A national telematics system was developed and implemented – the National Genetic Register of the Republic of Kazakhstan, the only one in the whole CIS

In order to implement the National Demographic Policy to improve the reproductive and genetic health of the population of Kazakhstan and create a single system for monitoring the genetic health of the nation, a National Telematics System “National Genetic Register of the Republic of Kazakhstan” was developed and implemented on the basis of the Scientific Center of Obstetrics, Gynecology and Perinatology, CIS.

At the same time, the “Genetic Human Passport” was implemented, which performs pre-clinical diagnosis and treatment of serious diseases, taking into account the genotype of each patient.

In the Republic of Kazakhstan, since 2007, genetic screening of pregnant women and neonatal screening has been carried out.

To date, genetic screening passed 805,000 pregnant women, conducted 19,000 invasive prenatal procedures diagnosed in utero and prevented the birth of 893 children with Down syndrome, 5,600 children with lethal congenital malformations.

Neonatal screening is carried out on two hereditary diseases-congenital hypothyroidism and phenylketonuria. In all, 1145706 newborns were examined during the years of neonatal screening, 52 children with phenylketonuria were diagnosed, and congenital hypothyroidism was diagnosed in 165 children. Children with PKU are at the dispensary in the medical-genetic consultations, receive a free diet therapy, undergo regular testing and monitoring the effectiveness of treatment. All children with congenital hypothyroidism receive treatment from endocrinologists and do not have disabling effects.

Also, it should be noted that the study of medical and genetic consequences of years of nuclear tests at the Semipalatinsk test site has received international recognition, the results of which were included in the final national report to the General Session of the UN.

Further study of the medical-genetic aspects of perinatal pathology, the study of the genotoxic environmental influence on the mother-fetus-newborn, the promotion of hygiene of conception, the search for and development of new methods of prenatal and postnatal diagnosis of cystic fibrosis and phenylketonuria in Kazakhstan, the three-level prevention of genetic disorders is a progressive approach to The formation of a healthy and competitive nation.