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Ryan D. Duncan, MD; Sandra Prucka, MS; Brian J. Wiatrak, MD; Richard J. H. Smith, MD, PhD; Nathaniel H. Robin, MD

Arch Otolaryngol Head Neck Surg. 2007;133(3):231-236.

Objective  To assess the use of genetic testing by pediatric otolaryngologists in evaluating a child with prelingual sensorineural hearing impairment (SNHI).

Design  Questionnaire on the use of genetic testing in the evaluation of prelingual SNHI was made available to pediatric otolaryngologists through the American Society of Pediatric Otolaryngology (ASPO) Web site (http://www.aspo.us). Each ASPO member was invited by e-mail to complete the questionnaire.

Participants  Sixty-three ASPO members.

Results  Forty-two (69%) of 61 respondents indicated that they use genetic testing of the connexin 26 (Cx26) gene (GJB2) as an initial test in their workup of prelingual SNHI, and 30 (71%) of 42 reported that they provide genetic counseling for their patients and their families. However, 17 (45%) of 38 respondents answered questions regarding recurrence risks incorrectly or stated that they did not know the correct response. In addition, 7 (12%) of 60 respondents reported that they do not use DNA-based testing at any point in their workup.

Conclusions  Many pediatric otolaryngologists use DNA-based testing in their evaluation of prelingual SNHI. However, many pediatric otolaryngologists do not have an adequate knowledge of the implications of genetic testing. Because it will take on an increasingly large role in clinical practice, pediatric otolaryngologists must be familiar with current genetic testing, counseling, and treatment recommendations. As these results demonstrate, such knowledge is still lacking in this physician population.

Author Affiliations: Departments of Surgery (Drs Duncan and Wiatrak), Genetics (Ms Prucka and Dr Robin), and Pediatrics (Dr Robin), University of Alabama at Birmingham; and Departments of Internal Medicine, Otolaryngology, and Pediatrics, University of Iowa, Iowa City (Dr Smith).