Abstract: Objective  To investigate the awareness and willingness to block the genetic disease by assisted reproduction technology in the family members of autosomal dominant polycystic kidney disease (ADPKD) patients, and the effect of education about genetic disease and reproductive intervention technology to these family members.  Methods  The ADPKD patients on dialysis were recruited from blood or peritoneal dialysis centers. Their family members aged 18-45 years old were surveyed by questionnaire, and re-surveyed after giving them genetic disease and reproductive intervention education.  Results  The whole questionnaire was completed in 40 family members, in which 18 were males and 22 were females with the mean age of 33.4±6.8 years, and 30 family members were diagnosed as ADPKD patients. After the genetic disease and reproductive intervention education, the awareness of ADPKD knowledge in these family members improved, the awareness rate of early diagnosis before renal cysts increased from 57.5% to 95.0% (c2=15.531, P＜0.001), and that of the possibility to breed healthy offspring by reproductive intervention increased from 55.0% to 92.5% (c2=14.526, P＜0.001). The awareness rate of the polycystic liver, waist pain, and hereditary pattern of ADPKD was >80% before the education. The acceptance rate of genetic testing and preimplantation genetic testing (PGT) was >85%. After the education, the rate of self-assessed understanding about genetic testing increased from 57.5% to 85.0% (c2=7.384, P=0.007), and the rate of self-assessed understanding about PGT increased from 52.5% to 77.5% (c2=5.495, P=0.019).  Conclusion  To effectively block the transmission of ADPKD by reproduction intervention, the advanced genetic counseling education in this study was precisely focused on the family members of dialysis ADPKD patients. Our results provide useful experiences of ADPKD prevention for nephrologists and dialysis nurses. 

Key words: Autosomal dominant polycystic kidney disease, Popular science, Early diagnosis, Blockage of gene mutation, Willingness