Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness

Objective: To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness an d hard of hearing (D/HOH). Methods: 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 m ade available to attendees of the 14th (1999) Annual Meeting of the America n Society of Pediatric Otolaryngology, Palm Desert, Calif. A series of ques tions asked to gauge the respondent's level of knowledge of genetics and he aring impairment addressed estimating recurrence risks for deaf and normal- hearing parents and the likelihood of detecting a mutation in connexin 26 i n specific clinical scenarios. Results: A total of 28 questionnaires were completed and returned. All resp ondents reported that they regularly saw patients for D/HOH. Almost half co mmonly refer these patients for genetic testing and counseling. Seventeen ( 71%) of 24 otolaryngologists stated they offered genetic testing in all sit uations, while 6 offered counseling only at parental request or to address recurrence risk issues. One otolaryngologist offered genetic testing if the re was a deaf sibling. Twelve (67%) of 18 offered pretest counseling, which was most frequently provided by a genetic counselor. Although 3 (19%) of 1 6 otolaryngologists provided the counseling themselves, 2 (13%) reported th at they and a genetic counselor provided the counseling. While 24 (89%) of the 27 correctly stated that nonsyndromic D/HOH is usually autosomal recess ive, recurrence risks were incorrectly estimated in several examples. Conclusions: While the surveyed pediatric otolaryngologists have a good kno wledge of genetics and genetic testing for D/HOH, recurrence risks were oft en inaccurate. Since D/HOH testing is clinically available, it is imperativ e that physicians are educated about genetics and genetic testing and are a ble to communicate this to their patients and their patients' families.