Genetic counseling is all the problems faced by consulting doctors and counselors about the etiology, genetic mode, diagnosis, treatment, prevention and recurrence risk of their family genetic diseases.

(1) Make a correct diagnosis of the inquired diseases, so as to determine whether they are monogenic and polygenic diseases. The main methods to determine genetic diseases are family investigation and pedigree analysis. Combined with clinical characteristics, with the help of gene diagnosis, chromosome, sex chromosome analysis and biochemical analysis, a correct diagnosis can be made. If it is determined to be a genetic disease, it is necessary to further analyze whether the pathogenic gene is a new mutation or inherited by parents, which is of great significance to predict the risk rate. (2) Human genetic diseases can be roughly divided into three categories: monogenic genetic diseases, polygenic genetic diseases and chromosomal diseases. (3) Calculate the risk rate of disease recurrence. According to the degree of risk, human genetic diseases can be divided into three categories: one is the general risk rate, which refers to diseases mainly caused by environmental factors. The second category is mild risk rate, which refers to polygenic genetic diseases, which are caused by the interaction of genetic factors and environmental factors. The third category belongs to high risk rate. All monogenic genetic diseases and their parents are carriers of balanced translocation of chromosomes, and the risk of recurrence is high. (4) Before deciding to terminate pregnancy or carry out treatment, put forward countermeasures and suggestions to patients or their families, such as stopping childbearing, terminating pregnancy or making prenatal diagnosis.

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