现在是将新型测序技术融入临床实践的时候了吗?

IF 3.1 3区 医学 Q2 HEMATOLOGY
Current Opinion in Hematology Pub Date : 2023-03-01 Epub Date: 2022-12-30 DOI:10.1097/MOH.0000000000000754
Jennifer VanOudenhove, Stephanie Halene, Lourdes Mendez
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引用次数: 0

摘要

综述目的:本研究的目的是深入了解新的下一代测序(NGS)技术将如何彻底改变临床实践。最近的发现:测序技术的进步集中在改进突变和读数的捕获以及细胞分辨率上。短读和长读DNA测序技术都在以新的方式进行改进,并与其他多组方法相结合,以获得对疾病前所未有的生物学见解。单细胞(sc)DNA-seq和具有免疫表型的整合scDNA-seq提供了关于疾病组成的颗粒信息,如克隆层次、共突变状态、结合度、克隆多样性和基因型-表型相关性。这些和其他技术可以鉴定稀有细胞群,为提高可测量的残留疾病监测的灵敏度和残留克隆的精确表征提供了机会,从而可以区分白血病和前/非恶性克隆。摘要:随着高通量NGS成本的降低,基于遗传学的骨髓疾病机制见解和分类的增加意味着新的测序技术更接近于在标准临床实践中实现。这些技术有望改善诊断,提高我们监测治疗反应的能力,将残留疾病降至最低,并允许研究癌前疾病,如克隆性造血。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Is it the time to integrate novel sequencing technologies into clinical practice?

Purpose of review: The aim of this study was to provide insight into how novel next-generation sequencing (NGS) techniques are set to revolutionize clinical practice.

Recent findings: Advances in sequencing technologies have focused on improved capture of mutations and reads and cellular resolution. Both short and long read DNA sequencing technology are being refined and combined in novel ways with other multiomic approaches to gain unprecedented biological insight into disease. Single-cell (sc)DNA-seq and integrated scDNA-seq with immunophenotyping provide granular information on disease composition such as clonal hierarchy, co-mutation status, zygosity, clonal diversity and genotype phenotype correlations. These and other techniques can identify rare cell populations providing the opportunity for increased sensitivity in measurable residual disease monitoring and precise characterization of residual clones permitting distinction of leukemic from pre/nonmalignant clones.

Summary: Increasing genetics-based mechanistic insights and classification of myeloid diseases along with a decrease in the cost of high-throughput NGS mean novel sequencing technologies are closer to being a reality in standard clinical practice. These technologies are poised to improve diagnostics, our ability to monitor treatment response and minimal residual disease and allow the study of premalignant conditions such as clonal haematopoiesis.

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来源期刊
CiteScore
6.60
自引率
3.10%
发文量
78
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Hematology is an easy-to-digest bimonthly journal covering the most interesting and important advances in the field of hematology. Its hand-picked selection of editors ensure the highest quality selection of unbiased review articles on themes from nine key subject areas, including myeloid biology, Vascular biology, hematopoiesis and erythroid system and its diseases.
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