Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

A Eliot Shearer; Richard J H Smith

doi:10.1177/0194599815591156

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Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

Journal article

Open access

Peer reviewed

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

A Eliot Shearer and Richard J H Smith

Otolaryngology--head and neck surgery, Vol.153(2), pp.175-182

08/2015

DOI: 10.1177/0194599815591156

PMCID: PMC4743024

PMID: 26084827

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Abstract

To evaluate the use of new genetic sequencing techniques for comprehensive genetic testing for hearing loss. Articles were identified from PubMed and Google Scholar databases using pertinent search terms. Literature search identified 30 studies as candidates that met search criteria. Three studies were excluded, and 8 studies were found to be case reports. Twenty studies were included for review analysis, including 7 studies that evaluated controls and 16 studies that evaluated patients with unknown causes of hearing loss; 3 studies evaluated both controls and patients. In the 20 studies included in the review analysis, 426 control samples and 603 patients with unknown causes of hearing loss underwent comprehensive genetic diagnosis for hearing loss using massively parallel sequencing. Control analysis showed a sensitivity and specificity >99%, sufficient for clinical use of these tests. The overall diagnostic rate was 41% (range, 10%-83%) and varied based on several factors, including inheritance and prescreening prior to comprehensive testing. There were significant differences in platforms available with regard to the number and type of genes included and whether copy number variations were examined. Based on these results, comprehensive genetic testing should form the cornerstone of a tiered approach to clinical evaluation of patients with hearing loss along with history, physical examination, and audiometry and can determine further testing that may be required, if any. Comprehensive genetic testing has become the new standard of care for genetic testing for patients with sensorineural hearing loss.

Hearing Loss - genetics

Hearing Loss - diagnosis

Hearing Loss, Sensorineural - genetics

High-Throughput Nucleotide Sequencing

Humans

Sensitivity and Specificity

Details

Title: Subtitle: Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
Creators: A Eliot Shearer - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
Richard J H Smith - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA richard-smith@uiowa.edu
Resource Type: Journal article
Publication Details: Otolaryngology--head and neck surgery, Vol.153(2), pp.175-182
DOI: 10.1177/0194599815591156
PMID: 26084827
PMCID: PMC4743024
NLM abbreviation: Otolaryngol Head Neck Surg
ISSN: 0194-5998
eISSN: 1097-6817
Publisher: England
Grant note: R01 DC003544 / NIDCD NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS
Language: English
Date published: 08/2015
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: 9984007168902771

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