ABSTRACT

In this chapter, we are reviewing the latest discoveries regarding the genetics of hearing loss but also the difficulties in implementing genetic testing in large clinical populations, due notably to the extreme heterogeneity of the disorder. We are presenting and discussing the newest developments in genetic testing techniques including whole exome and whole genome sequencing, their clinical applications and role in the newly crafted concept of precision medicine and their current limitations, including feasibility and costs. Finally, we will examine the future treatments of genetic hearing loss with cell and gene therapy, and the challenges ahead.