Volume 153, Issue 2 p. 175-182

Review Article

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

The New Standard of Care

A. Eliot Shearer MD, PhD,

A. Eliot Shearer MD, PhD

Department of Otolaryngology—Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

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Richard J. H. Smith MD,

Corresponding Author

Richard J. H. Smith MD

[email protected]

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 J. H. Smith, MD, Department of Otolaryngology—Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA. Email: [email protected]Search for more papers by this author

A. Eliot Shearer MD, PhD,

A. Eliot Shearer MD, PhD

Department of Otolaryngology—Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

Search for more papers by this author

Richard J. H. Smith MD,

Corresponding Author

Richard J. H. Smith MD

[email protected]

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

First published: 17 June 2015

https://doi.org/10.1177/0194599815591156

Citations: 4

Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article.

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Abstract

Objective

To evaluate the use of new genetic sequencing techniques for comprehensive genetic testing for hearing loss.

Data Sources

Articles were identified from PubMed and Google Scholar databases using pertinent search terms.

Review Methods

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.

Conclusions

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.

Implications for Practice

Comprehensive genetic testing has become the new standard of care for genetic testing for patients with sensorineural hearing loss.

References

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Citing Literature

Volume153, Issue2

August 2015

Pages 175-182

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

The New Standard of Care

Abstract

Objective

Data Sources

Review Methods

Conclusions

Implications for Practice

References

Citing Literature

References

Information

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Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

The New Standard of Care

Abstract

Objective

Data Sources

Review Methods

Conclusions

Implications for Practice

References

Citing Literature

References

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