Is it possible to plan a healthy person?
Maria Karnauh, Rus2Web
A new medical service is being actively promoted in Russia – DNA testing for parents, which allows predicting diseases in an unborn child. Market participants want to introduce such testing at the state level: in their opinion, it will help reduce the number of disabled people being born. Rus2Web found out what advantages this diagnosis has, and what to do with the ethical side of the issue.
According to the World Health Organization, up to 5% of children with hereditary diseases are born every year in the world. In Russia, according to Rosstat, over the past five years, the number of disabled children has increased and is about 2% of children. At the same time, every fifth disease (20.6%) is associated with congenital anomalies, deformity and chromosomal disorders.
Some Russian medical companies propose to reduce the number of disabled people by introducing a special program of DNA testing of parents during pregnancy planning. Such a program can be launched at the state level in a pilot mode in ten Russian regions as early as 2017. The companies claim that in this way the state will be able to reduce the costs of disabled people: after all, it is cheaper to do one DNA test than to keep a sick person for years.
Rus2Web drew attention to a number of serious problems related to this topic. Firstly, the ethical and moral side of the issue: the rejection of a child based on a genetic test is a serious topic for discussion. Secondly, the justification for the need for such a service at the state level also raises questions: we could not find official statistics on children with genetic diseases and isolate state expenditures on them. It is known that the volume of subventions (payments from the federal budget) to disabled children in 2016 was increased by 5% to 32,096 billion rubles. How much of this money is received by those who suffer from congenital genetic diseases is not indicated in open sources.
To understand this topic, we talked with representatives of companies that offer DNA testing services, with outside experts and specialists who work with sick children, and also learned the opinion of the priest.
DNA testing as a service
Research in the field of DNA testing, which would allow to identify possible mutations, has been going on in the world since the mid-1970s. Among the latest developments is DNA testing of parents during pregnancy planning, which allows to identify the risk of having a child with a severe genetic disease. According to experts, this analysis is most actively used in the USA, Iceland, Iran.
In the Russian market, DNA testing of parents during pregnancy planning has been offered for several years, first of all, by the Genotek company and the Genetico Center (cooperates with the Institute of Reproductive Genetics (RGI) Chicago). The cost of the service is 11-14 thousand rubles. The company "Genotek" is investigating more than 1.3 thousand mutations that relate to 465 hereditary diseases. Genetico analyzes 40 genes, which makes it possible to identify about 30 of the most common serious diseases or incompatible with life. These include cystic fibrosis, Duchenne myopathy, phenylketonuria, Tay-Sachs disease, familial Mediterranean fever (Armenian disease) and many others.
According to the founder of the Genetico Center Artur Isaev, five years ago such an analysis was perceived as exotic, but now families where there is already a sick child have begun to think about it. In total, according to the estimates of the medical company, now less than 1% of expectant parents in Russia are doing testing.
"Our DNA screening in parents planning pregnancy allows us to identify the carrier of severe hereditary diseases that cannot be treated. They are accompanied by early childhood death or severe disability and death at a later age," says Isaev.
At the same time, he adds that sick children are born to healthy people. "Each of us has, on average, from 6 to 15 mutations that are associated with severe hereditary diseases. They do not interfere with life in any way, and are dangerous only if they coincide with the genetic mutations of the partner," explains the representative of the Genetico Center. He emphasizes: the risk of having a sick child is observed mainly in the case of monogenic diseases – that is, if both parents are carriers of a pathological mutation in the same gene. "Either there is a mutation, and the disease is guaranteed to be, or there is no mutation, and the disease is guaranteed not to develop," says Valery Ilyinsky, co–founder of Genotek.
Meanwhile, Ruslan Tkachenko, chairman of the Moscow branch of the public organization "For the Rights of the Family" and director of the ANO "Institute of Demographic Development and Reproductive Potential", recalls that DNA testing does not give a 100% result. "How true, in principle, such analyses are, can be judged by the results of fetal screenings. In some cases, parents were told that you would definitely have a sick child and offered to have an abortion. Parents refused, and as a result, quite healthy children were born," the expert says.
What to do with the results of the DNA test
According to representatives of medical companies, if parents find out that they have a risk of having a child with a serious illness, they have the following options for further action:
Depending on the carrier of which disease the parents are, the procedure of in vitro fertilization (IVF) can be used. It allows genetic analysis to be carried out for the obtained embryos, with the help of which those that do not carry pathogenic mutations are selected (this is Preimplantation genetic diagnosis, PGD). As Isaev reminds, in Russia, the IVF procedure is paid for by the state if it is carried out for medical reasons. PGD is still being done at the expense of parents. The cost of IVF is about 110 thousand rubles, and the cost of testing one embryo is from 30 thousand rubles.
As Ilyinsky emphasizes, we are talking about diseases, the negative manifestation of which can be compensated by medication or by changing the lifestyle. For example, phenylketonuria occurs in a child under the age of 14 due to the fact that phenylalanine, which is found in many foods, including breast milk, acts on his body as a poison. If a couple knows about the risk of having a child with such a disease, then a biochemical test is carried out immediately after birth – it allows you to check whether the child really inherited phenylketonuria. If so, then from the first day of his life he is transferred to artificial feeding and a special diet, and he grows absolutely healthy. According to Isaev, from the point of view of economics and healthcare, the detection of such diseases is most beneficial to the state – treatment carried out on time will help save the budget.
However, Isaev admits that despite all the efforts of science, some percentage of children with hereditary diseases will still be born. "Scientists will not be able to fully predict changes in genes, and diagnostics will not always help to identify hereditary diseases," the expert notes.
Giving birth or abortion
A couple can try to get pregnant and do a genetic analysis for the fetus. If it turns out that the fetus has incurable hereditary diseases, then "parents make a meaningful decision to give birth to a child or terminate the pregnancy," says Isaev. As Ilyinsky reminds, in this situation it is possible to have an abortion for medical reasons. "This is also one of the options for preventing the birth of a child with pathology. Abortion in this regard is considered in the context of the subsequent conception of a healthy child," says the representative of Genoteka.
The ethical side of the issue
Valery Ilyinsky from Genotek is convinced that DNA testing for the detection of future fetal pathologies cannot be considered as part of eugenics. "We have a purely medical project, because it is not aimed at improving the physical qualities of a person, but at ensuring that all people are healthy," he emphasizes. "The issue of ethics is not too acute, because we are talking about people's health. Everything that improves the quality of physical life and does not harm other people, as a rule, is perceived in society as an ethical method," Isaev says.
However, there is another point of view. So, Ruslan Tkachenko from the Institute of Demographic Development and Reproductive Potential believes that the idea to reduce the number of disabled people who are born in Russia is "exclusively fascist ideology." He reminds that the main question that parents who have done such a test face is what to do with its results. "Testing should not be an incentive for a surge in the number of abortions – and it is not a fact that children would definitely be born with severe abnormalities. After screening during pregnancy was introduced into medicine, the number of abortions increased."
Rus2Web also spoke with Archpriest Alexei Uminsky. He also drew attention to the fact that DNA testing of parents puts them in front of a difficult moral choice: what to do with the test results. "To exclude the right to the birth of a disabled person is a rather difficult moral and ethical choice. Because disabled people are people," says the clergyman. – They exist, among other things, in order for people to remain human. The very principle that only the healthy and strong have the right to life ultimately boils down to the fascist theory."
Savings on disabled people
Medical companies claim that the state is interested in DNA analysis of parents. According to Valery Ilyinsky, co-founder of the Genotek company, DNA testing of parents will give an opportunity to save the budget. "According to regional budgets, now the provision of medicines for one child with a disability costs the state annually, on average, 2.5 million rubles a year," says Ilyinsky (there is no confirmation from official sources of this data – approx.). "The non–birth of a child with a pathology will enable the state to save. This may be one of the preventive measures that the state uses to reduce the number of people whose treatment it pays for," says the representative of Genoteka.
According to Ilyinsky, at the moment, the introduction of an experimental DNA testing program in ten Russian regions in 2017 is being discussed: for some families, the tests will be paid for by the state. At the same time, we are not talking about scaling on the territory of the whole of Russia yet. Who exactly will be able to do DNA testing has not yet been decided, but for now, according to Ilyinsky, it is worth focusing on the effective diagnosis of people and families who have already manifested hereditary pathology. "The main point of our program is to allow families where there is already a disabled child with a hereditary genetic disease to confidently and safely give birth to subsequent children healthy," he says.
Meanwhile, Ruslan Tkachenko from the Institute of Demographic Development and Reproductive Potential reminds that if you look at the number of real disabled people who are born due to the fact that their parents have matched gene mutations, then there are only a few. "Genetic diseases are fractions of a percent against the background of disabilities caused by other problems: as a result of vaccinations, due to improper pregnancy," says Tkachenko. – Therefore, it is impossible to say that the state can save a lot by controlling the birth rate of disabled people. In addition, if we take into account that IVF is done at the expense of the state with medical indicators and sum up all the costs of DNA testing, it is unlikely that the introduction of such an analysis will help the state save money."
From Tkachenko's point of view, an attempt to promote DNA testing as an effective way to reduce spending from the budget is the desire of medical companies to advertise themselves, demonstrate that such tests are necessary for the state, and receive state funding. "It resembles an attempt by startups to promote a service that will generate revenue. However, if such companies had really good results, they would have a more massive demand among the population, and clinics that have been on the market for a long time would have included such testing in their price list," the expert is convinced.
At the same time, human rights activists fear that this procedure may become another tool in the state's struggle against citizens. "Such a DNA analysis program will allow the state, at a minimum, to individualize social obligations to citizens by dividing citizens into separate small groups depending on the identified genetic characteristics," says Ivan Begtin, a member of the Civil Initiatives Committee, Director of the Information Culture NGO.
According to him, the DNA analysis program will allow representatives of the state themselves or through agents represented by companies to identify "hidden" kinship ties between citizens. By hiring a person, employers can get the right to request this information, arguing that they have the right to know about the health status of a future employee. At the same time, it is more likely that employers who provide employees with voluntary health insurance will be the first to make such requests – they will be the first to implement genetic discrimination. In addition, in the future, the special services may begin to oblige all citizens to take DNA samples before the flight and check for the region of origin of a person and the presence of his family ties with already known terrorists. "In fact, it is not so difficult to ensure this – there will be one or two major terrorist attacks at air hubs, and such a method will almost inevitably appear," the expert is convinced.
Lida Moniava, Deputy Director of the children's hospice "House with a lighthouse"
I think parents should have a choice. DNA testing during pregnancy planning will give parents the opportunity to consciously make a decision – whether they are ready to take care of a sick child. I know many parents who have children with incurable diseases in their family. They know from their own experience what it is to take care of a seriously ill child. And they have the right both to want to give birth to another child with such a disease, and to refuse this step.
However, do not forget that, firstly, such tests to identify potential pathologies and genetic diseases, both during pregnancy planning and during standard screenings during pregnancy, are quite often mistaken. And secondly, even if the child is disabled, you can still have a good and happy life with him. And personally, I am against the approach – let's kill children because they are disabled.
Archpriest Alexy Uminsky:
The question of whether to give birth to a child with an incurable genetic disease or not is a difficult moral question. The choice in this case is always up to the parents. I don't think that someone from the outside - even a priest – can interfere in the area of parental relations and say: forget about the children or, conversely, do nothing. The main principle on the part of the priest, as well as on the part of the doctor – do no harm. If the parents' decision is not related to abortion or the destruction of embryos, which the Church considers to have already begun life, then this is entirely the parents' business. Either give up the opportunity to have children, or use the IVF procedure, or adopt a child.
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