Over the last 10 years in Russia, the child population revealed a 30 percent increase in congenital and hereditary pathology, characterized by high primary incidence of congenital malformations, deformations, chromosomal disorders and variation in the rates of this disease in children in the regions and Federal districts of the Russian Federation, which leads to the increase of needs and of accessibility of the population in the medical-genetic assistance.
The differences in the security of the population by Federal districts and constituent entities of the Russian
Federation medical-genetic counseling and medical genetics, which is caused by an imbalance between the
number of medical-genetic consultations on the Federal districts and the disproportion between the number
of doctors, geneticists and population of constituent entities of the Russian Federation.
Presents the regression model of the frequency of congenital malformations, deformations and chromosomal disorders in children and the number of medical-genetic consultations in the Federal districts of the
Russian Federation, allowing to establish the predictors of prevalence of congenital and hereditary pathology in children from 0 to 14 years.
Explored the opinions of patients about satisfaction with medical care in the medical-genetic consultations
at different levels as one of the criteria defining the quality of medical care in the medical-genetic consultation of the Russian Federation.
Presented by modern medico-social portrait of the patient seeking medical consultation, is characterized by
reproductive age (26–35 years old), employment (employees), social conditions (having separate housing),
material security (income 20–30 thousand rubles) and family structure (in a registered marriage and basically not having children).
Revealed a low level of awareness of patients for medico-genetic consultations at different levels about the
risk factors of congenital malformations, deformations and chromosomal disorders in children and methods of prevention of this pathology, which determines the later treatment of patients in the medical-genetic
consultation and evidence of need to improve literacy.
To improve the organization and quality of care in the medical-genetic consultations, developed guidelines
for physicians and instructions for patients.