肿瘤分子谱分析结果回归的挑战。

Heinz-Josef Lenz,David W Craig,Kevin C Johnson,Roel Verhaak,Oindrila Bhattacharyya,Bethany Davis,Cherie Wesley,Sara A Byron,Cheryl Willman,Lindsey Kelley,Elizabeth B Claus,Jeffrey Trent,Julie O Culver,Stacy W Gray,Alanna J Church
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引用次数: 0

摘要

下一代测序(NGS)通过提供诊断、预后和治疗的基本见解,改变了癌症护理。然而,测试时间、报告实践和解释挑战的可变性限制了其临床影响。本文强调了优化体细胞报告的关键机会,强调了在整个癌症护理连续体中及时检测的重要性,以最大限度地提高发现的诊断和治疗相关性。技术因素,如试验设计、测序深度和液体活检的使用显著影响结果的准确性和解释,强调需要仔细结合临床病史。明确描述诊断、预后和治疗结果的标准化报告实践可以提高NGS结果的临床实用性。精简的格式和精心策划的临床试验数据进一步支持可操作的决策。此外,患者的直接参与和教育对于使患者能够驾驭基因组检测并对其护理做出明智的决定至关重要。通过利用多学科肿瘤委员会、决策支持工具和新兴的人工智能技术,临床医生可以更好地处理复杂的躯体报告。报告的标准化和清晰度对于推进精准肿瘤学、使提供者和患者能够做出明智的治疗决策和改善结果至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Challenges in the return of molecular tumor profiling results.
Next-generation sequencing (NGS) has transformed cancer care by providing essential insights for diagnosis, prognosis, and treatment. However, variability in testing timing, reporting practices, and interpretation challenges limits its clinical impact. This manuscript highlights key opportunities to optimize somatic reporting, emphasizing the importance of timely testing throughout the cancer care continuum to maximize the diagnostic and therapeutic relevance of findings. Technical factors such as test design, sequencing depth, and the use of liquid biopsy significantly influence result accuracy and interpretation, underscoring the need for careful integration with clinical history. Standardized reporting practices that clearly delineate diagnostic, prognostic, and therapeutic findings can enhance the clinical utility of NGS results. Streamlined formats and curated clinical trial data further support actionable decision-making. Additionally, direct patient engagement and education are essential for empowering patients to navigate genomic testing and make informed decisions about their care. By leveraging multidisciplinary tumor boards, decision-support tools, and emerging AI technologies, clinicians can better navigate the complexities of somatic reports. Standardization and clarity in reporting are critical to advancing precision oncology, empowering providers and patients to make informed treatment decisions and improve outcomes.
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