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Genetic hearing loss: the audiologist’s perspective
Human Genetics ( IF 5.3 ) Pub Date : 2021-09-04 , DOI: 10.1007/s00439-021-02360-6
Carmen C Brewer 1 , Kelly A King 1
Affiliation  

As knowledge regarding the genetic underpinnings of hearing loss has rapidly evolved, the role of the clinician in managing the patient has expanded beyond that of defining the characteristics of the auditory phenotype. The importance and impact of a genetic diagnosis has yet to be fully realized in routine clinical care. However, audiologists are uniquely situated to be front-line healthcare providers for persons of all ages with hereditary hearing loss. Here, we discuss why the combination of genotype and phenotype are necessary for the delivery of personalized and effective clinical care for individuals with genetic hearing loss.



中文翻译:

遗传性听力损失:听力学家的观点

随着有关听力损失遗传基础的知识迅速发展,临床医生在管理患者中的作用已超出定义听觉表型特征的作用。基因诊断的重要性和影响尚未在常规临床护理中得到充分体现。然而,听力学家具有独特的地位,可以成为所有年龄的遗传性听力损失患者的一线医疗保健提供者。在这里,我们讨论了为什么基因型和表型的结合对于为遗传性听力损失个体提供个性化和有效的临床护理是必要的。

更新日期:2021-09-04
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