Vol.101 No.10 contentsPRACTICA OTO-RHINO-LARYNGOLOGICA
Vol. 101 No. 10 October 2008
Genetic Counseling for Congenital Hearing Loss Patients
-with special reference to genetic testing-
Shin-ichi Usami
(Shinshu University School of Medicine)
Congenital deafness is a very common sensory disorder (occurring in 1-2 per 1,000 children) that can interfere extensively in the development of speech and language, and comprises a heterogeneous group of disorders. Based on several etiological studies, at least 50％ of childhood hearing loss has been estimated to be of a genetic etiology. Therefore, genetic testing has become increasingly important for a more accurate diagnosis, prediction of the severity of future hearing loss, estimation of associated abnormalities, selection of appropriate habilitation options, prevention of hearing loss, and improved genetic counseling. In genetic testing, the human rights of the person must be protected, and proper and appropriate genetic testing should be promoted. Certified clinical genetic experts and ENT specialists should provide counseling before and after a genetic diagnosis. Geneticists should explain genetics in general as well as the genetic risks involved in hearing. ENT specialists who are experts on hearing and therapeutic options are the most appropriate to accompany the geneticists. Easily understandable language should be used when explaining the genetic testing and results to patients.
Key words :genetic counseling, genetic testing, congenital deafness