26 December 2016

Gene analysis at government expense

Expert: the state will pay for DNA tests for child planning

Artem Elmuratov, one of the co-founders of Genotek, told RIA Novosti about how genetic research will become the basis of Russian medicine in the coming years, how it will solve the problem of rare diseases and improve the lives of disabled people, and how the government and private companies will implement all this.

Genotek is one of the first and largest biomedical corporations in Russia engaged in genetic testing and DNA analysis. According to the press service, Genotek is the only one in Russia offering genome sequencing services, and DNA tests conducted by the company helped save the lives of about a hundred people suffering from rare diseases.

This week, representatives of Genotek and a number of other biomedical and pharmaceutical companies presented HealthNet, a roadmap for the development of personal medicine and biotechnological services that improve the quality of life and health of Russians from 2016 to 2035. One of its key elements, as Elmuratov said, can be free genetic tests for couples who want to have a child and at the same time live in certain regions of Russia or are at risk.

This, according to him, will not only improve the health of Russians, but will also make it possible to spend more efficiently the funds that the state allocates today to support disabled people. According to Genotek calculations, screening before pregnancy, at the stage of its planning, will help to reduce government costs due to rapid diagnosis, timely treatment of rare diseases and reduction of their prevalence among the population of the Russian Federation.

– Artem, tell us what you talked about with Dmitry Medvedev and other members of the Council for Economic Modernization and Innovative Development of Russia, and did you manage to achieve what you wanted to implement?

– The main issue that we discussed today is the adoption of the HealthNet roadmap as part of the National Technology Initiative. All ten cards that are accepted under the NTI cover those areas of business and technology that are considered the markets of the future today and which will occupy a huge share in the economy by 2035. Russian companies, as the government plans, should take a key role in these markets.

Looking ahead, I can say that the HealthNet discussion ended positively, and the draft map was approved. We and the St. Petersburg company AGCT, engaged in genome editing for HIV treatment, presented our projects that can be implemented within the framework of this roadmap.

We are primarily interested in the diagnosis of hereditary diseases and how such techniques can help in family planning for people at risk. We announced at the meeting that we will develop this area within the framework of pilot projects in the regions of Russia.

In addition, we are working together with the Institute of General Genetics of the Russian Academy of Sciences to develop technologies that will allow selecting therapies for cancer treatment in accordance with those mutations that are present in the tumor. We told Dmitry Anatolyevich about bioinformatics and asked the commission to support the roadmap.

– Won't such sequencing lead to an increase in the number of disabled people and the burden on the budget? Will the state "shoot itself in the foot", figuratively speaking?

– In my opinion, the workload will actually decrease if such studies are conducted among risk groups. The costs of genetic research among couples who already have children with genetic diseases will be lower than the costs from the federal and regional budgets for the treatment and maintenance of disabled children who could be born in these families.

There are two ways – parents give birth to a disabled child, they find a hereditary disease, and the state is obliged to treat it at its own expense for many years, or a study is being conducted, they have a mutation, and they either undergo perinatal diagnosis or preimplantation diagnosis with artificial insemination. Treatment costs a lot of money, and testing helps to reduce these costs. I have come across a similar opinion of our officials, but we must understand that these diseases will not disappear anywhere, and children will still need to be treated.

– In addition to money, qualified personnel are also required for the implementation of such projects. Will there be enough of them in Russia, especially in provincial towns and villages, to implement this task?

– It should be understood that we do not propose to sequence the DNA of all children who were born today or will be born tomorrow or in the distant future. We are talking about testing only a certain part of the population that is at risk according to certain criteria. If we sequence only risk groups, then we will have the maximum financial return from the point of view of the state, and if we do research for absolutely all couples planning pregnancy, then the benefit from this action is not entirely obvious, and most likely it will not be at all.

Therefore, we do not promote such projects, especially since in such a volume of data, their logistics and analysis, you can simply drown. What we are talking about and plan to do in 2017 is screening for at–risk groups, primarily for families in which there are cases of infant or early mortality with unclear causes, or those couples who live in regions with increased genetic load in the form of, for example, closely related marriages.

In fact, there is not such a large flow of people here, and in the regions it is possible to build a chain of centers for genetic diagnostics, where a large number of DNA samples will be sequenced. In general, this is what is being done in the world – in other countries, including the USA, there are large sequencing centers where samples are brought from virtually all states. Large laboratories allow you to make sequencing more efficient and accessible, if the speed of this procedure is not important. There is no need to buy a sequencer in every village.

– How in general will such procedures help the problem families you are talking about?

– Pregnancy loss, infant mortality and mortality at an early age, for example, up to 4-5 years, is a tragedy for the family. Often parents do not know why the child did not survive, they make various assumptions, the most common of them: an unknown infection or a medical error. Parents often blame themselves. In fact, there could be a situation that no one could influence: a genetic mutation associated with such a disease that did not allow the child to survive. There is also an ethical side to the issue: often families faced with the loss of a child or raising disabled children break up. This measure will help solve many problems proactively.

There are families in which children develop hereditary pathologies, but people do not know about it, since they do not have the opportunity to establish an accurate diagnosis or understand whether this disease is hereditary or not. Then they give birth to another child, and again he turns into a disabled person because of these defects.

And there is a third group of families in which a child with genetic problems that may actually be caused not by hereditary factors, but by newly acquired mutations that his parents do not have. After such cases, married couples begin to be afraid to give birth to another child, although in fact it was an isolated and completely random case. Therefore, sequencing technologies can help parents not to be afraid to have children.

– If we look a little into the future – how possible and expedient is it from a genetic or medical point of view to sequence the DNA of embryos at the earliest stages of their development?

– How are such tests conducted today? Amniotic fluid is taken, which is an invasive procedure, and its side effects can lead to miscarriage. Therefore, such tests are not carried out just like that – good reasons are needed for this, including getting into the risk group.

The good news is that it is not necessary to climb into the womb to conduct such tests. The DNA of the embryo enters the blood of a pregnant woman, and over the past few years, methods have been developing that allow sequencing the blood and isolating the genome of the child from it, relying on the fact that it is contained in the blood much less than the DNA of the mother.

The problem is that we can now find a fairly limited list of pathologies in this way, but methods are improving, and over time more and more hereditary diseases and chromosomal disorders can be searched in this way.

Now we are working on this technique and working on its improvement, and we are working on optimizing the process so that the test is cheap. At current prices – it costs about 30 thousand rubles – it is unlikely to be implemented for everyone, but if it becomes cheaper three times, then it can be included in the MHI system. Prices are going down, how fast this decline will go is another question.

– When it comes to DNA, genome, sequencing and other things, many people in Russia react to all this extremely negatively. What, in your opinion, is the reason for such a reaction?

– To be honest, I don't know how much better or worse our country treats genetics compared to the world as a whole, I can only assume that the negative reaction may have historical reasons.

In Soviet times, genetics was persecuted, and it was not so long ago, and secondly, it is possible that the story of GMOs affects the whole genetics as a whole. Here, in fact, the problem is the lack of awareness of people.

The Evolution Foundation, for example, conducted a survey on genetics in Kazan. Within its framework, people were asked if GMOs were harmful, and the majority said "Yes", whether GMOs should be labeled – the majority also said "Yes", whether all food containing genes should be labeled – and then again, the majority said "yes, because it is dangerous." Why are they afraid? They don't always know what it is, and everything unknown is frightening. That's probably why.

– How deeply religious people look at such problems, have you encountered rejection of such tests on their part?

– Today, some types of biochemical screening are free for all pregnant women and recently delivered mothers. As far as I know, the percentage of refusals is very small, including among religious patients. Of course, there are cases of this, but these are isolated incidents and very unique situations.

We have discussed these issues separately with doctors and geneticists from the regions, and in general, they say that many religious people initially have a negative attitude to such tests, however, if they are explained why it is necessary, they undergo all the necessary procedures and tests. The main thing here is to explain all this very well and calmly.

There is a vivid example of positive interaction between religious communities and geneticists. Jewish communities in the USA, Canada and Israel are an example of how religion and genetics help each other. In the 1970s, it was decided in Ashkenazi Jewish communities to conduct genetic checks to determine whether their members were carriers of genes associated with Tay-Sachs disease. This is a hereditary disease that leads to early death and disability.

Thanks to their interaction with scientists, the incidence of this disease, which was previously called "Jewish disease", has now become lower among Jews in America than among non-Jews, thanks to the tests that have been done over the past thirty years. In Israel, the most religious country in the world, any married couple can undergo tests for Tay-Sachs disease and a number of other diseases.

In addition, similar programs are also available in Iran, Saudi Arabia and many other Islamic countries, there are checks for beta-thalassemia, a severe genetic blood disease. So I think science and religion can always agree.

– The cult film "Gattaca" describes a situation in which genetic technologies led to the development of biological apartheid. Will the development of embryo DNA sequencing technologies lead to parents starting to abandon children or perform abortions if they do not arrange them?

– Everything, of course, depends on us, on society as a whole. Companies and scientists play a secondary role here, as they fulfill the demands of society. I want to believe in the best and that people will not overdo the stick in using these technologies.

On the other hand, experience shows that where this happens, government regulation works. For example, in China, many parents are tempted to choose the sex of the child during artificial insemination, and such studies are prohibited by law in China. On the other hand, DNA diagnostics can be performed in China for medical reasons.

In Russia, during the IVF procedure, as far as I know, it is also impossible to come to the clinic and order a boy or a girl, this can only be done if it is necessary for medical reasons, for example, if there is a possibility of developing a disease associated with sex chromosomes.

Of course, I admit that there may be underground clinics where this can be carried out, but at the official level this is unlikely to happen. I don't think we'll reach the point where many parents will start doing something like this.

Portal "Eternal youth" http://vechnayamolodost.ru  26.12.2016

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