Genetic Testing for Hearing Loss

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Key Points

• Genetic testing is a powerful tool that can augment more traditional diagnostic methods in identifying and diagnosing the etiology of hearing loss.
• Although available for years, gene testing has only recently has become a feasible tool in the clinical setting.
• Among the key goals of genetic testing for hearing loss, particularly in children, is to provide a precise diagnosis to guide treatment.
• Clinicians consider genetic testing frequently and provide it as a typical component to the algorithm to diagnose hearing loss, with emphasis on the idea that clinicians need to develop relationships with local geneticists for patients in whom more extensive genetic counseling is needed.

Hospitalists as Test Subjects

Genetic susceptibility to otitis media in childhood

Abstract. Otitis media (OM) is a common disease in early childhood characterized by inflammation of the middle ear cavity. Heritability studies suggest that there is a substantial genetic component (40%–70%) to the risk of recurrent acute OM, defined as three or more episodes in 6 months or four or more episodes in a year, or chronic OM with effusion (COME), defined as middle ear fluid for ≥3 months. To date, only a handful of the regions/genes underlying this genetic susceptibility have been identified. These include several regions of linkage on chromosome 3p25, 10q22, 10q26, 17q12, and 19q13 identified by two genome-wide linkage scans, which appear to harbor susceptibility loci. Fine mapping of these regions has yet to identify the causative genes. Several candidate genes studies have also been reported, with candidates selected on the basis of a plausible biological role in OM or through OM mouse models. Reviewed in this article, these studies have identified positive association at 21 genes, including FBXO11, TLR4, and TNF, with association at five of these replicated in independent populations. However, these studies have been based on small sample sizes, and it is only recently that well-powered OM cohorts suitable for genome-wide association studies (GWAS) have become available. Results from such GWAS will identify novel genes involved in this complex disease. Identification of the genes that contribute to OM susceptibility in childhood will provide important insights into the biological complexity of this disease that could ultimately contribute to improved preventative and therapeutic strategies to reduce the incidence of this disease (Laryngoscope. 2012;122:665–675 ).

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

Objectives/Hypothesis. To perform a systematic review of GJB2-associated hearing loss to describe genotype distributions and auditory phenotype.