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Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
Open accessAbstract
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.
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“For patients with symptoms that indicate a probable monogenic aeti-ology (such as retinal degeneration, hearing loss or cardiomyopathy), targeted panels are typically the platform of choice133, although they are increasingly performed on a more extensive sequence backbone.”
From A brief history of human disease genetics (2020) · cites this paper as [133]
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Metadata
- Authors
- Shearer, A. E., & Smith, R. J. H.
- Affiliations
- University of Iowa (US)
- Corresponding author
- Smith, Richard J. H.
- Venue
- Otolaryngology–Head and Neck Surgery
- Publisher
- Wiley
- Published
- 2015-06-17
- Volume
- 153
- Issue
- 2
- Pages
- 175-182
- ISSN
- 0161-6439 (ISSN-L)
- 0194-5998
- 1097-6817
- PMC
- PMC4743024
- OpenAlex
- W1952583930
- Cited by
- 144
- References
- 49
- Citations by year
- 2026: 11 · 2025: 10 · 2024: 9 · 2023: 15 · 2022: 12 · 2021: 14 · 2020: 19 · 2019: 17 · 2018: 13 · 2017: 16 · 2016: 7 · 2015: 1
- FWCI
- 1.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Otolaryngology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Deafness and Other Communication Disorders (RO1s DC003544, DC002842, DC012049)
- Topics
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Neurology › Vestibular and auditory disorders
- Keywords
- hearing loss, genetic diagnosis, next-generation sequencing, sensorineural hearing loss, copy number variation, diagnostic yield, mode of inheritance
- MeSH terms
- Hearing Loss, Sensorineural, Humans, Sensitivity and Specificity, Hearing Loss, High-Throughput Nucleotide Sequencing
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