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Newborn Screening Ontario
Hearing Loss Risk Factor Screening

Genetic Risk Factor Screen Positive Result

What genetic risk factors are included in risk factor screening?

Some of the most common genetic differences (also called mutations) in the GJB2, GJB6 and SLC26A4 genes are included in the risk factor screen for permanent hearing loss (PHL).  A mutation is a difference in a gene that either makes the gene not work, or causes the gene to work differently. These three genes all provide instructions to make proteins that are important to the development of the inner ear or cochlea. The SLC26A4 gene is also involved in the development of the thyroid (a gland found in the neck region which makes important hormones the body needs).

What does a “positive” genetic risk factor result mean?

A positive genetic risk factor screening result means that a baby has a high chance of having PHL. Babies with a positive genetic risk factor screening result should have a hearing (audiology) assessment with an Infant Hearing Program (IHP) audiologist to find out if they have PHL.

How does permanent hearing loss (PHL) happen in families?

Hearing loss can happen in families in different ways, depending on the genes involved. The genetic risk factor screen specifically looks for PHL caused by 3 genes: GJB2, GJB6 and SLC26A4. PHL caused by differences in these genes is called “recessive”. This means a child must have two non-working copies of the same or related gene to have, or be at a higher risk to develop, PHL.

If your baby has a positive genetic risk factor screen, the following resource may help answer some of the questions you might have: 

My Baby Has a Positive Genetic Risk Factor Screening Result for Permanent Hearing Loss (PHL)

Mon bébé a eu un résultat de dépistage positif pour un facteur de risque héréditaire