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Genetic testing and genetic counseling for deafness: the future is here
J W Brunger1, A L Matthews, R H Smith
1Departments of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio, USA.
The Laryngoscope
|May 19, 2001
Summary
Genetic testing for deafness and hard-of-hearing (D/HOH) is becoming more common. Pre- and post-test genetic counseling is crucial for understanding D/HOH genetic issues and test results.
Area of Science:
- Genetics
- Audiology
- Medical Counseling
Background:
- Genetic testing is increasingly available for diagnosing deafness and hard-of-hearing (D/HOH) conditions and for carrier detection in families.
- The identification of more D/HOH-related genes suggests genetic testing will become a standard diagnostic tool.
Purpose of the Study:
- To determine the optimal approach for conducting genetic testing in individuals with D/HOH conditions.
- To emphasize the importance of genetic counseling in the context of D/HOH genetic testing.
Main Methods:
- Review of existing literature on the benefits of pretest and post-test genetic counseling for various genetic conditions.
- Analysis of findings from a recently completed study involving families undergoing genetic testing for D/HOH.
Main Results:
- A majority of individuals whose children underwent genetic testing for D/HOH demonstrated a limited understanding of genetic concepts.
- Key areas of misunderstanding included recurrence risks for D/HOH and the implications of genetic test results.
Conclusions:
- Genetic counseling should be an integral component of the genetic testing process for individuals with D/HOH conditions.
- Effective genetic counseling is essential for improving patient and family comprehension of genetic testing outcomes and risks.
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