Diagnosing Adult-Onset Genetic Hearing Loss

At the Center for Adult-Onset Hearing Loss, our mission is to identify and study the genetic causes of adult-onset hearing loss through genetic testing.

Genetic Testing for Hearing Loss

80 percent of people with hearing loss are diagnosed after the second decade of life, but few undergo genetic testing even when a genetic cause is suspected from family history.

Patients at Penn Medicine's Center for Adult-Onset Hearing Loss have the option of undergoing genetic testing to understand whether they have genetic variants associated with hearing loss.

Through this process, the center may also be able to identify novel genetic variants associated with hearing loss, which could help in the diagnosis of future patients who have hearing loss. This data will contribute to the creation of new genetic hearing loss treatments to prevent and potentially cure the condition.

Benefits of Genetic Testing for Hereditary Hearing Loss

The results of genetic testing for adult-onset hearing loss may help:

• Identify a genetic cause for your hearing loss.
• Clarify the diagnosis of a genetic syndrome and guide or adjust your medical care accordingly.
• Provide information about prognosis.
• Identify the genetic variation causing hearing loss as the first step in developing a cure.
• Inform your family members of their potential risk of developing hearing loss.

Are There Risks to Genetic Testing for Hearing Loss?

Potential risks of genetic testing are as follows:

• Genetic testing does not reveal the cause of every patient's hearing loss.
• Not all genetic variants are well understood. You could receive an "uncertain" result.
• You may learn that you are at risk of other health concerns through genetic testing.

The Genetic Information Nondiscrimination Act protects you from discrimination based on your genetic information by your health insurance or employer. However, the law does not apply in every circumstance. Your genetic counselor will review this law in detail during your appointment.

How to Prepare for a Genetic Hearing Loss Evaluation

If you are an adult experiencing progressive hearing loss of the inner ear or auditory nerve, you can schedule an appointment with our Center for Adult-Onset Hearing Loss to evaluate for possible genetic causes for your hearing loss.

Once your appointment is scheduled, please take the following steps to prepare:

• Some patients find it helpful to talk with family members about medical concerns they have, particularly history of hearing loss. A three-generation family tree will be collected, which will include your children, siblings, parents, aunts and uncles, and grandparents.
• If you are enrolled in MyChart by myPennMedicine, you will receive a message asking you to provide information about your family history. Please fill out the relevant information in a return message to the sender.
• Please plan to arrive 15 minutes before your appointment time. You do not need to fast in preparation for the blood and/or saliva sample collection.

What Can I Expect During My Appointment?

During your appointment, you will meet with a board-certified genetic counselor who will review your medical and family history. They will also review the benefits, risks, and limitations of genetic testing. At the end of your conversation, you will decide if you want to proceed with testing.

Meeting with a genetic counselor does not mean you are obligated to have genetic testing. The choice to have genetic testing is personal and the clinic staff are there to support you. You will also have the opportunity to enroll in the Penn Medicine BioBank.

After meeting with the genetic counselor, if you decide to proceed with genetic testing, your Penn ENT otologist will then perform a brief examination and answer any questions you may have. A blood and/or saliva sample will also be taken.

In total, the appointment with the genetic counselor and otologist typically takes about an hour. The results of the genetic testing are usually received within 4 to 6 weeks and will be communicated to you by a genetic counselor, likely via phone call.

Will Insurance Cover the Cost of Genetic Testing for Hearing Loss?

Clinical genetic testing is typically covered by insurance, but varies based on insurance type and plan. Prior to the test being performed, a benefit investigation is performed. Your genetic counselor will discuss coverage of the testing based on your personal insurance, and testing is not started until you consent to the expected cost. For patients whose insurance does not cover the testing, self-pay options are available.

Enrollment in the Penn Medicine BioBank is available at no cost to participants.