Medical genetics is a comprehensive subject which is closely combined with genetics and clinical medicine. Medical genetics takes human diseases and abnormal traits as the research object, and studies the relationship between diseases and heredity, as well as the genetic mode, etiology, pathogenesis, genetic prediction, diagnosis, treatment and preventive measures of diseases.

The study of diagnosis, prenatal diagnosis, prevention, genetic counseling and treatment of various clinical genetic diseases is called clinical genetics.

Medical genetics is not only closely related to biology, biochemistry, microbiology and immunology, pathology, pharmacology, histology and embryology, hygiene and other basic medicine. , and has penetrated into various clinical disciplines.