Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genetic counseling
Genetic testing
Genetics evaluation
Hard-of-hearing
Hearing loss
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
23
03
2022
accepted:
28
03
2022
entrez:
8
7
2022
pubmed:
9
7
2022
medline:
14
7
2022
Statut:
ppublish
Résumé
Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard-of-hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health care services are provided in a linguistically and culturally sensitive manner. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.
Identifiants
pubmed: 35802133
pii: S1098-3600(22)00713-4
doi: 10.1016/j.gim.2022.03.018
pii:
doi:
Types de publication
Practice Guideline
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1392-1406Informations de copyright
Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest M.M.L., A.A.T., M.D., and H.L.R. serve as directors in not-for-profit clinical laboratories that offer genetic and genomic testing for hearing loss. M.M.L. is on the Scientific Advisory Board for Bayer HealthCare Pharmaceuticals Inc. A.M.S. works with the Molecular Otolaryngology and Renal Research Laboratories (MORL), a not-for-profit clinical genetic testing laboratory that provides genetic testing for hearing loss. The remaining authors declare no conflict of interest.