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Pediatric Otolaryngologists' Knowledge and Understanding of Genetic Testing for Deafness
Nathaniel H. Robin, MD;
Christin Dietz;
James E. Arnold, MD;
Richard J. H. Smith, MD
Arch Otolaryngol Head Neck Surg. 2001;127:937-940.
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.
From the Departments of Genetics (Dr Robin and Ms Dietz), Pediatrics
(Drs Robin and Arnold), Otolaryngology and Head and Neck Surgery (Drs Robin
and Arnold), and Reproductive Biology (Dr Robin), Case Western Reserve University
School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio; and
the Department of Otolaryngology and Head and Neck Surgery and the Interdepartmental
Genetics PhD Program, University of Iowa, Iowa City (Dr Smith).
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