Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness

To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH).

A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires were made available to attendees of the 14th (1999) Annual Meeting of the American Society of Pediatric Otolaryngology, Palm Desert, Calif. A series of questions asked to gauge the respondent's level of knowledge of genetics and hearing impairment addressed estimating recurrence risks for deaf and normal-hearing parents and the likelihood of detecting a mutation in connexin 26 in specific clinical scenarios.

A total of 28 questionnaires were completed and returned. All respondents reported that they regularly saw patients for D/HOH. Almost half commonly refer these patients for genetic testing and counseling. Seventeen (71%) of 24 otolaryngologists stated they offered genetic testing in all situations, while 6 offered counseling only at parental request or to address recurrence risk issues. One otolaryngologist offered genetic testing if there was a deaf sibling. Twelve (67%) of 18 offered pretest counseling, which was most frequently provided by a genetic counselor. Although 3 (19%) of 16 otolaryngologists provided the counseling themselves, 2 (13%) reported that they and a genetic counselor provided the counseling. While 24 (89%) of the 27 correctly stated that nonsyndromic D/HOH is usually autosomal recessive, recurrence risks were incorrectly estimated in several examples.

While the surveyed pediatric otolaryngologists have a good knowledge of genetics and genetic testing for D/HOH, recurrence risks were often inaccurate. Since D/HOH testing is clinically available, it is imperative that physicians are educated about genetics and genetic testing and are able to communicate this to their patients and their patients' families.