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市场调查报告书
商品编码
1813944
美国肿瘤分子诊断市场规模、份额和趋势分析报告:按类型、产品、技术、地区和细分市场预测,2025-2033 年U.S. Oncology Based Molecular Diagnostics Market Size, Share & Trends Analysis Report By Type (Breast Cancer, Lung Cancer), By Product (Instruments, Reagents), By Technology (PCR, Sequencing), By Region, And Segment Forecasts, 2025 - 2033 |
预计 2024 年美国肿瘤分子诊断市值将达到 14.9 亿美元,2025 年至 2033 年的复合年增长率将达到 5.2%。
推动市场发展的关键因素包括定序技术的快速发展(例如,从 Sanger 到 NGS 的转变以及奈米孔和 SMRT 等长读平台的采用),这些技术可以实现高通量和全面的基因组分析。标靶治疗治疗和泛癌生物标记(例如 HER2、EGFR 和 NTRK 融合)的日益普及正在推动对伴随诊断的需求。液态切片/ctDNA 检测等微创方法的日益普及有助于即时疾病监测和早期检测。 ddPCR 和 RNA-seq 等高灵敏度平台的进步提高了对低频突变和融合的检测,而 AI/ML 整合则增强了肿瘤起源预测。从肺腺癌到乳癌等多种肿瘤类型的临床效用的提高,再加上大型面板 CDx 检测(例如 FoundationOne CDx、MSK-IMPACT)获得监管机构的核准,进一步推动了市场成长。
美国肿瘤分子诊断 (MDx) 市场正经历强劲增长势头,这得益于技术的快速进步、精准医疗与常规癌症治疗的日益融合、支付方报销范围的扩大以及经临床检验的生物标誌物的稳步增长。过去十年,该市场已从桑格测序等单基因、低通量检测发展到全面的高通量新一代定序 (NGS) 平台,该平台能够在单一工作流程中检测各种突变、融合、拷贝数变异和微卫星不稳定性。这项技术转变缩短了周转时间并提高了灵敏度,使临床医生能够更快地做出直接影响患者预后的治疗决策。
最显着的技术驱动因素之一是快速、全自动平台的采用,例如 Biocartis 的 Idylla 系统。该系统自 2015 年在美国推出以来,稳步扩展了其肿瘤检测产品组合。 Idylla KRAS 突变检测(2016 年在美国推出)和 EGFR 突变检测(2017 年在美国推出)可直接从 FFPE 组织中获得当天的生物标记结果,无需复杂的检测基础设施。最近,Idylla 基因融合检测 (GeneFusion Assay) 于 2023 年在美国推出,可检测非小细胞肺癌 (NSCLC) 中的 ALK、ROS1、RET 和 NTRK 基因融合以及 MET 外显子 14 跳跃突变,检测时间不到 3 小时。在 USCAP 2025 年会(2025 年 3 月 22 日至 27 日)上,包括纪念斯隆凯特琳癌症中心和 MD 安德森癌症中心在内的多家独立研究机构证实,Idylla™ 检测试剂盒与 NGS 在 KRAS、EGFR 和 BRAF 突变检测方面具有高度一致性。该平台能够快速检测通常会被丢弃的细胞学上清液和细针抽吸检体,从而扩大了可检测检体的范围,凸显了其在加速启动标靶治疗的作用。
精准医疗和伴随诊断的扩展是另一个主要驱动力。自 1998 年 FDA核准首个曲妥珠单抗伴随诊断以来,市场上与特定分子检测相关的标靶治疗数量不断增加。例如,2012 年,FDA核准了cobas 4800 BRAF V600 突变检测,用于指南黑色素瘤的Vemurafenib治疗,为生物标记主导的癌症治疗开创了先例。如今,自 2009 年 NCCN 指南更新以来,转移性结直肠癌的 KRAS 突变检测已被纳入标准临床实践,使约 40% 的 KRAS 突变患者避免使用昂贵的抗 EGFR 疗法。同样,黑色素瘤的 BRAF 突变检测确保只有具有 V600E 突变的患者才能接受Vemurafenib治疗,从而提高反应率并减少不必要的药物暴露。
液态切片因其非侵入性以及即时监测疾病动态的能力,正迅速成为肿瘤诊断的标准组成部分。 DiaCarta 的 RadTox 检测计画于 2023 年在佛罗里达州推出,这是一种基于 cfDNA 的检测方法,可测量化疗和放射线治疗週期之间的治疗反应和肿瘤进展。这使肿瘤学家能够在出现抗药性时儘早调整治疗策略,避免无效方案并减轻不利事件。 DiaCarta 也推出了其他肿瘤学专用检测方法,包括用于膀胱癌復发监测的 Oncuria 和用于 BCG 治疗反应预测的 Oncuria,以解决药物短缺情况下的治疗优化问题。该公司于 2022 年推出的 ColoScape 检测可灵敏地检测大肠直肠癌特异性甲基化模式和突变,从而能够对晚期腺瘤患者进行早期疗育。
Naveris 的 NavDx 检测于 2020 年投入临床,并于 2024 年初获得美国医疗保险和医疗补助服务中心 (CMS) 的高级诊断检测 (ADLT) 认证。 NavDx 可检测血液中的肿瘤组织修饰病毒 (TTMV)-HPV DNA,从而能够在出现临床或影像学证据之前及早发现由 HPV 引发的癌症。 2024 年 7 月,加州蓝盾保险公司 (Blue Shield of California) 开始承保 NavDx,扩大了这项非侵入性、高灵敏度检测的覆盖范围。此项核保决定基于 30 多篇同行评审出版物的数据,这些出版物证明了 NavDx 在检测分子残留病灶和为 HPV 相关头颈癌的监测策略提供资讯方面的效用。
现代分子诊断技术的营运效率也正在改变肿瘤学工作流程。儘管NGS仍然是全面基因组分析的黄金标准,但其较长的周转时间可能会延迟侵袭性癌症的治疗开始。基于PCR的快速检测,例如2019年在美国推出的Idylla MSI检测,可在当天检测大肠直肠癌和其他癌症的MSI状态,从而及时确定合格免疫治疗。在2025年USCAP年会上,西奈山伊坎医学院和梅奥诊所的研究表明,Idylla™ MSI检测与传统方法高度一致,并有助于解决罕见子宫内膜癌亚型的分类差异。
从经济角度来看,分子诊断与美国医疗保健系统向价值导向医疗的转变相契合。转移性大肠直肠癌的治疗前KRAS检测已被证明可以避免无效的抗EGFR治疗,每年节省数亿美元。同样,像Oncuria这样的预测性检测可以确保将有限的卡介苗(BCG)等药物分配给最有可能产生疗效的患者,从而减少浪费并最大限度地提高临床疗效。
诸如2015年宣布的美国倡议计画等大规模倡议,持续推动生物标记的发现和检验,进一步扩大了市场上可供检测的标靶范围。随着NGS成本的下降和自动化程度的提高,人工智慧与分子诊断的整合,尤其是在肿瘤起源预测和抗药性机制分析方面的应用,预计将提升临床效用并加速其普及。伴随诊断的监管支持、支付方对其临床效用的认可,以及不断增长的真实世界证据基础,这些因素共同使分子诊断牢牢占据了美国未来癌症治疗的核心支柱地位,而2023-2025年将是市场扩张、技术成熟和广泛临床整合的关键时期。
The U.S. oncology based molecular diagnostics market size was estimated at USD 1.49 billion in 2024 and is expected to grow at a CAGR of 5.2% from 2025 to 2033. Key market driving factors for the market include the rapid evolution of sequencing technologies (e.g., shift from Sanger to NGS, adoption of long-read platforms like Nanopore and SMRT), enabling high-throughput, comprehensive genomic profiling. Increased availability of targeted therapies and pan-cancer biomarkers (e.g., HER2, EGFR, NTRK fusions) fuels demand for companion diagnostics. Rising adoption of minimally invasive methods, such as liquid biopsy/ctDNA testing, supports real-time disease monitoring and early detection. Advances in high-sensitivity platforms like ddPCR and RNA-seq improve the detection of low-frequency mutations and fusions, while AI/ML integration enhances tumor origin prediction. The growing clinical utility across multiple tumor types-from lung adenocarcinoma to breast cancer-combined with regulatory approvals for large-panel CDx assays (e.g., FoundationOne CDx, MSK-IMPACT), further accelerates market growth.
The U.S. oncology-based molecular diagnostics (MDx) market is experiencing strong growth momentum, fueled by rapid technological advancements, increasing integration of precision medicine into routine cancer care, expanding payer coverage, and a steady rise in clinically validated biomarkers. Over the past decade, the market has evolved from single-gene, low-throughput assays such as Sanger sequencing to comprehensive, high-throughput next-generation sequencing (NGS) platforms capable of detecting a broad range of mutations, fusions, copy number variations, and microsatellite instability in a single workflow. This technological shift has shortened turnaround times, improved sensitivity, and allowed clinicians to make treatment decisions faster, directly impacting patient outcomes.
One of the most notable technological drivers is the adoption of rapid, fully automated platforms such as the Idylla system by Biocartis, which has steadily expanded its oncology test portfolio since its U.S. introduction in 2015. The Idylla KRAS Mutation Test (U.S. launch in 2016) and EGFR Mutation Test (U.S. launch in 2017) enabled same-day biomarker results directly from FFPE tissue without complex laboratory infrastructure. More recently, the Idylla GeneFusion Assay, launched in 2023 in the U.S., provided detection of ALK, ROS1, RET, and NTRK gene fusions as well as MET exon 14 skipping in non-small cell lung cancer (NSCLC) with a turnaround time of under 3 hours. At the USCAP 2025 Annual Meeting (March 22-27, 2025), multiple independent studies from institutions such as Memorial Sloan Kettering and MD Anderson Cancer Center confirmed high concordance between Idylla(TM) assays and NGS for KRAS, EGFR, and BRAF mutations, while highlighting Idylla's ability to identify additional clinically relevant mutations not detected by certain competitor panels. The platform's rapid testing of cytology supernatants and fine needle aspiration samples, which would otherwise be discarded, underscores its role in expanding testable specimen types and accelerating targeted therapy initiation.
The expansion of precision medicine and companion diagnostics is another major growth driver. Since the FDA approved the first companion diagnostic for trastuzumab in 1998, the market has seen an increasing number of targeted therapies tied to specific molecular tests. For example, in 2012, the FDA approved the cobas 4800 BRAF V600 Mutation Test to guide vemurafenib therapy in melanoma, establishing a precedent for biomarker-driven oncology treatment. Today, KRAS mutation testing in metastatic colorectal cancer-integrated into standard clinical practice since NCCN guideline updates in 2009-prevents the use of costly anti-EGFR therapies in the approximately 40% of patients who harbor KRAS mutations. Similarly, BRAF mutation testing in melanoma ensures that only patients with the V600E mutation are given vemurafenib, improving response rates and reducing unnecessary drug exposure.
Liquid biopsy is rapidly becoming a standard component of oncology diagnostics due to its non-invasive nature and ability to monitor disease dynamics in real time. DiaCarta's RadTox test, deployed statewide in Florida in 2023, is a cfDNA-based assay that measures treatment response and tumor progression between cycles of chemotherapy or radiotherapy. This allows oncologists to modify treatment strategies early in cases of resistance, avoiding ineffective regimens and mitigating adverse events. DiaCarta has also launched other specialized oncology assays such as Oncuria for bladder cancer recurrence monitoring and BCG therapy response prediction, addressing treatment optimization in the face of drug shortages. The company's ColoScape test, launched in 2022, detects methylation patterns and mutations specific to colorectal cancer with high sensitivity, enabling early intervention in patients with advanced adenomas.
Naveris' NavDx test, first clinically introduced in 2020 and designated an Advanced Diagnostic Laboratory Test (ADLT) by CMS in early 2024, represents another milestone in viral oncology diagnostics. NavDx detects Tumor Tissue Modified Viral (TTMV)-HPV DNA in blood, enabling earlier detection of HPV-driven cancers before clinical or imaging evidence emerges. In July 2024, Blue Shield of California began covering NavDx, expanding access to this non-invasive, highly sensitive test. The coverage decision was based on data from over 30 peer-reviewed publications demonstrating its utility in detecting molecular residual disease and informing surveillance strategies for HPV-related head and neck cancers.
The operational efficiency of modern molecular diagnostics is also transforming oncology workflows. While NGS remains the gold standard for comprehensive genomic profiling, its longer turnaround times can delay treatment initiation in aggressive cancers. Rapid PCR-based assays such as the Idylla MSI Test, launched in the U.S. in 2019, deliver same-day MSI status for colorectal and other cancers, enabling timely decisions on immunotherapy eligibility. At USCAP 2025, studies from Icahn School of Medicine at Mount Sinai and the Mayo Clinic demonstrated high concordance between Idylla(TM) MSI testing and traditional methods, with the added benefit of resolving classification discrepancies in rare endometrial carcinoma subtypes.
From an economic perspective, molecular diagnostics align with the U.S. healthcare system's shift toward value-based care. Studies showed that pre-treatment KRAS testing in metastatic colorectal cancer could save hundreds of millions of dollars annually by avoiding ineffective anti-EGFR therapy. Similarly, predictive tests such as Oncuria ensure that limited supplies of drugs like BCG are allocated to patients most likely to respond, reducing waste and maximizing clinical benefit.
Large-scale initiatives such as the U.S. Precision Medicine Initiative, announced in 2015, continue to drive biomarker discovery and validation, further expanding the market's testable targets. As NGS costs decline and automation improves, the integration of artificial intelligence into molecular diagnostics-particularly for tumor origin prediction and resistance mechanism analysis-is expected to enhance clinical utility and accelerate adoption. The combination of regulatory support for companion diagnostics, payer recognition of clinical utility, and an expanding body of evidence from real-world implementation solidifies molecular diagnostics as a central pillar in the future of oncology care in the U.S., with 2023 - 2025 marking a pivotal period of market expansion, technological maturation, and broader clinical integration.
U.S. Oncology Based Molecular Diagnostics Market Report Segmentation
This report forecasts revenue growth at country level and provides an analysis of the latest trends in each of the sub-segments from 2021 to 2033. For this study, Grand View Research has segmented the U.S. oncology based molecular diagnostics market report based on product, technology, type, and region: