title: Genetic screening for deafness.
abstract: Genetic testing for deafness has become a reality. It has changed the paradigm for evaluating deaf and hard-of-hearing persons and will be used by physicians for diagnostic purposes and as a basis for treatment and management options. Although mutation screening is currently available for only a limited number of genes, in these specific instances, diagnosis, carrier detection, and reproductive risk counseling can be provided. In the coming years there will be an expansion of the role of genetic testing and counseling will not be limited to reproductive issues. Treatment and management decisions will be made based on specific genetic diagnoses. Although genetic testing may be a confusing service for the practicing otolaryngologist, it is an important part of medical care. New discoveries and technologies will expand and increase the complexity of genetic testing options and it will become the responsibility of otolaryngologists to familiarize themselves with current discoveries and accepted protocols for genetic testing.
authors.affiliation: Department of Otolaryngology, Molecular Otolaryngology Research Labs, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA. richard-smith@uiowa.edu
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Stephen
authors.initials: S
authors.lastname: Hone
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy; D015870:Gene Expression; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D015995:Prevalence
chemical_list: D017630:Connexins; D008565:Membrane Proteins; C114987:wolframin protein; D000072259:Connexin 26