Journal article
Genetic screening for deafness
The Pediatric clinics of North America, Vol.50(2), pp.315-329
04/2003
DOI: 10.1016/S0031-3955(03)00026-9
PMID: 12809325
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.
Details
- Title: Subtitle
- Genetic screening for deafness
- Creators
- Richard J H Smith - University of IowaStephen Hone - University of Iowa
- Resource Type
- Journal article
- Publication Details
- The Pediatric clinics of North America, Vol.50(2), pp.315-329
- DOI
- 10.1016/S0031-3955(03)00026-9
- PMID
- 12809325
- ISSN
- 0031-3955
- eISSN
- 1557-8240
- Grant note
- R01-DC02842 / NIDCD NIH HHS R01-DC03544 / NIDCD NIH HHS
- Language
- English
- Date published
- 04/2003
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256835202771
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