The modern definition of the genetic counselling and its history as well as general approach of the genetic counselling and the estimate of its efficiency are shown in this review. It is emphasized the role of genetic counselors' psychological and pedagogical skills is important for efficiency of the genetic counseling. Also it is necessary to attract professional psychologists in the genetics educational process.

The review discusses the relationship of genetic markers and nutrients regarding their importance for the development of common diseases. The article gives examples of genetically determined individual differences in the level of a number of nutrients; involvement of nutrients in the metabolic pathways (particularly in folate-dependent one-carbon metabolism pathway) and in the function of different genes; as well as data on associations of nutrients and genes involved in their regulation with diseases of multifactorial nature.

The article presents our experience with the method of array comparative genomic hybridization (aCGH) during examining fetuses with increasing of the nuchal translucency and normal karyotype in the I trimester of pregnancy. On the basis of recommended algorithms pathogenic and likely pathogenic copy number variation (CNV) were identified in 8.3% cases. One CNV was presented as a rare 13q deletion syndrome. Pregnancy with this syndrome was terminated due to association with severe malformations of the fetus. CGH method can be applied an as essential complement to standard cytogenetic methods or its alternative in some cases.

Results of the molecular-genetic polymorphism study (ACE, CHIT1, SIRT1, NOS3 and PON1 genes) in a group of patients suffering from vibration syndrome (VS) are presented. The findings were compared with those obtained from a control group mainly of Russian nationality. Similarities in the frequencies of ACE, CHIT1 and NOS3 factors were determined between group with VS and cardiovascular pathology patients. We observed significant differences in frequencies of the ACE and NOS3 genetic markers between VS and the control group. A distinctive character of CHIT1 genotype distribution was observed in patients with VS. The previously described connection between VS and SIRT1 genotypes frequencies was not confirmed. 

Bronchial asthma is clinically heterogeneous multifactorial pathology with genetic component. Association of 23 polymorphic variants in 17 genes with asthma and asthma endophenotypes was studied. The association for the 9 genes (IL12A, LTA, TNF, TNFRSF1B, IFNGR2, NOS3, AGTR1, GNB3, PPP3R1) with asthma and asthma related phenotypes has been shown. Most gene products associated with bronchial asthma and asthma related phenotypes are involved in realization of two basic pathways of asthma pathogenesis, i.e. inflammation and bronchial spasm. We found that clinical phenotypes of the mild, intermediate and severe asthma have their own genetic features.

There has been performed analysis of the presence of mutagenic allele «1691А» gene FV Leiden and C677T gene MTGFR among the women with preterm labor. The carriers of mutant allele «1691А» in the hetero- or homozygous state among the women with preterm labors accounted for 8,5% that corresponded to 4,5 fold increase of the risk factor for development of venous thrombosis in comparison with control group (OR = 4.64; 95% CI 0.98—22.02). Differences in the frequency of prevalence of heterozygous variant of polymorphism C677T gene MTGFR between general groups of women with preterm labor and controls had statistic unreliable character. However, the carrying of the homozygous allele of this marker defined more than 4-fold increase in risk of the development of the venous thrombosis in comparison with control group (OR = 4.08: 95%CI 0,05—19,7), that indicated about participation of this marker in the development of venous thrombosis.

Hypophosphatasia (HPP) is rare inborn error of metabolism caused by absent or virtually absent alkaline phosphatase (ALP) enzyme activity. HPP involves congenital profound skeletal hypomineralization leading to rickets or osteomalacia. The effective enzyme replacement therapy (ERT) for HPP was developed during last years. The guideline for diagnosis and management of patients with hPpwas elaborated by Russian panel of experts. The guideline includes the current classification, the description of specific mechanisms of pathogenesis and the diagnostic algorithm of HPP. The recommendations for optimal supportive care as well as the first results of ERT for HPP were presented in this guideline.