Impact of genetic advances and testing for hearing loss: results from a national consumer survey.

Hearing loss is a common neuro-sensory deficit; nearly 50% of children with hearing loss have a genetic etiology. With the discovery of 40 genes and more than 100 loci involved in hearing loss, genetic testing is becoming more widely available. The information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults, based on their prior knowledge and understanding of these advances. It is therefore important to clarify the feelings of these potential consumers towards genetic services for hearing loss and understand their goals for genetic testing. The present study evaluates the feelings of consumers towards the advances in the genetics of hearing loss, the motivations for pursuing testing, and the perceived impact testing may have on their lives. We surveyed 808 parents of children with hearing loss nationally and 156 young deaf adults at Gallaudet University. In this study, learning the etiology of the hearing loss was the most commonly cited motivation for pursuing genetic testing and for parents was the most commonly cited outcome that genetic testing may have on their children's lives. Culturally Deaf respondents were less likely to believe that genetic testing will impact their lives or their children's lives and were less likely to report positive feelings about advances in the genetics of hearing loss. Cultural affiliation and genetic testing status, rather than hearing status, contributed more to the participants' responses.

Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss.

Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.