Future directions for screening and treatment in congenital hearing loss

Abstract

Hearing loss is the most common neurosensory deficit. It results from a variety of heritable and acquired causes and is linked to multiple deleterious effects on a child's development that can be ameliorated by prompt identification and individualized therapies. Diagnosing hearing loss in newborns is challenging, especially in mild or progressive cases, and its management requires a multidisciplinary team of healthcare providers comprising audiologists, pediatricians, otolaryngologists and genetic counselors. While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before, a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality. In this review, we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

“…Since NGS has also significantly facilitated novel gene discovery, the number of hearing loss genes has continuously expanded, entailing the repeated addition of novel genes to updated versions of targeted hearing loss panels. Over the last decade, the number of validated genes available for clinical diagnostics has tripled, with more than 200 known genes currently used in routine clinical genetic testing in some centers ( Rubinstein et al 2013 ; Thorpe & Smith 2020 ).…”

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

“…The key question is whether the additional content included on supplemental newborn screening panels is expected to have the same level of actionability as evidence-based NBS conditions [ 34 – 36 ]. Genes correlated to conditions included in traditional public health newborn screening programs might be expected to be listed, but this becomes complicated given that conditions identified through phenotypic screens, such as hearing loss and cyanotic heart disease, could have a very broad range of both genetic and non-genetic etiologies [ 37 , 38 ]. It remains to be explored whether it would be more informative for neonatal genomic sequencing tests to cover conditions that are not addressed with current newborn screening and thereby extend the range of conditions that can be detected.…”

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

“…At present, the efficacy of antiviral treatment with ganciclovir/ valganciclovir in mitigating HL from asymptomatic cCMV is still unclear, although there are a few ongoing clinical trials to help understand this better (https://clinicaltrials.gov/ ct2/show/NCT03107871). 86 Congenital rubella, which was a common cause of HL in the mid-1960s, occurs less frequently in Western populations today as a result of successful immunization programs. 87,88 According to the World Health Organization, no cases of endemic rubella infection are known to have occurred in the Americas between 2009 and 2012.…”