The attitude of family members with polycystic kidney disease to the disease and presymptomatic testing

BACKGROUND: The application of presymptomatic diagnosis of polycystic kidney disease (PKD) relies on satisfactory collaboration between the affected families and the team of health workers. The objective of the present study was to assess the initial level of knowledge of the disease and its hereditary character, the attitudes of families with PKD to presymptomatic and prenatal testing focused on methods of molecular genetics as well as attitudes to induced abortion if the gene of PKD is detected in the foetus. METHODS AND RESULTS: In a group of 104 subjects who had genetic examinations on account of familial PKD by means of questionnaires knowledge of the diagnosis, clinical and genetic prognosis and attitudes to presymptomatic and prenatal genetic tests were investigated. About 75% of the members of the group had adequate knowledge of the name of the disease and description of the clinical picture, 96.1% were informed on the hereditary character of the disease but only 1.9% knew details about the heredity. The scope of genetic risk was mentioned by some 30%, 51% were unable to express their opinion on the risk. A positive attitude to testing for the presence of the PKD gene was recorded in almost 100% if they themselves were concerned, 94% when their offspring under age was concerned but only 19.2% when the foetus was concerned. Only 5.3% of the respondents would agree with induced abortion in case of positive prenatal evidence of the PKD gene in the foetus and a few more respondents (14%) were opposed to abortion and some 80% were unable or unwilling to express their opinion. CONCLUSIONS: In members of families with PKD an important role is played by knowledge of clinical and genetic aspects of the disease. Genetic counselling must be part of comprehensive care and should always precede indication of molecular genetic methods (DNA analyses).