Molecular Diagnostic Evaluation of Deaf and Hard-of-Hearing Individuals

This chapter discusses the molecular diagnostic evaluation of deaf and hard-of-hearing (HOH) individuals. The deafness syndromes in this chapter are presented in their order of published frequency of observation in clinical settings that provide care for deaf/HOH individuals. These conditions also reflect those for which genetic testing is currently available. Strategies for genetic testing are also presented further. Deafness is genetically heterogeneous. From the standpoint of the molecular diagnostician, choosing genes to place in the laboratory menu for testing hearing-related genes could be based on a number of factors. With the rise of molecular diagnostic testing for deafness, the number of hearing and deaf individuals seeking genetic counseling and testing for deafness for diagnostic, carrier, and prenatal purposes is anticipated to increase. However, deaf and hearing individuals' attitudes toward, and use of genetic information related to, deafness can vary considerably because there are different perspectives on deafness. In light of differences in parental preferences for genetic testing for a trait with scientific and social complexities, it would be difficult to justify a mandatory program of genetic testing for deafness, or a program without appropriate pre- and post-test genetic counseling. Furthermore, because there are different perspectives on deafness, different perspectives on genetic technology, and different uses of genetic information, it is important to be cognizant that molecular diagnostics present a double-edged sword for deaf/HOH individuals and the Deaf community. © 2010