“Boom of hereditary pathologies”: doctors discussed rare diseases in children

For almost a year now, a program of expanded neonatal screening has been operating in Russia – research for the presence of hereditary and congenital diseases in newborns. Pediatricians at the VII All-Russian Conference “Rare Case” discussed the issues of diagnosis, therapy and routing of patients with rare (orphan) diseases. In particular, they touched on the use of artificial intelligence in their identification.

At the end of 2022, a government decree was issued that launched an expanded neonatal screening program. Since 2023, it began to be held throughout the country. According to the document, neonatal screening has expanded from 5 to 36 diseases. The mass standard examination included primary immunodeficiencies, spinal muscular atrophy (SMA) and a number of metabolic disorders.

Deputy Prime Minister of the Russian Federation Tatyana Golikova reported on December 1 that the expanded neonatal screening program, since its launch in Russia in January 2023, has covered 98% of all newborns, that is, over 1 million people have undergone this examination.

“The pediatric community was not very prepared; The biggest problems for regional pediatricians are related to routing – they do not know where to send severe patients,” said the head of the department of orphan diseases and prevention of disabling diseases of the Research Institute of Pediatrics and Children’s Health, Scientific Center No. 2 of the Russian Scientific Center for Surgery named after. ak. B.V. Petrovsky Nato Vashakmadze. “They sometimes don’t know where to call or who to contact. The biggest problem is fear and not very good knowledge.”

Academician of the Russian Academy of Sciences, President of the Union of Pediatricians of Russia, Head of the Department of Faculty Pediatrics of the Russian National Research Medical University named after. N.I. Pirogova, chief freelance pediatric specialist in preventive medicine, Ministry of Health of the Russian Federation Leila Namazova-Baranova summarized in this regard that doctors, preparing for neonatal screening, spent a lot of effort explaining to everyone in detail how to collect tests, how to take them, that is, they focused on the diagnostic algorithm, but “missed a little” on the further management algorithm patients.

“In the same way, today we need to carefully register all these chains – from which region, with what nosology, where to send with specific data, in order to make life easier for both doctors and patients. Because when they start rushing about, many wrong actions are taken, causing a “tail” of problems,” she noted.

When asked whether neonatal screening will be further expanded, the head of the laboratory of hereditary metabolic diseases and the selective screening laboratory of the Medical Genetic Research Center named after. ak. N.P. Bochkova of the Ministry of Education and Science of the Russian Federation, Chairman of the Expert Council of the All-Russian Society of Orphan Diseases Ekaterina Zakharova replied that this should first be tested in pilot projects. Among the plans for the near future are lysosomal diseases.

A candidate for expanded screening is Pompe disease (damage to muscle and nerve cells throughout the body). According to Zakharova, in about five years we can expect expanded screening for more diseases.

Leila Namazova-Baranova spoke about how to inform parents about a disease detected in a child: to do this, you need to work more actively with the psychological community so that it is announced “as ethically as possible and with the selection of the right words.” “It is necessary to prescribe the procedure for announcing the diagnosis of a rare disease of a child to his parents, since now this takes place in different formats,” she noted.

As for modern methods of treating such diseases, Nato Vashakmadze said that now the trend all over the world is “combination therapy, which is even more expensive than treating a patient with one drug.” “It’s interesting that in the last year new directions in narrow pathologies have been promoted,” she said. For example, there are many new drugs in ophthalmology.

According to the doctor, in the field of cardiology it is still necessary to conduct screening tests to determine cholesterol levels – the question is, at what age should they be carried out? In Russia there are pilot projects to conduct such studies at 10-11 years, and abroad in some countries – at 5-6 years.

“The last twenty years have seen a boom in hereditary pathologies, so our cooperation with geneticists is very fruitful; no matter what field you work in, the doctor should always be informed,” Vashakmadze emphasized. At the same time, she admitted that the basic knowledge of genetics in general among doctors is weak, although there are now many different educational programs. Screening helped in this regard – “we received patients with a ready-made diagnosis.”

Doctors also discussed interaction with AI (artificial intelligence) in identifying orphan diseases in children. AI will be present in our lives more and more, this is an obvious fact, as in medicine; Another thing is that a person must understand well what comes first is the human brain. Everything else is secondary. If we violate this logic, we will come to disastrous results,” said Leila Namazova-Baranova. It is known that Roszdravnadzor has already banned the use of some AI programs in medicine, as numerous errors were identified in making diagnoses and choosing treatment methods. Ekaterina Zakharova agreed that AI will never be able to replace a doctor, but it can be useful to him in terms of tips.