Aims of medical genetics

Medical genetics is an independent branch of medicine. Medical genetics is interdisciplinary field, dealing with problems that affect any system/organ/tissue of the body. Anyway, medical genetics is usually interested in those types of pathologies:

• Monogenic diseases (inherited diseases, hereditary diseases, familiar diseases etc).
• Congenital malformations (birth defects, congenital anomalies, inborn errors of development).
• Chromosomal aberrations (including chromosomal syndromes).

The main aims of medical genetics are as follows:

• Diagnostics
• Prevention
• Treatment
• Surveillance

Right now, the medical genetics is primary the diagnostic branch of medicine. In individuals, where the possibility of "genetics" diagnosis is considered, the geneticist shall perform clinical and (if necessesary) also the genetic laboratory (cytogenetic and/or molecular genetic) examination. Geneticists also provide genetic counselling - that means they provide the information to the patients (probands) regarding their diagnosis, possibilities of prevention and/or treatment and also regarding the risks for other family members.