Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss

W E Nance; K S Arnos; J C Carey; G C Cunningham; R E Falk; T Finitzo; D Honrubia; B J Keats; W J Kimberling; G Lim; C C Morton; A Pandya; M K Pelias; J Skordas; R Smith; M S Watson; C Boyle; A Kenneson; A Donahue; M Lloyd-Puryear; M Mann; J Sheehan; K R White; Genetic Evaluation of Congenital Hearing Loss Expert Panel

doi:10.1097/00125817-200205000-00011

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Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss

Journal article

Open access

Peer reviewed

Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss

W E Nance, K S Arnos, J C Carey, G C Cunningham, R E Falk, T Finitzo, D Honrubia, B J Keats, W J Kimberling, G Lim, …

Genetics in medicine, Vol.4(3), pp.162-171

05/01/2002

DOI: 10.1097/00125817-200205000-00011

PMCID: PMC3110944

PMID: 12180152

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Abstract

The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Details

Title: Subtitle: Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss
Creators: W E Nance
K S Arnos
J C Carey - University of Utah
G C Cunningham
R E Falk - Cedars-Sinai Medical Center
T Finitzo
D Honrubia - Harvard University
B J Keats - Louisiana State University
W J Kimberling - Boys Town
G Lim - American College of Medical Genetics
C C Morton - Harvard University
A Pandya - Virginia Commonwealth University
M K Pelias - Louisiana State University
J Skordas - American College of Medical Genetics
R Smith
M S Watson
C Boyle - Centers for Disease Control and Prevention
A Kenneson - Centers for Disease Control and Prevention
A Donahue - National Institutes of Health
M Lloyd-Puryear - Health Resources and Services Administration
M Mann - American College of Medical Genetics
J Sheehan - American College of Medical Genetics
K R White - American College of Medical Genetics
Genetic Evaluation of Congenital Hearing Loss Expert Panel
Resource Type: Journal article
Publication Details: Genetics in medicine, Vol.4(3), pp.162-171
DOI: 10.1097/00125817-200205000-00011
PMID: 12180152
PMCID: PMC3110944
NLM abbreviation: Genet Med
ISSN: 1098-3600
eISSN: 1530-0366
Publisher: SPRINGERNATURE
Number of pages: 10
Language: English
Date published: 05/01/2002
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: 9984256927802771

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