N H Robin1, C Dietz, J E Arnold, R J Smith. 1. Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH, USA. nhr2@po.cwru.edu
Abstract
OBJECTIVE: 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). 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 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: 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). 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 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. RESULTS: 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. CONCLUSIONS: 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.