Genetics and Hearing Loss

When is hearing loss genetic?

When a child is born with hearing loss or develops hearing loss early in childhood, over 50% of the time the cause is genetic and due to a genetic change, or mutation. The majority of children with genetic hearing loss do not have any other birth defects or major health concerns associated with their hearing loss. However, some forms of genetic hearing loss can be associated with a genetic syndrome with other health concerns that could include heart defects, vision loss, or developmental delays.

What if there is no family history of hearing loss?

Hearing loss can be genetic with or without a family history of hearing loss. Some families with genetic hearing loss may have many members who are affected, other families may have only one. Even if your child is the first in your family to be diagnosed with hearing loss, a genetic change can still be the cause.

How can a genetic diagnosis help my child?

A genetic diagnosis can help providers better understand your child’s hearing loss and provide the most appropriate care. Genetic information can help your child’s providers predict if other health problems could develop or if their hearing loss could change over time.

How can a genetic diagnosis help my family?

If your child’s hearing loss is found to be genetic, genetic testing can be used to determine if other family members carry the genetic change. This information can be used to help determine the likelihood that family members who carry the genetic change may have a child with hearing loss in the future.

What if my child is adopted?

Even if your child’s family history is unknown, genetic testing is still an option. The genetics team will use information from your child’s known medical history and physical exam to determine which genes should be evaluated.

How does genetic testing work?

Genetic testing is a medical test that looks for genetic changes (mutations) in a person’s genetic material, also known as DNA. Testing is most commonly done on a small blood sample (2-3 teaspoons). This sample is sent to a diagnostic laboratory that looks for changes in genes that are most commonly associated with hearing loss. It may take 3-5 weeks to get genetic testing results.

What happens at a genetics appointment?

Your child will be seen by a genetic counselor and a doctor specializing in pediatric genetics. Information will be collected about your child’s medical and family history and the doctor will perform a physical exam. This evaluation can provide clues about which genes are most likely involved in your child’s hearing loss and identify the best genetic testing options. The genetics team will also provide information about how hearing loss can be inherited, support resources, and referrals to other providers as needed.

Is genetic counseling and genetic testing covered by insurance?

Genetic counseling is typically covered by most insurance companies; it is similar to seeing a specialist. Health insurance will cover the costs of genetic testing in many cases, however, insurance companies may have different policies about requirements for genetic testing. It is important to check with your insurance company to verify coverage for both the appointment and testing. When the appropriate genetic test(s) has been identified, a genetics team can also assist with verifying coverage for genetic testing.

How do I make an appointment?

A genetics evaluation and genetic testing is arranged following a referral to the Pediatric Genetics Clinic by your child’s pediatrician, otolaryngologist, or other provider. For families who are not located in the Ann Arbor area, the Find a Genetic Counselor directory can help to find the closest genetic counselor to you.

Read stories by parents whose children have had genetic testing:

Additional resources: