What are the Genetics of Hearing Loss?

Approximately 360 million people suffer from hearing loss. Half of congenital hearing loss is genetic, with over 400 syndromes associated with hearing loss, and at least 100 genes - that are known to us - list hearing loss as the only scientific explanation.
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Regardless of these alarming numbers, it is crucial to obtain a specific origin of the disease for an individual’s genetic hearing loss because it essentially affects the way a practitioner advises, oversees, and cares for each patient. Fortunately, there have been new developments in fast and affordable genetic testing technology (i.e. next generation sequencing), enhanced data analysis, and prevalent usage of electronic health records (EHR).

Hearing Loss at Birth and Genetic Mutations

Congenital hearing loss is typically diagnosed shortly after birth through a newborn hearing screening (NBHS). Yet, several instances of hearing loss only become evident later on in life - to those who are genetically predisposed - because the appearance of late-onset hearing loss mutations. It can also occur after using antibiotics, or suffering from a head trauma. Associations of hidden and delayed diagnoses demonstrate the possibility of improvements, which grant a great opportunity to take advantage of the latest tools of genetic testing.

A mutation that causes hearing loss will be present before and at birth, no matter if the hearing loss is progressive or delayed. It would be effective to run a genetic screening panel that includes a population’s common hearing loss genes to test newborns, to improve the amount of time to diagnose and treat each patient. There are panels who provide rapid and relatively affordable screenings of common hearing loss genes.   
    
Syndromic Hearing Loss

Syndromic hearing loss is linked to other health problems such as eye diseases and cardiac abnormalities. Those who have non-syndromic hearing loss, and no other symptoms, do not need costly workup for non-ear related diseases. Parents can save themselves from avoidable expenses and concern, while guiding the efficient workup and proper treatment of hearing loss by becoming informed about specific genetic causes of hearing loss. This can also allow parents to be informed in regards to the risk of hearing impairment with future offspring.

A genetic analysis can aid in predicting a hearing aid wearer’s response to cochlear implantation. For example, those with the GJB2 mutation have an outstanding response to cochlear implants, as opposed to those who have genes that affect the cochlear nerves experienced worse post-implant performance. This knowledge can help guide the wearer’s expectations of the post-implant auditory function.

Mutations can cause someone to acquire hearing loss, combined with exposure to various environments. Genetic tests and studies open the possibility of curing certain types of hearing loss. Early intervention in genetic hearing loss could prevent certain hearing impairments.

If you have a family history of genetic hearing loss, go see your primary care physician or hearing health care professional to get checked out. If you or a loved one currently suffers from hearing loss, contact us at Pure Sound Hearing Aids for a free hearing test and consultation.

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