未确诊综合征的外显子组/基因组测序。

IF 15.1 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Jennifer A Sullivan, Kelly Schoch, Rebecca C Spillmann, Vandana Shashi
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引用次数: 0

摘要

外显子组测序(ES)和基因组测序(GS)从根本上改变了诊断未确诊罕见/特发性孟德尔疾病的方法。下一代测序(NGS)技术是 ES、GS 和大多数大型(100 个以上)基因面板不可或缺的技术,它使以前无法想象的诊断、医疗管理的改变、新的治疗方法、对患者进行准确的生殖风险评估以及新疾病基因的发现成为可能。然而,挑战依然存在,因为目前的 NGS 仍无法诊断出大多数患者。NGS 技术的改进带来了长读程测序技术,它可以为一些无法通过目前的短读程 ES 和 GS 获得诊断的患者解决诊断问题,但其效果尚不明确,而且价格昂贵。其他持续存在的挑战包括:解决意义不确定的变异、超罕见疾病患者获得治疗的迫切需要、患者公平获得基于 NGS 检测的需要,以及对伦理问题的研究。然而,由于该领域的不断进步,解决未诊断疾病的前景是光明的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Exome/Genome Sequencing in Undiagnosed Syndromes.

Exome/Genome Sequencing in Undiagnosed Syndromes.

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has enabled previously unimaginable diagnoses, changes in medical management, new treatments, and accurate reproductive risk assessments for patients, as well as new disease gene discoveries. Yet, challenges remain, as most individuals remain undiagnosed with current NGS. Improved NGS technology has resulted in long-read sequencing, which may resolve diagnoses in some patients who do not obtain a diagnosis with current short-read ES and GS, but its effectiveness is unclear, and it is expensive. Other challenges that persist include the resolution of variants of uncertain significance, the urgent need for patients with ultrarare disorders to have access to therapeutics, the need for equity in patient access to NGS-based testing, and the study of ethical concerns. However, the outlook for undiagnosed disease resolution is bright, due to continual advancements in the field.

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来源期刊
Annual review of medicine
Annual review of medicine 医学-医学:内科
CiteScore
24.90
自引率
0.00%
发文量
58
期刊介绍: The Annual Review of Medicine, which has been published since 1950, focuses on important advancements in diverse areas of medicine. These include AIDS/HIV, cardiology, clinical pharmacology, dermatology, endocrinology/metabolism, gastroenterology, genetics, immunology, infectious disease, neurology, oncology/hematology, pediatrics, psychiatry, pulmonology, reproductive medicine, and surgery. The journal's current volume has transitioned from a gated access model to an open access model through the Annual Reviews' Subscribe to Open program. All articles published in the journal are now available under a CC BY license.
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