Diagnosing and Preventing Hearing Loss in the Genomic Age

Abstract

Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.

Navigating Hereditary Hearing Loss: Pathology of the Inner Ear

“…In summary, hereditary sensorineural forms of hearing loss primarily affect the tissues and cell types of the inner ear that are vital to sensing sound and transmitting signals to the brain. Our knowledge of the genetics of hearing loss is growing as the pace of identifying novel human mutations associated with impairments in hearing is rapidly increasing ( Shearer and Smith, 2015 ; McDermott et al, 2019 ). This increase is fueled by the accessibility and affordability of genome sequencing.…”

Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the ‘Terrible Moral and Medical Dilemma’?

“…The 2012 NICE guidance cited recommends a combination of gentamicin and benzylpenicillin as first-line therapy for early onset neonatal infection 2. During the design stages of the PALOH trial, there was extensive discussion with microbiologists and neonatologists 3. This highlighted that first, the reason that gentamicin and benzylpenicillin were chosen as first-line therapy was not due to superiority over other agents on an individual patient level, but because it has a more narrow spectrum of activity and therefore does not readily contribute towards the development of resistant bacterial pathogens.…”

ManCAD100: 100 Years of Audiology and Deaf Education at Manchester

“…Guest et al (2019) examine the effects on acoustic reflex thresholds of interstimulus interval, a parameter that has received little attention to date. The review by McDermott et al (2019) exemplifies an important new direction for the group in genomics research, with huge potential for pediatric diagnostics.…”