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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月30日

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  • Ilham Youssry,
  • Nardeen Ayad

摘要

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.