Life map: Russian babies will be tested for new diseases

From April 1, two rare hereditary disorders will be included in the newborn examination program: adrenoleukodystrophy associated with the X chromosome, as well as deficiency of the enzyme aromatic L-amino acid decarboxylase, said Sergey Kutsev, chief freelance specialist in medical genetics at the Ministry of Health. Izvestia investigated why these diseases were included in the neonatal screening program, what treatment options appear when these diseases are detected early, and whether there are plans to further expand the list of diseases included in mandatory neonatal screening.

Early detection

Starting in 2023, Russia has an expanded newborn screening program known as the "heel test." The examination is performed at the earliest possible time after birth: in children born on time, the material is collected on the first or second day of life, and in premature babies — on about the seventh day. For analysis, several drops of blood are used, which are obtained from the child's heel and applied to a special test card.

As part of the test, infants are tested for 36 serious congenital and hereditary pathologies. Such diagnostics allows detecting at the earliest stages, in particular, phenylketonuria, cystic fibrosis, congenital thyroid disorders, adrenogenital disorders, galactosemia, spinal muscular atrophy, various forms of primary immunodeficiency, as well as a whole range of diseases associated with metabolic disorders.

New surveys

X-linked adrenoleukodystrophy occurs due to metabolic disorders of very long-chain fatty acids, which accumulate in tissues and gradually damage the nervous system and adrenal glands. This disease can lead to progressive neurological disorders, as well as cognitive decline and hormonal deficiency.

Aromatic L-amino acid decarboxylase deficiency is one of the rare disorders of neurotransmitter synthesis. It is associated with insufficient production of dopamine and serotonin, which manifests itself in early childhood, in particular, severe motor disorders and muscular hypotension.

Both abnormalities occur at an early age, have a progressive course, significantly affect the development of the child and require the earliest possible detection, since timely therapy can slow the development of complications, improve the prognosis and improve the quality of life.

The expansion of the list of genetic diseases in neonatal screening is directly related to the emergence of domestic test systems, Sergei Leonov, head of the State Duma Committee on Health Protection, told Izvestia. The disease can be included in the program only when there is a possibility of its stable and uninterrupted diagnosis using its own tests.

— Early detection is of key importance, — the politician noted. — The earlier the disease is detected, the sooner therapy can be selected and the higher the child's chances of a full and healthy life.

The list of diseases will be expanded gradually, the deputy said. This will happen as new test systems are developed and the state has the financial capacity to implement them, since each new disease in screening requires additional funding.

The healthcare system should also have sufficient financial resources, and diagnostic solutions should ensure high accuracy at an economically reasonable and affordable cost, Sergey Leonov added.

In the modern patient-centered healthcare system, it is of particular importance to detect diseases at the earliest stages, co-chairman of the All-Russian Union of Patients Yan Vlasov told Izvestia.

—Even with extremely rare occurrences, such pathologies must be detected in the first weeks after birth, since it is during this period that it remains possible to intervene before irreversible changes form," he noted. — In many cases, treatment is based on a substitution approach, in which medical care compensates for the deficiency of substances or functions lost due to a hereditary disorder, thereby assuming the role of mechanisms that do not work in the body.

The earlier such therapy begins, the more likely it is to minimize the risk of severe complications and maintain normal development, the expert noted. Timely diagnosis makes it possible to start treatment promptly, establish a proper monitoring system and refer the child to the necessary specialists, which directly affects the prognosis and further quality of life.

— Additionally, the expansion of screening programs simplifies the planning of medical care and drug provision at the healthcare level, and for families it means faster access to support and getting rid of the long and difficult path to diagnosis, — said Yan Vlasov.

Comprehensive research

Many genetic diseases require lifelong therapy, which is why they differ from common diseases. Not all diseases fall into the neonatal screening program, but only those for which several key factors coincide, Tatyana Butskaya, first deputy chairman of the State Duma Committee on Family Protection, Fatherhood, Motherhood and Childhood, told Izvestia.

First, there must be a clear understanding that the disease exists and how it manifests itself, the politician stressed. Secondly, there should be a real opportunity to diagnose it in a newborn. Thirdly, it is fundamentally important to have treatment or at least effective supportive therapy, because it is not enough just to make a diagnosis, you need to be able to help the child.

— And finally, the fourth factor is the financial capabilities of the state included in the budget of the healthcare system. Only when all these conditions coincide is the disease included in the federal program, and every newborn gets the right to examination and treatment, — said Tatiana Butskaya.

At the same time, modern pharmacology is actively developing, and treatment methods that affect the genome level are already appearing, the deputy noted. The list of diseases in mandatory neonatal screening is likely to expand in the future as diagnostic, therapeutic, and financial opportunities become available.

Izvestia sent a request to the Ministry of Health, but no response had been received at the time of publication.