The burden of genetic disease and attitudes towards gene testing in Alport syndrome

We evaluated the burden of Alport syndrome (AS) and the attitudes towards gene testing in patients with AS and their healthy family members from 37 families using a multiple-choice questionnaire. We also evaluated how the disease affected the decision to have children and the information received about the syndrome. A total of 53 individuals responded to this questionnaire. The risk of renal insufficiency and the uncertainty of the prognosis were considered the worst components of AS. Many of the respondents felt that children should be informed about AS as soon as they start asking (45%), preferably by a parent (74%). Almost all of the respondents (96%) had a positive attitude towards genetic research, which in the opinion of the majority should be aimed at better treatment and diagnosis of the disease rather than developing methods for prenatal diagnosis (89% and 75% versus 43%). AS seems to be well tolerated; 28% and 19% of the respondents found abortion acceptable in cases of an affected male and female fetus, respectively. Our study indicates a desire for prenatal tests in order to predict the health of a future child rather than for selective abortion.