Deafness Genetic Testing-an Example of Translational Medicine Accelerating the Progress of Otology

YUAN Yongyi; DAI Pu

doi:10.3969/j.issn.1672-2922.2014.01.001

Abstract：Translational medicine is a multi-discipline syncretic field mainly from the development of genomics and bioinformatics. It can be broadly defined as‘bench to bedside’research. It advocates information obtained from preliminary human experiments be used to refine our understanding of the biological systems and principles underpinning different human diseases. This enables further development and enhancement of therapeutics for treating and preventing the disease. Deafness genetic testing has been practiced in China for more than 10 years. It not only reveals the exact molecular etiology for a great proportion of hearing impairment population, but also shows the carrying state of deafness genes/mutations among the families. Deafness genetic testing serves as the basis for genetic counseling, prenatal genetic diagnosis, and preimplantation genetic di-agnosis of deafness. It promotes the realization of primary, secondary and tertiary prevention of deafness. The advent of deaf-ness genetic testing elevates the diagnosis of hearing impairment from a radiological and audiological level to a molecular lev-el. Meanwhile, it underlies the future gene thearapy for deafness. The development of deafness genetic testing in China acceler-ates the progress of otology, which is an good example of translational medicine.