随着基因检测和基因组解析技术的进步,耳聋相关基因研究和基因诊断进入高速发展的新阶段,对于遗传性耳聋的认识发生了革命性的变化和思考,越来越多的人将借助基因检测技术获得疾病的早期筛查和诊断。我们正走进一个能够应用基因组检测进行临床实践的新医学时代,耳聋的遗传咨询是新医学时代的产物。本文依据常见的耳聋遗传咨询问题和临床实践,梳理了对于耳聋遗传咨询的认识,为实践提供指导和帮助。
With the progress of genome testing technology, major advances in deciphering the genetic bases of hearing loss have been achieved. Identifying the genetic basis of hearing loss provides crucial information for diagnosis, intervention and treatment of the disease. Genetic counseling can help clients with hearing loss and their relatives learn more about the cause of hearing loss, as well as about the possibility of other family members' having hearing loss. This paper shares our understandings of the process of helping people adapt to the medical of genetic contributions to hearing loss and counsel to promote informed choices and adaptation to the risk.