NASHVILLE: Researchers at Vanderbilt Health have found that combining genetic information with detailed hearing-test results may improve predictions of sensorineural hearing loss, a condition caused by damage to the inner ear, according to a study published in "JAMA Otolaryngology–Head & Neck Surgery".
The research team analyzed data from 16,000 participants to examine how genetic differences are linked to hearing loss. By combining genetic information with clinical audiometric tests, researchers found they could better identify people with hearing loss than by relying on standard medical diagnostic codes alone.
The findings could help researchers develop more accurate tools to identify people at risk of hearing loss before symptoms appear. However, further research is needed before such tools can be widely used in routine medical care.
The study was led by Andie DeFreese, a clinical audiologist and doctoral candidate in Vanderbilt University's Department of Hearing and Speech Sciences. The team included specialists in audiology, ear surgery and otolaryngology.
DeFreese said the long-term goal is to identify people who may develop hearing loss before the condition becomes noticeable. Hearing loss can be difficult to classify because patients experience it differently.
Although hearing tests can measure how well a person hears different sounds and frequencies, standard medical diagnostic codes may not capture the full details of an individual's condition.
These codes are commonly used in health care, including for billing and record-keeping. However, researchers said they may not accurately distinguish between people who have hearing loss and those who do not.
That limitation can affect genetic studies because researchers need accurate information about participants' health to identify genetic factors linked to a condition.
To address this problem, the team connected clinical hearing-test records with BioVU, Vanderbilt Health's biobank, which contains deidentified genetic samples and health information from consenting participants.
They then developed polygenic risk scores, which combine information from multiple genetic variants to estimate a person's likelihood of developing a particular condition.
The team tested these scores against genetic data from another population and found that scores based on detailed hearing information predicted hearing loss more accurately than scores based on diagnostic codes.
The results suggest that the quality of the health information used in genetic research can influence how well scientists identify people who may be at risk.
Researchers said the approach could eventually help doctors identify people who have a higher and lower genetic risk of hearing loss.
In the future, similar tools could potentially be incorporated into electronic health records or consumer genetic tests. Such tools might help health care providers identify people who could benefit from closer monitoring or further hearing assessments.
The team also plans to investigate whether genetic tools can predict more specific details, such as which sound frequencies a person may have difficulty hearing.
The researchers emphasized that these applications remain a goal for future work rather than established clinical services.
The U.S. Food and Drug Administration has approved a gene therapy for a specific form of genetic hearing loss, increasing interest in research that could improve the identification and treatment of patients with inherited hearing conditions.
