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  • Title: Genetic testing and genetic counseling for deafness: the future is here.
    Author: Brunger JW, Matthews AL, Smith RH, Robin NH.
    Journal: Laryngoscope; 2001 Apr; 111(4 Pt 1):715-8. PubMed ID: 11359145.
    Abstract:
    Today, genetic testing is an option for individuals who have deafness and hard-of-hearing conditions (D/HOH) and their families for diagnosis and carrier detection. As more and more D/HOH genes are identified, genetic testing will become commonplace. However, genetic testing is different from other tests that physicians commonly order and therefore should be conducted differently. The objective of this study was to determine the best manner in which to conduct genetic testing for individuals who have D/HOH. Numerous studies have shown that pretest and post-test genetic counseling is beneficial for patients and families undergoing genetic testing for a variety of conditions. The need for counseling was emphasized by our recently completed study in which we found that the majority of individuals whose children had genetic testing for D/HOH had a poor understanding of many genetic issues concerning recurrence risks for D/HOH and the meaning of the test results. We think that genetic counseling should be an integral part of genetic testing for individuals who have D/HOH.
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