Applying Next Generation Sequencing to an Early Detection of Hearing Loss Program 1 Clínica Universidad de Navarra 2 Unidad de Tumores Sólidos y Enfermedades Hereditarias CIMALAB, Diagnostics – Universidad de Navarra Diagnostics – Universidad de Navarra Manrique M1 , Patiño-García A1,2, Prieto-Matos C1 , Manrique-Huarte R1 , Calavi

Abstract

Current early hearing detection and intervention (EHDI) programs for children indicate that the diagnosis and treatment must be carried out within the first six months of life. Genetic testing can identify the causal variant of the hereditary hearing loss and is very useful for that. Implementing this testing would enable personalized medicine, avoiding other more costly and time consuming tests, and the negative effect of treating a child outside of the period of greatest hearing sensitivity. Genetic tools are not part of EHDI programs. These programs are based on testing hearing. If genetic tools are used, the most likely gene is selected and analyzed via Sanger sequencing. The latest next-generation sequencing (NGS) can be applied to EHDI programs. From 100 to 200 genes associated to hearing loss can be analyzed through NGS in one blood sample or saliva set, bringing down the cost of analysis and enabling the causal diagnosis of hearing loss in a short time span. This paper reviews the current state of early hearing detection and intervention programs in children, discusses the next generation gene sequencing tools applied to hearing loss in children, presents potential approaches to the EHDI programs and analyzes the key issues to personalize the treatment of hearing loss