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Hearing

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.

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Related Experiment Video

Updated: May 23, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.

Sonia M Scaria¹, Jacqueline Harris¹, Noura Ismail Mohamad¹

¹Department of Otolaryngology-Head and Neck Surgery, University of California-San Francisco, San Francisco, California, USA.

Ear and Hearing

|March 12, 2025

Summary

This summary is machine-generated.

Genetic testing for sensorineural hearing loss in underrepresented minority (URM) children shows lower diagnostic rates. Applying specific guidelines improved variant classification, reducing disparities and enhancing care for URM populations.

Keywords:

Genetics Health equity Hearing

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Area of Science:

Genetics
Medical Diagnostics
Public Health

Background:

Sensorineural hearing loss (SNHL) affects diverse populations, with underrepresented minorities (URM) facing disparities in genetic diagnosis.
Genetic testing for SNHL is crucial for diagnosis and intervention, but its efficacy varies across different ethnic groups.

Purpose of the Study:

To evaluate the utility of hearing loss-specific American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines in improving genetic diagnosis rates for URM children.
To address the diagnostic disparity in genetic testing for URM populations with SNHL.

Main Methods:

Analysis of 2740 variants from 715 SNHL patients, including 1275 variants from 348 URM patients.
Application of ACMG/AMP variant interpretation guidelines, enhanced with hearing loss-specific criteria, to reclassify variants of uncertain significance (VUSs).
Utilized case-control analysis relative to ancestry-matched controls and computational prediction for variant reclassification.

Main Results:

Initially, only 15.52% of variants in the URM cohort were classified as likely pathogenic.
Hearing loss-specific guidelines enabled reclassification of 19 multihit VUSs, with potential for more with parental testing.
Many VUSs, rare or absent in ancestry-matched databases, could be clarified with additional data, highlighting potential for improved diagnosis.

Conclusions:

The study confirms the effectiveness of applying HL-specific ACMG/AMP classification to URM variants.
This approach significantly clarifies VUS pathogenicity, improving genetic testing accuracy for URM patients.
Enhanced accuracy supports improved clinical care and timely intervention for URM children with SNHL.