■感觉神经性听力障碍(SNHI),一种常见的儿童疾病,具有异质性的遗传原因,会导致语言发育迟缓和社会心理问题。下一代测序(NGS)可对SNHI的遗传病因进行高通量筛选和高灵敏度检测,使临床医生能够做出明智的医疗决定,提供量身定制的治疗方法,并改善预后结果。
■这篇综述涵盖了HHI的多种病因以及不同NGS模式(靶向测序和全外显子组/基因组测序)的实用性,包括新生儿筛查的HHI相关研究,遗传咨询,预后预测,个性化治疗。挑战,如成本和诊断产量之间的权衡,结构变异的检测,和非编码基因组的探索也被强调。
■在当前基于NGS的HHI诊断中,既有挑战(如结构变异和非编码基因组变异的检测),也有机遇(如医疗人工智能工具的出现).作者主张使用技术进步,如长读数测序用于结构变异检测,非编码变异探索的多组学分析,以及用于致病性评估和结果预测的医学人工智能。通过将这些创新融入临床实践,精准医学在HHI的诊断和管理方面可以进一步提高。
UNASSIGNED: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve prognostic outcomes.
UNASSIGNED: This review covers the diverse etiologies of HHI and the utility of different NGS modalities (targeted sequencing and whole exome/genome sequencing), and includes HHI-related studies on newborn screening, genetic counseling, prognostic prediction, and personalized treatment. Challenges such as the trade-off between cost and diagnostic yield, detection of structural variants, and exploration of the non-coding genome are also highlighted.
UNASSIGNED: In the current landscape of NGS-based diagnostics for HHI, there are both challenges (e.g. detection of structural variants and non-coding genome variants) and opportunities (e.g. the emergence of medical artificial intelligence tools). The authors advocate the use of technological advances such as long-read sequencing for structural variant detection, multi-omics analysis for non-coding variant exploration, and medical artificial intelligence for pathogenicity assessment and outcome prediction. By integrating these innovations into clinical practice, precision medicine in the diagnosis and management of HHI can be further improved.