Genetic Testing For Hearing Loss

Learn about genetic testing for hearing loss, interpret the results, find centers specializing in genetic testing, understand the costs, and explore gene therapy.

Why Genetic Testing for Hearing Loss?

If you or your child has been diagnosed with hearing loss or a hearing impairment, you may have heard the question, "Would you like to obtain genetic testing to find out the origin of their hearing loss?" The Centers for Disease Control (CDC) has put together a list of reasons why it is beneficial to proceed with genetic testing for you or your child.

To learn whether you have a genetic condition that runs in your family before you have symptoms

To learn about the chance a current or future pregnancy will have a genetic condition

To diagnose a genetic condition if you or your child has symptoms

Who Does Genetic Testing Benefit?

Child
Parent
Future Children/Grandchildren
Yourself
Partners
Family members

Why Wouldn't Someone Pursue Genetic Testing?

Some people are hesitant to pursue genetic testing because of many reasons as listed below. Most of these have ways around the problem or ways to make it easier on families to overcome these barriers that may stop them.

Cost
Fear of the Unknown
Not knowing how it works (see "What Happens When You Get Genetic Testing")
They may not know the impact on future children
Not knowing about comorbities (hearing loss often has other issues associated with it)
Don't know that it helps determine what the best outcome is
Don't know that it can help see what treatment option is the best if any
Don't know that it can help decide what communication method to use that would best help

What Happens When You Get Genetic Testing?

Genetic testing can be done in many ways. The most common are with blood or cheek swabs but they can also be done on hair, saliva, skin or other tissues. The sample is then sent to a laboratory where scientists analyze it. Genetic testing for hearing loss has almost no risks tied to it. If you have more questions or concerns you can always talk to your doctor, ENT, or genetic counselor. Two of the most common methods of genetic testing are easy; their processes are described below.

1. Blood sample. A member of your health care team takes the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby's heel.

2. Cheek swab. For some tests, a swab sample from the inside of your cheek is collected for genetic testing.

Both can be done very quickly and you can receive the results in a few weeks time most of the time. When you get results you can talk with your doctor or other genetic specialists to help figure out how to interpret these results and the best path to take from here on out.

Understanding Genetic Testing Results Related to Hearing Loss

Here are some of the best resources for understanding genetic testing or a genetic diagnosis related to sensorineural hearing loss, congenital hearing loss, and specifically non-syndromic hearing loss like Transmembrane Serine Protease 3 / TMPRSS3.

CS Motts Children's Hospital (University of Michigan Health) Genetics and Hearing Loss

Boystown National Research Hospital Genetic Hearing Loss - (Babyhearing.org)

Non-Syndromic Hearing Loss - TMPRSS3 - (Babyhearing.org)

What is Genetic Testing - CDC

The Parents Guide to Genetics and Hearing Loss - CDC

Hearing Loss Association of America - Genetics and Hearing Loss

Boston Medical Center

Genetic Hearing Loss - Audiology - (Hearing Problems)

Centers Specializing in Hearing Loss Genetic Testing

Your hospital or clinic will likely have a relationship with a genetic testing center specializing in hearing loss and provide you with genetic counseling. If not, you may want to contact one of these clinics directly.

University of Iowa MORL (Hearing Loss Genetic Testing Available at the MORL)

University of Iowa - Audiogene - Predicts genotype of hearing loss based on Audiograms. (Does not currently include TMPRSS3)

University of Iowa's Deafness Variation Database - A comprehensive guide to genetic variation in genes known to be associated with deafness.

Cincinnati Children's (Genetic Testing For Hearing Loss)

Partner's Healthcare (Affiliated Clinical Lab of Harvard Medical School Center for Hereditary Deafness)

Mayo Clinic (AudioloGene Hereditary Hearing Loss Panel)

Invitae and Genedx are two major labs (see below) that offer testing, handle the billing to insurance, and cap the out of pocket costs:

Invitae

Genedx

Genedx Hearing Loss Panel

Cost of Genetic Testing

The cost of genetic testing depends on multiple different factors, such as where you get tested, what you get tested for, how many tests they run, what insurance you have and more. One university clinic we know of has an average cost of $1,800. The test covers all hearing loss genes and takes around 4-6 weeks for results.

Most laboratories use a sequencing technology called next generation sequencing (also called massively parallel sequencing) which allows detection of thousands of different variants in over 124 genes that can lead to hearing loss.

Sometimes you can get testing done for free if you are in a study or if it is a rare gene that they suspect you have (see University of Iowa's clinic). An ENT, otolaryngologist, pediatric otolaryngologist, and/or genetic counselor can help you navigate and understand the options.

Hearing Loss Gene Therapy Companies/Organizations

In the future, gene therapy will be an option for people. We are tracking the current companies, organizations, and news about gene therapy. Gene therapy could give people the potential to restore, improve, and preserve their hearing if they choose to do so. There are currently no TMPRSS3 clinical trials for gene therapy, however this may be changing soon.

Acousia Therapeutics - Committed to identifying and developing novel compounds (small molecules) to preserve and enhance natural hearing for patients suffering from sensorineural hearing loss.

Akouos - Advancing Precision Genetic Medicines with the Potential to Restore, Improve, and Preserve Hearing. Owned by Eli Lilly. Testing (and possibly free testing) Resources.

Decibel Therapeutics - Exclusively focused on discovering and developing transformative treatments to restore and improve hearing and balance. Owned by Regeneron.

Frequency - A clinical-stage biotechnology company focused on restoring function by developing therapeutics that activate a person’s innate regenerative potential.

Myrtelle - A gene therapy company whose mission is to transform the treatment of neurological diseases. Involved in DFNB8 research.

Otovia Therapeutics - A biotech company in China focusing on innovative drugs for diseases related to inner ear hearing loss.

Rescue Hearing - The RHI mission is to “Eliminate Hearing Loss as a Chronic Condition”. Involved in developing TMPRSS3 gene therapies.

Salubritas Therapeutics - Developing treatments for hearing loss including genome editing, inner ear regeneration, novel delivery, and gene therapy.

Sensorian - Offer innovative therapeutic solutions providing long-term improvements to people living with, or at risk of, inner ear disorders.

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Inner Ear Gene Therapy Program - This laboratory, formerly part of the NIDCD Otolaryngology Surgeon-Scientist Program (OSSP), is focused on developing gene therapy as a treatment option for hearing loss and dizziness.