Guidelines for audiologists on the benefits and limitations of genetic testing

Abstract

Purpose: This tutorial provides information to aid audiologists in determining when a referral for a genetics evaluation is appropriate for a patient with hearing loss. Direction is given on discussing the benefits and limitations of genetic testing with parents of children with hearing loss. Method: Genetic patterns of inheritance are reviewed, particularly in reference to syndromic and nonsyndromic forms of hearing loss. A review of pertinent literature was performed. Conclusion: Audiologists are in a unique position to facilitate investigation into the etiology of a patient’s hearing loss. This is of high importance in genetic etiologies because the diagnosis can provide information on recurrence risks and other potential health implications. Suggestions are made to help audiologists recognize when a genetics referral is warranted, counsel patients and their parents about the benefits and limitations of genetic testing, and interpret genetic test results.