What do patients with hereditary deafness think of genetic studies?

We conducted an attitude survey for patients with hearing loss (HL). The aim of this study was to investigate the opinions of patients or parents of deaf children regarding the deafness gene, genetic testing and a gene related HL.

A questionnaire was sent to 201 individuals who visited the Department of Otolaryngology, Tokyo Medical and Dental University and who received genetic testing for HL from September 2000 to January 2006. There were 14 questions in the questionnaire that were classified into four topics related to a deafness gene and hereditary HL, genetic testing, outpatient department of medical genetics/genetic counseling, and the results of genetic testing. The study consisted of 140 respondents (70%) of 201 administered surveys.

Before visiting our department, only 36% of the respondents were aware that a genetic factor was a cause of HL. Despite our explanation of a deafness gene and hereditary HL, 23% of 134 respondents answered that they had not received any such explanation. Furthermore, 14% of the 103 respondents who had answered that they receive the explanation, however, they did not fully understand it. Thirty-nine percent of the respondents made their own decision regarding the genetic testing, whereas 53.5% received the tests upon the advice of a physician or family member. In contrast, 91% of the respondents had a positive attitude towards other future genetic tests. The existence of the genetic outpatient department or genetic counseling has been seldom acknowledged, but upon learning of its availability, nearly one third of the respondents indicated that they would like to receive genetic counseling. Although no respondent had social and/or family problems after being informed that they had a deafness gene mutation, some respondents worried about the result.

The results of the survey suggested that the vast majority of the respondents were satisfied with genetic testing for HL and that the barriers to take the genetic test were less than expected. However, some respondents have a negative attitude towards genetic testing and counseling. Furthermore, the issue of disclosure may be burdensome to patients.