Pediatric otolaryngologists' use of genetic testing

Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):231-6. doi: 10.1001/archotol.133.3.231.


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 ( 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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • Genetic Counseling / statistics & numerical data*
  • Genetic Testing / statistics & numerical data*
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Mutation
  • Otolaryngology*
  • Pediatrics*
  • Referral and Consultation
  • Surveys and Questionnaires


  • Connexins
  • GJB2 protein, human
  • Connexin 26