What is genetics: description, main directions, indications, contraindications

Genetics is a field of clinical medicine that deals with the issues of variation of organisms, genes, variability and heredity. Genetics includes genetic analysis, molecular, population and evolutionary genetics, genetic engineering and other sections.

Symptoms that require a visit to a geneticist

Genetics studies hereditary pathologies, information and variability of genes. A geneticist is called upon to help if the following conditions are detected:

• protein levels in the blood are higher or lower than normal;
• congenital defects;
• consanguineous marriage;
• hereditary diseases.

Diseases that genetics studies

Geneticists specialize in working with muscular dystrophy, mental retardation syndromes and Down syndromes, and also study:

• diabetes mellitus;
• diseases of the central nervous system (CNS);
• oncology;
• difficulties with conception, childbirth, miscarriages and frozen pregnancy;
• congenital defects in development and diseases;
• endocrine diseases;
• spermatogenesis disorders;
• changes in DNA or RNA regions - molecules with encoded genetic information.

Diagnostics and treatment measures in genetics

When managing patients, as well as to identify concomitant hereditary pathologies, genetics uses the following procedures:

• analysis - hybridological and human pedigree;
• cordocentesis (collection of umbilical cord blood and puncture of the umbilical cord of the fetus);
• gene therapy;
• chorionic biopsy (collection of cells from the placenta);
• cytogenetic examination of the fetus, blood, chorion, bone brain;
• genetic testing;
• placentocentesis;
• DNA testing.

Genetics uses methods of biochemistry, biophysics and physiology:

• study of the functionality of the chromosome set and the mechanisms of self-reproduction of chromosomes during cell division;
• calculation of genetic risks;
• phenogenetic analysis (assessment of gene action and its manifestations), which includes transplantation of hereditarily different tissues, transplantation of nuclei, principles of tissue culture with the formation of clones from single living somatic cells.

Genetics operates with popular diagnostic methods: assessment of the chromosome set, clinical and genealogical method, amniocentesis (taking amniotic fluid), placentocentesis and mathematical statistics.