Precision medicine in hearing loss

被引:20
作者
Rudman, Jason R. [1 ]
Mei, Christine [1 ]
Bressler, Sara E. [1 ]
Blanton, Susan H. [1 ,2 ,3 ]
Liu, Xue-Zhong [1 ,2 ,3 ]
机构
[1] Univ Miami, Miller Sch Med, Dept Otolaryngol, Miami, FL 33136 USA
[2] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA
[3] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA
基金
美国国家卫生研究院;
关键词
Precision medicine; Personalized medicine; Hearing loss; Genetics; COMPOUND HETEROZYGOUS MUTATIONS; ELECTRIC ACOUSTIC STIMULATION; NEUROPATHY SPECTRUM DISORDER; CAUSE OVARIAN DYSGENESIS; MAMMALIAN INNER-EAR; COCHLEAR IMPLANTATION; GENE-THERAPY; SPEECH-PERCEPTION; USHER-SYNDROME; MOUSE MODEL;
D O I
10.1016/j.jgg.2018.02.004
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Precision medicine (PM) proposes customized medical care based on a patient's unique genome, bio-markers, environment and behaviors. Hearing loss (HL) is the most common sensorineural disorder worldwide and is frequently caused by a single genetic mutation. With recent advances in PM tools such as genetic sequencing and data analysis, the field of HL is ideally positioned to adopt the strategies of PM. Here, we review current and future applications of PM in HL as they relate to the four core qualities of PM (P4): predictive, personalized, patient-centered, and participatory. We then introduce a strategy for effective incorporation of HL PM into the design of future research studies, electronic medical records, and clinical practice to improve diagnostics, prognostics, and, ultimately, individualized patient treatment. Finally, specific anticipated ethical and economic concerns in this growing era of genomics-based HL treatment are discussed. By integrating PM principles into translational HL research and clinical practice, hearing specialists are uniquely positioned to effectively treat the heterogeneous causes and manifestations of HL on an individualized basis. Copyright (C) 2018, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.
引用
收藏
页码:99 / 109
页数:11
相关论文
共 50 条
[41]   HEARING-LOSS, SPEECH, AND HEARING-AIDS [J].
VANTASELL, DJ .
JOURNAL OF SPEECH AND HEARING RESEARCH, 1993, 36 (02) :228-244
[42]   Panel 3: Genetics and Precision Medicine of Otitis Media [J].
Lin, Jizhen ;
Hafren, Lena ;
Kerschner, Joseph ;
Li, Jian-Dong ;
Brown, Steve ;
Zheng, Qing Y. ;
Preciado, Diego ;
Nakamura, Yoshihisa ;
Huang, Qiuhong ;
Zhang, Yan .
OTOLARYNGOLOGY-HEAD AND NECK SURGERY, 2017, 156 :S41-S50
[43]   Hearing and sociality: the implications of hearing loss on social life [J].
Podury, Archana ;
Jiam, Nicole T. ;
Kim, Minsu ;
Donnenfield, Jonah I. ;
Dhand, Amar .
FRONTIERS IN NEUROSCIENCE, 2023, 17
[44]   Genetics of Childhood Hearing Loss [J].
Mitchell, Calli Ober ;
Morton, Cynthia Casson .
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA, 2021, 54 (06) :1081-1092
[45]   Global Hearing Loss Prevention [J].
Brown, Clifford Scott ;
Emmett, Susan D. ;
Robler, Samantha Kleindienst ;
Tucci, Debara L. .
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA, 2018, 51 (03) :575-+
[46]   Imaging in children with hearing loss [J].
Sorge, Ina ;
Hirsch, Franz Wolfgang ;
Fuchs, Michael ;
Graefe, Daniel ;
Dietz, Andreas ;
Sorge, Martin .
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 2023, 195 (10) :896-904
[47]   Hearing Loss in Neurological Disorders [J].
Li, Siyu ;
Cheng, Cheng ;
Lu, Ling ;
Ma, Xiaofeng ;
Zhang, Xiaoli ;
Li, Ao ;
Chen, Jie ;
Qian, Xiaoyun ;
Gao, Xia .
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
[48]   Mitochondrial defects and hearing loss [J].
Hutchin, TP ;
Cortopassi, GA .
CELLULAR AND MOLECULAR LIFE SCIENCES, 2000, 57 (13-14) :1927-1937
[49]   Hearing Loss: Diagnosis and Management [J].
Lasak, John M. ;
Allen, Patrick ;
Mcvay, Tim ;
Lewis, Douglas .
PRIMARY CARE, 2014, 41 (01) :19-+
[50]   Otolaryngology for the Internist: Hearing Loss [J].
Nieman, Carrie L. ;
Reed, Nicholas S. ;
Lin, Frank R. .
MEDICAL CLINICS OF NORTH AMERICA, 2018, 102 (06) :977-+