Summary. Investigations in the field of human and medical genetics were started in Lithuania in the third decade of the 20th century. They were virtually stopped during the Soviet occupation and started to recover just in the 7th decade. The first genetic counselling office in Lithuania was founded in 1971. During the subsequent 30 years it developed into present-day Human Genetics Centre of Santariškių Clinics of Vilnius University Hospital and Human Genetics Centre of the Faculty of Medicine of Vilnius University. The main objective of genetic counselling is the prophylaxis of congenital defects and inherited diseases in Lithuania. In our county, genetic councelling is performed by clinical geneticists, while medical geneticists participate in diagnosing gene and chromosomal disorders. Although genetic counselling is a form of clinical practice, it is closely connected with scientific research in the field of genetic peculiarities of the Lithuanian population and the basis of inherited diseases as well as with specialists training.