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J Genet Couns. 2008 Jun;17(3):252-60. doi: 10.1007/s10897-007-9143-y. Epub 2008 Feb 5.

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

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  • 1Department of Human Genetics and Pediatrics, Medical College of Virginia at Virginia Commonwealth University, P.O. Box 980033, Richmond, VA 23298, USA.


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.

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