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Wednesday, March 14, 2018

Genetics will help women to give birth only to healthy children

Russian scientists, geneticists and experts gathered at a round table in the Public Chamber of the Russian Federation, discussed the prospects for expanding newborn screening programs for inherited diseases. Among other things, scientists consider it necessary to conduct a total genetic diagnosis for chromosomal abnormalities of embryos to those who make ECO — friendly new medical technology can intervene in the course of evolution and to choose only healthy embryos. This is the simplest way to reduce a huge amount that today’s budget allocates for the treatment of genetic disorders.

photo: pixabay.com

According to various estimates, congenital hereditary pathology have from 3 to 7% of children. In Russia and around the world, rare diseases, most of which are hereditary, putting a heavy burden on the budget. The cost of 1 patient with a rare disease can reach 20 million roubles a year. As the head of the Centre for research and analysis of population, demography and health of the Institute of EurAsEC Elena Krasilnikova, if even in 2013, patients with rare hereditary diseases cost the budget of 4 billion rubles, in 2016 — in the 15.5 billion. And here we have only people from 17 disorders included in the state program. The rest, no one thought, however, is known about 8 thousand genetic diseases. “To prevent these diseases significantly cheaper than to treat them,” says Elena Krasilnikova.

To avert this in some cases means to diagnose at an early stage, and sometimes it is just not to give birth to such children. Of course, to explore newborn or not yet born at all 8 thousand of diseases makes no sense. Moreover, many of them are still incurable. However, early detection of pathologies can be avoided the tragic endings of disability or death. Sometimes it’s extremely simple — there is a hereditary disease that can be cured just by diet, vitamins or cheap drugs. For example, phenylketonuria, which in our country are exploring all babies. As the Director of the Medico-genetic scientific centre of FANO of Russia Sergey Kutsev, in this disease it is extremely important to feed babies every two hours, otherwise they may fall into a coma.

Today is the screening of children for the most common genetic diseases — cystic fibrosis, congenital hypothyroidism, phenylketonuria, down syndrome. However Kutsev sure that this list it’s time to expand. Moreover, the order of the expansion of the program of neonatal screening have already given Russian President Vladimir Putin. At the end of last year the Coordinating Council for children took the decision in this regard. In the Sverdlovsk region began an experiment to study infants at a wide range of diseases (blood is analyzed for 40 abnormalities, 29 of which today there is effective treatment). “It is very important as early as possible to identify hereditary diseases for which today there is treatment”, – says Sergey Kutsev.

Unfortunately, today science has almost found ways to prevent the birth or conception of children with genetic diseases at the natural pregnancy. With the exception of down syndrome, and several chromosomal abnormalities that are 80% likely to diagnose in the womb. And yet, every fifth case of the syndrome in the end, today is skipped. Screening the high risk of genetic chromosomal abnormalities detected in 1 in 20 pregnant women; to confirm the need for invasive diagnostics, which many refuse, as it creates risks for the mother in the form of a threatened miscarriage (requires puncture of the amniotic SAC). In addition, the results of such a diagnosis 99% of the suspicions are not confirmed… However, today there are modern methods of genetic diagnostics that can identify down syndrome and other chromosomal abnormalities (Edwards syndrome, patau syndrome, the syndrome Shereshevsky-Turner and others) in the DNA of the child with 100% probability at the drop of mother’s blood. Unfortunately, the program such methods have not yet been included, while in some countries they are widely used.

But in artificial insemination today, everything is possible. So-called preimplantation diagnostics to select only healthy embryos and transplant them to expectant mothers. This is especially true for families where there are children with serious illnesses. “Some give birth to one child, he dies, then the other with the same variance, – says the Director of the Institute of stem cells Arthur Isaev. Is a tragedy for the family and costs for the state. In such families mothers are forced to quit working in the child’s treatment costs a huge amount. Of course, for these families, pre-implantation diagnosis is vital, and the government should give them this option together with the option ECO”.

However, as noted academician, Director of the center of bioengineering RAS Konstantin Skryabin, on the way to the introduction of new diagnostic techniques in genetics is an important obstacle – the law the health Ministry is unable to license laboratories that develop and implement such methods first. As a result, the possibility of their cooperation with medical institutions is limited. On this issue it was decided to request the Government to instruct the Ministry of health and Roszdravnadzor to prepare and adopt normative-legal acts, which allows to certify the laboratory of advanced development, introducing new techniques in medical genetics, in a special manner.

Meanwhile, according to the study “Economic, demographic and social consequences of of investment in in-vitro fertilization in the Russian Federation” held at the Department of drug supply and pharmacoeconomics of the First Moscow state medical University I. M. Sechenov, soon every fifth child in the country will be born through IVF. Holding about 24 450 IVF cycles for OMS was able to increase absolute population growth of 22.5%. Annual use IVF to 2075 will create additional population growth, estimated at 319 thousand people of working age, as well as 222 thousands of people under the age of 20 years. So the new pre-implantation diagnosis can become very popular.

…The round table participants agreed that new methods of genetic screening it is urgent to introduce into the Russian health care system. According to Artur Isaev, this requires the programme to combat hereditary diseases that will not only reduce the number of children with disabilities and child mortality in the country, but also reduce the cost of treatment of rare patients. The roundtable participants appealed to the Prime Minister of the Russian Government Dmitry Medvedev and his Deputy Olga Golodets asking relevant ministries to develop such a program.


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