Expanded neonatal screening: implementation of the federal program

On Wednesday, October 12, an extremely important press conference was held at the St. Petersburg office of TASS on Shpalernaya.

I would put her at the top of my list of events for journalists since the beginning of the season. The press conference is dedicated to genetic testing of newborns aimed at preventing the development of serious diseases and reducing infant mortality.

The general task is to get a larger population, and also a healthier one. We started with what is technically easier to do. From January 1, a new neonatal screening system will be introduced in Russia. The heel test expands from five nosologies to 36 different hereditary diseases. Basically, these are metabolic diseases, as well as primary immunodeficiency and spinal muscular atrophy in all its forms, including the most threatening. By the way, Moscow is already screening for SMA. For screening, such diseases are selected that are amenable to sufficiently reliable treatment with early detection. For example, SMA is determined by a fairly rare recessive allele. The probability of his going into a homozygous state is extremely small. Naturally, except for closely related marriages with hereditary burdens. Illness is rare, yes aptly. If you wait for a manifestation for diagnosis, neurons die and treatment is difficult. To pay for an expensive medicine in Russia, the Circle of Kindness Foundation was created.

Four specialists spoke about the readiness of the healthcare system for innovations and analysis: Yana Pantyunina, head of the department for organizing medical care for mothers and children of the St. Petersburg Health Committee; in St. Petersburg Health Vitaly Bezhenar and chief neonatologist of the St. Petersburg Health Committee Yulia Gorelik.

A recording of the press conference is available on the page of the VKontakte agency. by the address.

The participants of the press conference spoke about the background, preparation and organization of the new federal project.

The earlier the detection, the more effective the treatment. 90% of hereditary diseases manifest themselves in childhood, 50% in the first year of life. Treatment can be very different. For example, diet is enough for phenylketonuria because phenylalanine is toxic to the brain. This disease is literally the only one in which the rejection of breastfeeding is really indicated.

Genetic counseling includes not only neonatal, but also prenatal screening in women with a completed pregnancy. If a fetal defect that is incompatible with life is detected, the question of terminating the pregnancy is raised. This requires the consent of the woman.

In the past, prenatal screening was done invasively for indications such as the likelihood of having a baby with translocation Down syndrome if a family wants to have a normal baby. The translocation itself can be detected earlier by anomaly in the karyotype.

Regional neonatal screening projects have been introduced for a long time and have already become commonplace. Federal screening for five diseases has been carried out since 2006. Consent for the collection of material is not required. From the heel of the baby, not five drops of blood will be taken, but eight for analysis in 36 nosologies, and this is enough.

The preparation of an expanded version of neonatal screening took a year. The start was the adoption of a resolution of the Federation Council at a plenary session on September 23, 2020. Then, regulatory documents were prepared for a year, including the order of the Ministry of Health.

About preparation project “MP” wrote earlier https://mospravda.ru/2021/12/07/294089/

It was necessary to reform the medical genetic consultation service in the country. Management errors have been identified. Not all regions have medical genetic centers. The new project forced to replenish the network of medical genetic service. It is organized into four levels. Petersburg Center has been operating for fifty years, it became one of the first two. He was awarded the third – the highest level. There are ten such centers in the country.

Petersburg will receive biomaterial from ten regions of the Northwestern Federal District. The state is expanding two and a half times. The results of analyzes from all district reference centers are transferred to the federal reference center, the head institution of the Medical Genetic Center. Bochkov.

2.5 billion rubles were allocated for the purchase of equipment. Equipment has already been installed, including instruments for molecular genetic analysis and imported tandem mass spectrometers specifically for neonatal screening. The procedure for neonatal screening is strictly regulated. 48 hours are allotted for the sampling of biomaterial, 24 hours for delivery, mainly by plane. 72 hours are allotted for diagnosis. Another 24 hours are allotted for sending the data back to the sampling site. The whole procedure is no more than ten days. In case of receiving a positive test, it is prescribed to conduct a recheck, that is, a re-analysis.

During this time, the child with his mother has already been discharged from the maternity hospital, and he must be found through the polyclinic link.

The trick is that during the initial collection, the child still has neither a name nor a birth certificate. We need to identify it accurately and avoid confusion. With 36 nosologies it is more difficult. For those who are especially impressionable, it is specially noted that even a confirmed test is far from a diagnosis. Genetic abnormalities do not always manifest as a disease. The main thing here is to start treatment on time.

Micropediatrists and neonatologists are happy. Russia breaks out among the most progressive countries.

And yet they are cautious with enthusiasm. What are politely called managerial errors are, in fact, banal sabotage. Many patients face it in a wide range – from the reluctance to produce domestic immunoglobulins to compensate for primary immunodeficiency to endless bureaucratic inventions in the implementation of CHI. After the science failed the covid crash test, the problem of inappropriate equipment was revealed, on which it was impossible to obtain interpretable results. Because of this, covid tests give a lot of both false positive and false negative results.

To my knowledge, particular human genetics is in a much better state than general and evolutionary genetics.

But this is in Russia. What is happening in the medical genetic consultation of the United States defies comprehension, and, unfortunately, their infection penetrates us. For example, overdiagnosis of autism. The etiology of the disease is unknown. Extra idle neurons and synapses are not eliminated for some unknown reason, a huge brain grows, which works like Lem’s fantasy as a thing in itself. This is very rare and has no cure. What is being treated is not autism and requires an adequate diagnosis.

In Russia, there is also the problem of public procurement, an eternal topic. Almost everything for healthcare can be done by the country itself. However, even if the Ministry of Industry and Trade tries hard, the brakes of the Ministry of Finance and the Ministry of Economics are on guard.

Russia at the beginning of the century was the leader in human genetic analysis. Then they passed laws to deprive the country of intellectual property rights in genetics. In Soviet times, the country was a leader in biotechnology, and then they decided even easier, with the collapse of the Union, the equipment was thrown out of the windows.

In the case of neonatal screening, one can rely on the will of the president and the enthusiasm of medical geneticists.

Medical genetic counseling has been developing in the country for a long time and slowly. Bochkov, who became the chief medical geneticist, was a rather unpleasant type, more a politician than a geneticist. This is understandable, given the history of our science. And by the way, under Lysenko, the pressure on genetics was not the strongest. In Russia, some were shot even before the war. In Europe and the USA they were simply poisoned. Nevertheless, domestic medical genetic counseling has taxied to the only true main path.

However, the solution of the complex task of growing a healthy population requires much more effort, including research in the framework of general and evolutionary genetics. After the extravagant mathematician and journalist Marat Musin, I am not aware of such studies. There were also studies in the framework of quantitative genetics, but in insufficient volume. They are equated with fascism. I must say, our world hegemon surprisingly accurately determines what Russia needs to be banned to stop world development, much better than we identify what needs to be done and what no one will do without us.

Expanded neonatal screening is a breakthrough no less than oncology solutions, including pediatric oncology. The costs are high, but they are, roughly speaking, cost-effective, given the economic losses from diseases that can be treated if detected in a timely manner. The moral losses are immeasurable. To do this, you need to be in the state of the mother of a disabled child. It is for this reason that I find it perfectly reasonable not to require consent. A woman after childbirth simply does not understand what it is about. She faces a lot of specific tasks that no one will solve for her. It is necessary to adapt to a new way of life and learn to breastfeed so that the natural process brings benefits and pleasure due to the casomorphins of the mother’s body excreted in milk.

I must again recall the main problems that were somehow solved in Soviet times. Gigantic harm has been caused by the programs of propaganda of refusal of childbearing under the guise of birth control. In an average teenage girl, by the age of menarche, about four hundred future eggs mature, which get stuck at the prophase stage of meiosis. Then they will, every lunar month, alternately from the right and left ovaries, mature to the state of an egg capable of fertilization.

Accordingly, by the age of 35, when a woman, having accumulated a bouquet of genitourinary ailments, begins to remember children, her germ cells will accumulate mutation exponents at a rate. It’s just from age. My studies on seeds of higher plants have shown that, without additional protection, the level of mutability incompatible with life accumulates much faster. Perhaps for this reason, imported seeds practically do not germinate.

Male sperm ages much faster, but this aging occurs in a peculiar way. The sperm itself is always fresh until the moment of copulation, then already in the genital tract of a woman, spermatozoa with the Y chromosome predominantly die. Therefore, with frequent sexual activity, the probability of getting on ovulation is higher and boys are born more often, with rare – girls. But this is not an absolute law, there are still genetic features.

And everything would be fine, but the trouble is that with age, sperm activity drops rapidly, and fertilization in this case does not occur. The cause of male extinction is unknown. But it is known that the range between sexual and social maturity in women is increasing.

So the doctors will fulfill their tasks if Bastrykin does not eat. The Duma promises to protect. And most importantly, comrades Russians, they must think for themselves. Russia has long proved that love is cheaper than hate, but hatred is still more tempting. Here medical genetic counseling will not help.

Lev MOSKOVKIN.