Background

Hearing loss is the most common sensory deficit in humans. In many persons, it develops as a result of genetic factors that damage the inner ear. For example, in babies, most hearing loss is due to genetic causes, and in many adults, genetic factors can be identified as well. When genetic hearing loss is not associated with other features, it is called non-syndromic hearing loss (NSHL).

There are also over 400 syndromic causes of hearing loss (hearing loss associated with other features), two of the most common being Usher syndrome (deafness and blindness) and Pendred syndrome (deafness and thyroid abnormalities).

One hundred and one genes are known to cause NSHL, Usher syndrome and Pendred syndrome, making genetic diagnosis difficult using conventional methods. It is for this reason that the Molecular Otolaryngology and Renal Research Laboratories (MORL) at the University of Iowa have developed OtoSCOPE®.

Reasons for Testing

Genetic testing for hearing loss can provide important answers to many questions. By determining the cause of hearing loss, information can be given on recurrence risk for future children, prognosis (whether hearing loss will worsen over time), additional medical evaulation or imaging that should be provided, and best method of treatment (such as cochlear implants or hearing aids).

Method of Testing

The OtoSCOPE® platform relies on the newest DNA sequencing methods. It does not target one gene at a time for genetic screening, which can be expensive and time consuming.

OtoSCOPE® simultaneously screens all genes known to cause NSHL, Usher syndrome and other syndromes such as Pendred and Waardenburg syncrome. This comprehensive approach decreases cost and waiting time for test results.

OtoSCOPE® uses custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. In this way, all genes known to cause NSHL, Usher syndrome, Pendred syndrome and other syndromes are sequenced at the same time. Data analysis to examine possible causative variants using our custom variant pipeline is followed by confirmation of possible variants by traditional Sanger sequencing.  Data analysis is performed and results are discussed at a multidisciplinary meeting where each patient's variants are discussed individually and in the context of their unique clinical information to provide the most comprehensive diagnosis possible.  These meetings are attended by clinical experts, research scientists, bioinformaticians and genetic counselors.

OtoSCOPE® has a diagnostic sensitivity and specificity of greater than 99% (Shearer et al., Proc Natl Acad Sci USA, 107(49), 2010).

Our lab will work directly with your physician or genetic counselor to ensure that test results are interpreted appropriately.