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市场调查报告书
商品编码
1951213
标靶定序和定序市场-全球产业规模、份额、趋势、机会及预测(按技术、类型、应用、最终用途、地区和竞争格局划分,2021-2031年)Targeted Sequencing And Resequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Technology (Sequencing, Re-sequencing), By Type, By Application, By End use, By Region & Competition, 2021-2031F |
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全球标靶定序和重定序市场预计将从 2025 年的 62.6 亿美元成长到 2031 年的 88.8 亿美元,复合年增长率为 6.01%。
这些专注于分离和分析特定基因组区域的技术,能够实现深度且精准的变异识别,并可作为全基因组测序的一种经济高效的替代方案。推动该技术发展的主要动力是癌症和遗传疾病发病率的不断上升,这促使人们需要精准诊断来指导治疗方案的选择。此外,精准肿瘤学药物研发的快速发展也支持了这项需求,因为基因组数据对于患者分层至关重要。正如个人化医疗联盟在2024年指出的那样,FDA在2023年核准了26种新型个人化药物,这表明人们对指导这些治疗所需的标靶诊断有着强烈的需求。
| 市场概览 | |
|---|---|
| 预测期 | 2027-2031 |
| 市场规模:2025年 | 62.6亿美元 |
| 市场规模:2031年 | 88.8亿美元 |
| 复合年增长率:2026-2031年 | 6.01% |
| 成长最快的细分市场 | 定序 |
| 最大的市场 | 北美洲 |
然而,该市场在生物资讯学和数据解读方面面临许多障碍。高通量定序产生的大量复杂数据需要先进的计算基础设施和专业技能,才能将原始的基因资讯转化为可操作的临床见解。这项需求构成了严重的瓶颈,阻碍了这些技术在资源匮乏环境中的广泛应用。
精准医疗和个人化治疗的快速普及正在从根本上改变全球靶向测序和重测序市场,尤其是在肿瘤学领域。随着临床医生越来越重视基因组分析以实现个体化治疗,能够识别特定突变(例如 EGFR 和 BRCA)的靶向检测组合的需求正以前所未有的速度增长。这种转变源于全球疾病负担的日益加重,这需要扩充性且精准的诊断解决方案来有效管理患者照护。例如,根据美国癌症协会预测,到 2024 年,美国新增癌症病例将首次超过 200 万例,凸显了先进基因组分析工具的重要性。因此,诊断服务提供者正在迅速扩展其癌症特异性检测套组,以满足不断增长的临床需求。根据 Natera 公司于 2024 年 8 月发布的“2024 年第二季度财务业绩报告”,该公司在 2024 年第二季度进行了约 125,400 次肿瘤检测,与去年同期相比显着增长了 50.2%。
同时,用于非侵入性监测的液态生物检体应用正在扩大市场覆盖率和效用。标靶定序是这些检测的基础技术,它无需进行侵入性组织取样,即可高灵敏度地检测循环肿瘤DNA (ctDNA),用于微量残存疾病(MRD) 评估和復发监测。这项应用不仅在临床领域,而且在药物研发领域也备受关注,并且越来越多地被用于简化药物发现流程和对临床试验中的患者进行分层。 Guardant Health 于 2024 年 8 月发布的「2024 年第二季财务业绩」反映了这一趋势,报告显示,与上年相比,其为生物製药客户进行的检测数量增长了 56%,凸显了基于液态生物检体的靶向测序在支持下一代治疗治疗方法发现方面日益增长的依赖性。
全球标靶定序和定序市场成长的主要障碍在于生物资讯学和数据解读的复杂性。虽然标靶定序产生的数据总量小于全基因组分析方法,但它产生的数据集密集且复杂,需要强大的计算基础设施进行处理。主要瓶颈出现在下游分析阶段,实验室必须准确区分致病变异和良性噪音。这项任务需要复杂的生物资讯演算法和经过专门培训的人员进行结果检验,造成资源短缺,延长诊断週期并增加检测营运成本。
此外,缺乏标准化的数据框架加剧了这些挑战,分散的资讯系统难以与电子健康记录对接。这种整合不足阻碍了医疗服务提供者将原始基因组数据转化为快速的临床决策,并限制了该技术在非专业环境中的可扩展性。正如皮斯托亚联盟在2025年发布的报告所述,数据孤岛仍然是实验室的一大障碍,57%的行业受访者认为这是有效利用数据和协作的最大障碍。这项技术壁垒直接限制了市场成长,因为它阻碍了定序工作流程与标准医疗实践的顺利整合。
将人工智慧 (AI) 应用于变异解读以提高准确性已成为关键的市场差异化因素,解决了分析复杂基因组资料集的关键瓶颈。随着高通量定序产生海量原始数据,实验室正在迅速部署 AI 驱动的生物资讯流程,以自动化变异分类和致病性预测,其速度远超人工方法。这一趋势标誌着竞争优势的结构性价值转变,从物理定序工作流程转向下游资料分析和临床解读。 Tempus AI 于 2024 年 11 月发布的 2024 年第三季财务业绩凸显了这一转变,数据显示数据和业务收益同比增长 64.4%(基因组学收入增长 20.3%),并且越来越依赖 AI 驱动的洞察而非原始定序量。
同时,标靶定序的应用范围正在癌症诊断之外不断扩展,使其收入来源不再局限于核心的癌症诊断领域。诊断开发者正在将次世代定序技术应用于心臟病学、免疫学和生殖健康等领域的遗传性疾病,在这些领域,精准的基因数据对于风险评估和管理至关重要。这种拓展使医疗机构能够满足其他专科领域尚未满足的基因检测需求,同时降低癌症市场饱和的风险。 Myriard Genetics 在 2024 年 11 月的财报中展示了这项策略的有效性:该公司产前检测收入同比增长 10%,这主要得益于检测量的稳步增长以及携带者筛检和无创产前检测产品报销条款的改善。
The Global Targeted Sequencing And Resequencing Market is projected to expand from USD 6.26 Billion in 2025 to USD 8.88 Billion by 2031, registering a CAGR of 6.01%. By focusing on isolating and analyzing specific genomic regions, these techniques provide high-depth, accurate variant identification, serving as a cost-efficient alternative to whole-genome sequencing. Growth is fueled largely by the increasing incidence of cancer and genetic conditions, which drives the need for precise diagnostics to guide therapeutic choices. Additionally, the rapid advancement of drug development in precision oncology, where genomic data is essential for patient stratification, supports this demand. As noted by the Personalized Medicine Coalition in 2024, the FDA's approval of 26 new personalized medicines in 2023 indicates strong demand for the targeted diagnostics needed to direct these treatments.
| Market Overview | |
|---|---|
| Forecast Period | 2027-2031 |
| Market Size 2025 | USD 6.26 Billion |
| Market Size 2031 | USD 8.88 Billion |
| CAGR 2026-2031 | 6.01% |
| Fastest Growing Segment | Sequencing |
| Largest Market | North America |
However, the market encounters substantial hurdles related to bioinformatics and data interpretation. The massive quantities of complex data produced by high-throughput sequencing demand sophisticated computational infrastructure and specialized skills to convert raw genetic findings into practical clinical insights. This requirement creates a significant bottleneck, impeding the wider adoption of these technologies in settings with limited resources.
Market Driver
The accelerated adoption of precision medicine and personalized therapies is fundamentally reshaping the Global Targeted Sequencing And Resequencing Market, particularly within the oncology sector. As clinicians increasingly prioritize genomic profiling to tailor treatments, the demand for targeted panels that can identify specific mutations-such as EGFR or BRCA-has surged to unprecedented levels. This shift is necessitated by the growing global burden of disease, which requires scalable and precise diagnostic solutions to manage patient care effectively. For instance, according to the American Cancer Society, in 2024, the United States is projected to exceed 2 million new cancer cases for the first time, underscoring the critical need for advanced genomic tools. Consequently, diagnostic providers are witnessing a rapid uptake of their targeted oncology assays to meet this expanding clinical need. According to Natera, Inc., August 2024, in the 'Second Quarter 2024 Financial Results', the company performed approximately 125,400 oncology tests in the second quarter of 2024, representing a significant 50.2% increase compared to the same period in the previous year.
Concurrently, the emergence of liquid biopsy applications for non-invasive monitoring is expanding the market's accessibility and utility. Targeted sequencing is the technological backbone of these assays, enabling the highly sensitive detection of circulating tumor DNA (ctDNA) for minimal residual disease (MRD) assessment and recurrence monitoring without the need for invasive tissue sampling. This application has gained substantial traction not only in clinical settings but also in pharmaceutical research, where it is increasingly used to streamline drug development and stratify patients for clinical trials. Reflecting this trend, according to Guardant Health, August 2024, in the 'Second Quarter 2024 Financial Results', the company reported a 56% year-over-year increase in tests reported to biopharmaceutical customers, highlighting the growing reliance on liquid biopsy-based targeted sequencing for supporting the next generation of therapeutic discoveries.
Market Challenge
A major hurdle inhibiting the growth of the Global Targeted Sequencing And Resequencing Market is the intricacy of bioinformatics and data interpretation. Although targeted sequencing produces less total data than whole-genome approaches, it yields dense, complex datasets that necessitate robust computational infrastructure for processing. The main bottleneck occurs during downstream analysis, where laboratories must precisely differentiate between pathogenic variants and benign noise. This task requires advanced bioinformatic algorithms and expertly trained personnel to verify results, resulting in a resource deficit that extends diagnostic turnaround times and raises the operational costs of testing.
Additionally, the absence of standardized data frameworks worsens these challenges, causing fragmented information systems that struggle to interface with electronic health records. This lack of integration hinders healthcare providers from converting raw genomic data into prompt clinical decisions, thereby restricting the technology's scalability in non-specialized environments. As reported by the Pistoia Alliance in 2025, data silos continue to be a major barrier in laboratories, with 57% of industry respondents citing them as the leading obstacle to effective data usage and collaboration. This technical impediment directly limits market growth by preventing the smooth incorporation of sequencing workflows into standard medical practice.
Market Trends
The integration of Artificial Intelligence for improved variant interpretation is emerging as a key market differentiator, tackling the significant bottleneck of analyzing complex genomic datasets. With high-throughput sequencing producing immense volumes of raw data, laboratories are swiftly implementing AI-driven bioinformatics pipelines to automate variant classification and predict pathogenicity faster than manual methods allow. This trend indicates a structural shift in value, moving competitive advantage from physical sequencing workflows to downstream data analysis and clinical interpretation. Tempus AI's Third Quarter 2024 Financial Results from November 2024 highlight this shift, revealing a 64.4% year-over-year growth in data and services revenue compared to 20.3% in genomics revenue, emphasizing the growing reliance on AI-enabled insights rather than sequencing volume alone.
Concurrently, the application of targeted sequencing is expanding into non-oncology disease areas, diversifying revenue sources beyond the dominant cancer diagnostics sector. Diagnostic developers are adapting next-generation sequencing panels for hereditary conditions in cardiology, immunology, and reproductive health, where precise genetic data is vital for risk assessment and management. This expansion allows providers to offset saturation risks in oncology markets while tapping into the underserved demand for genetic testing in other specialties. Myriad Genetics validated this strategy in its November 2024 financial results, reporting a 10% year-over-year increase in prenatal testing revenue, fueled by strong volume growth and better reimbursement for its carrier screening and non-invasive prenatal products.
Report Scope
In this report, the Global Targeted Sequencing And Resequencing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:
Company Profiles: Detailed analysis of the major companies present in the Global Targeted Sequencing And Resequencing Market.
Global Targeted Sequencing And Resequencing Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report: