Pediatric otolaryngologists' use of genetic testing

Ryan D Duncan; Sandra Prucka; Brian J Wiatrak; Richard J H Smith; Nathaniel H Robin

doi:10.1001/archotol.133.3.231

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Pediatric otolaryngologists' use of genetic testing

Journal article

Open access

Peer reviewed

Pediatric otolaryngologists' use of genetic testing

Ryan D Duncan, Sandra Prucka, Brian J Wiatrak, Richard J H Smith and Nathaniel H Robin

Archives of otolaryngology--head & neck surgery, Vol.133(3), pp.231-236

03/2007

DOI: 10.1001/archotol.133.3.231

PMID: 17372079

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Abstract

To assess the use of genetic testing by pediatric otolaryngologists in evaluating a child with prelingual sensorineural hearing impairment (SNHI). 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 (http://www.aspo.us). Each ASPO member was invited by e-mail to complete the questionnaire. Sixty-three ASPO members. 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. 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.

Pediatrics

Hearing Loss, Sensorineural - congenital

Humans

Connexins - genetics

Otolaryngology

Hearing Loss, Sensorineural - genetics

Connexin 26

Genetic Counseling - utilization

Hearing Loss, Sensorineural - diagnosis

Genetic Testing - utilization

Surveys and Questionnaires

Referral and Consultation

Mutation

Details

Title: Subtitle: Pediatric otolaryngologists' use of genetic testing
Creators: Ryan D Duncan - Department of Surgery, University of Alabama at Birmingham, USA
Sandra Prucka
Brian J Wiatrak
Richard J H Smith
Nathaniel H Robin
Resource Type: Journal article
Publication Details: Archives of otolaryngology--head & neck surgery, Vol.133(3), pp.231-236
DOI: 10.1001/archotol.133.3.231
PMID: 17372079
NLM abbreviation: Arch Otolaryngol Head Neck Surg
ISSN: 0886-4470
eISSN: 1538-361X
Publisher: American Medical Association; United States
Grant note: R01 DC03544 / NIDCD NIH HHS R03 DC006217-01 / NIDCD NIH HHS
Language: English
Date published: 03/2007
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006418802771

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