精准医疗在耳聋治疗中的作用

Precision medicine in the treatment of deafness

精准医疗(precision medicine,PM)根据患者独特的遗传物质、生物标记、环境和生活经历,提出个体化的医疗服务。耳聋(hearing loss,HL)是世界上最常见的感觉神经性疾病,并多为由单基因突变引起。目前,耳聋治疗策略主要依靠助听器或人工耳蜗植入,然而这种非个性化的治疗策略在不同患者中的效果差异较大。随着基因测序等精准医疗工具的发展,耳聋已成为应用精准医疗策略的理想病种。本文首先回顾了目前及未来耳聋精准医疗的应用状况。然后,提出一种策略,将耳聋的精准医疗融入到未来科学研究和临床实践中,以及提高诊断、预后的临床实践中,最终实现个体化治疗服务。最后,讨论了在这个日益增长的基于基因组进行耳聋治疗时代未来可能发生的伦理问题。

Precision medicine （PM） provides individual medical care according to unique genetic, biomarkers, environment and experience. Hearing loss （HL） is the most frequent sensorineural disease in the world, which is usually caused by single gene mutation. At present, the major therapeutic strategy of hearing loss relies on wearing hearing aid or implanting cochlear implant. However, the effect of this unpersonalized strategy varies from person to person. With the development of precision medicine tools such as next generation sequencing, heating loss has become the optimal disorder to adopt strategies of precision medicine. The authors review current and future applications of precision medicine in hearing loss. Then, we propose a strategy that incorporates precision medicine of heating loss into scientific research and clinical practices in the future, so as to improve the level of diagnosis and prognosis in the clinical practices and realize the objective of individual treatment finally. In the end, the ethical problems that may occur in the growing era of genomicsbased hearing loss treatment are discussed.