The burden of genetic disease and attitudes towards gene testing in Alportsyndrome

We evaluated the burden of Alport syndrome (AS) and the attitudes towards g ene testing in patients with AS and their healthy family members from 37 fa milies using a multiple-choice questionnaire. We also evaluated how the dis ease affected the decision to have children and the information received ab out the syndrome. A total of 53 individuals responded to this questionnaire :. The risk of renal insufficiency and the uncertainty of the prognosis wer e 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%), pr eferably by a parent (74%). Almost all of the respondents (96%) had a posit ive attitude towards genetic research, which in the opinion of the majority should be aimed at better treatment and diagnosis of the disease rather th an developing methods for prenatal diagnosis (89% and 75% versus 43%). AS s eems to be well tolerated; 28% and 19% of the respondents found abortion ac ceptable in cases of an affected male and female fetus, respectively. Our s tudy indicates a desire for prenatal tests in order to predict the health o f a future child rather than for selective abortion.