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

Otolaryngol Head Neck Surg. 2015 Aug;153(2):175-82. doi: 10.1177/0194599815591156. Epub 2015 Jun 17.


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.

Keywords: deafness; genetic testing; genomics; hearing loss.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Hearing Loss / diagnosis*
  • Hearing Loss / genetics*
  • Hearing Loss, Sensorineural / genetics
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Sensitivity and Specificity