Revisiting thrombophilia testing: leveraging next-generation sequencing for precision in VTE management.

IF 13.5 1区 医学 Q1 HEMATOLOGY
Ilham Youssry, Nardeen Ayad
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引用次数: 0

Abstract

Venous thromboembolism (VTE) remains a significant cause of morbidity and mortality, particularly among individuals with inherited thrombophilia. Despite the widespread use of thrombophilia testing, its clinical value is often questioned due to inconsistent guidelines and limited prospective evidence. Traditional testing panels target only a narrow set of common variants-such as Factor V Leiden and Prothrombin G20210A-and may miss rare, complex, or combined mutations, especially in high-risk patients, including pediatric populations and those with unprovoked events or atypical presentations. This correspondence aims to re-evaluate the clinical role of thrombophilia testing in light of next-generation sequencing (NGS), a technology that offers a broader, more precise assessment of heritable thrombotic risk. We discuss how NGS improves variant detection, enhances risk stratification, and supports a precision medicine framework-particularly in clinical scenarios where standard algorithms fail. By integrating emerging evidence and real-world applications, we advocate for an updated, individualized approach to genetic testing in VTE care.

重新审视血栓病检测:利用新一代测序技术在静脉血栓栓塞管理中的准确性。
静脉血栓栓塞(VTE)仍然是发病率和死亡率的重要原因,特别是在患有遗传性血栓的个体中。尽管血栓检测广泛使用,但由于指南不一致和前瞻性证据有限,其临床价值经常受到质疑。传统的检测只针对一组狭窄的常见变异,如因子V Leiden和凝血酶原g20210a,可能会错过罕见的、复杂的或联合突变,特别是在高风险患者中,包括儿科人群和那些有非诱发性事件或非典型表现的患者。本文旨在根据新一代测序技术(NGS)重新评估血栓病检测的临床作用,该技术可提供更广泛、更精确的遗传性血栓风险评估。我们讨论了NGS如何改进变异检测,增强风险分层,并支持精准医疗框架-特别是在标准算法失败的临床场景中。通过整合新出现的证据和现实世界的应用,我们提倡一种更新的、个性化的方法来进行静脉血栓栓塞治疗的基因检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
12.60
自引率
7.30%
发文量
97
审稿时长
6 weeks
期刊介绍: Experimental Hematology & Oncology is an open access journal that encompasses all aspects of hematology and oncology with an emphasis on preclinical, basic, patient-oriented and translational research. The journal acts as an international platform for sharing laboratory findings in these areas and makes a deliberate effort to publish clinical trials with 'negative' results and basic science studies with provocative findings. Experimental Hematology & Oncology publishes original work, hypothesis, commentaries and timely reviews. With open access and rapid turnaround time from submission to publication, the journal strives to be a hub for disseminating new knowledge and discussing controversial topics for both basic scientists and busy clinicians in the closely related fields of hematology and oncology.
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