic origin is determined by 23andMe, Family Tree DNA and other corporations offering such services.

In addition, there are open data on some Russian populations that we and some other companies use. In this case, "Russians" is not a nationality, but an origin, a native of central Russia, whose ancestors lived here in the foreseeable past. In other words, we have a certain group of people who themselves say that their ancestors have always lived here and did not come from somewhere.

We consider their markers to be signs of indigenous Russians, and their presence in the genome of a random person indicates that some of his ancestors lived in central Russia. Then we took all the people who came to us, without segregating them, and analyzed their origin in a similar way. Where these people came from, what gender, age and wealth they were, did not affect the results of the study in any way. Of course, there were certain peculiarities, such as the absence of the peoples of the North in our sample, but in general we do not think that something distorted our results.

Why is the share of Russians in the genome of current residents of Russia small? In fact, these 16% are not so small – it's no secret that Russians are quite a "mixed" people, and our conclusions generally coincide with what happened in the history of the country. It should not be treated from the point of view of numbers and measured by "Russianness" – these are generalized data that should be considered in the context of the historical development of Russia.

In this respect, we are very similar to The United States – they do not have a pure nation, we can say that pure "genetic Russians" do not exist in principle. Who is an American? This is a huge mixture of people from different ethnic groups, unlike some European countries, which are more homogeneous in terms of genetics. There will be not 16%, but 80%.

– In Russia, genes, GMOs and other things related to genetics and molecular biology are perceived negatively. How can we get rid of this?

– When people do not understand the subject of discussion, it is very difficult to conduct any meaningful dialogue and argumentation is possible only at the level of "I agree" or "I disagree". Therefore, discussions of this type can only be conducted among scientists, and they reach people from them that have little to do with the problem itself.

For example, if you take GMOs, its safety has been checked countless times, but without people having an understanding of how such checks are carried out, it will be impossible to convince that such products do not threaten their health.

Or if we take our tests, people often come to us who, for some reason, are not satisfied with the results of their genealogical tests, and begin to fervently convince us that their dad or mom belonged to some other ethnic groups. Periodically, "relatives of the Romanov dynasty" come to us and ask us to prove it. There's no getting away from it, and people just don't understand how genetic tests work and are figuring something out for themselves.

There is another pattern here – what goes into public discussion is most often prohibited. An example of this is GMOs and gene therapy.

The population as a whole is afraid of everything new, and this gives populist politicians a convenient chance to "take care" of the health of the population and block them.

Genetic tests have not reached this level, and too many people, including doctors, understand why it is necessary and why it is useful. Therefore, all discussions around ethics are countered by the fact that such "unethical" things allow you to live longer.

Because of this, I do not think that the attitude towards GMOs and similar ambiguous things will ever improve, since politicians who want to increase their popularity by fighting GMOs will not disappear anywhere.

Portal "Eternal youth" http://vechnayamolodost.ru  25.04.2017


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