Division of Clinical and Translational Genetics : Deafness clinic

Deafness clinic

The Hearing Loss Clinic at the Department of Human Genetics has been established to provide diagnosis, clinical care, education, and genetic counseling to individuals and families whose hearing loss might be due to changes in genes. A multidisciplinary team including audiologists, an ENT surgeon, a clinical geneticist, and certified genetic counselors evaluate and provide care to the family.

Evaluations at Our Clinic include:
• Audiological assessment of hearing loss
• Evaluation of additional clinical and/or laboratory findings that can be associated with hearing loss
• Genetic counseling including risk assessment in future pregnancies
• Genetic testing
• Access to research studies on the genetics of hearing loss

Genetic Factors in Hearing Loss
More than 50 percent of early onset hearing loss is due to changes in genes. Hearing loss can be a part of a multisystemic genetic disorder referred to as a syndrome. Majority of individuals with hearing loss do not have additional findings. Changes in any one of more than 60 genes can cause isolated hearing loss.

Genetic Testing
At the end of the clinical evaluation, the geneticist might offer a test for genes that cause hearing loss. Many insurance plans pay for these tests.

Genetic Counseling
Most patients will meet with a genetic counselor to discuss the genetics of hearing loss, the risk of recurrence in future pregnancies, and the benefits and limitations of genetic testing. The genetic counselor will also help the patient or family understand the results of genetic testing or the clinical evaluation. Finally, the genetic counselor will help to provide support to the family and can assist families in locating resources in the community.

Clinical Management
Whenever an additional finding is detected, long term care is planned and discussed with the individual and with the family. Relatively common additional findings include retinitis pigmentosa affecting vision at dark, enlarged thyroid gland, kidney dysfunction, and rate or rhythm problems of the heartbeat. If a specific gene change is detected it would be possible to predict if hearing loss will be progressive or is affected with environmental exposures such as aminoglycoside antibiotics.

Access to Research Studies on the Genetics of Hearing Loss
In occasions the genetic testing can not find the genetic cause of hearing loss in an individual or in a family. There is a research study at the John P Hussman Institute for Human Genomics to identify novel genetic causes of hearing loss. You and your family may qualify for this study. Participation is voluntary.