![]() |
市场调查报告书
商品编码
1856986
全球表观遗传诊断市场:预测至 2032 年—按产品、诊断方法、技术、应用、最终用户和地区分類的分析Epigenetics Diagnostics Market Forecasts to 2032 - Global Analysis By Product (Reagents, Kits, Instruments, Enzymes, Software & Bioinformatics Tools and Services), Diagnostic, Technology, Application, End User and By Geography |
||||||
根据 Stratistics MRC 的数据,预计到 2025 年,全球表观遗传诊断市场规模将达到 196.1 亿美元,到 2032 年将达到 606.4 亿美元,预测期内复合年增长率为 17.5%。
表观遗传诊断是指研究和分析基因表现中可遗传的变化,这些变化不涉及DNA序列本身的改变,而是由DNA甲基化、组蛋白修饰和非编码RNA活性等化学修饰引起的。这些诊断工具有助于检测影响基因活性的疾病特异性表观遗传模式,尤其是在癌症、神经系统疾病、心血管疾病和自体免疫疾病。识别这些表观遗传生物标记可以为临床医生提供疾病机制、预后和治疗反应的宝贵见解。表观遗传诊断在个人化医疗中发挥关键作用,透过早期检测、标靶治疗和精准医疗,能够改善患者的治疗效果。
据世界卫生组织称,预计到 2050 年,新增癌症病例将超过 3,500 万例,比 2022 年大幅增加 77%。
癌症和慢性病负担日益加重
表观遗传生物标记,例如DNA甲基化、组蛋白修饰和非编码RNA表达,能够实现疾病的早期检测和分层。诊断平台支援对高发病率进行非侵入性筛检、风险评估和治疗监测。与液态切片和多组体学工作流程的整合可提高临床效用并改善患者预后。随着公共卫生计画和个人化医疗计画的推进,对精准诊断的需求日益增长。这一趋势正在推动慢性病管理和分子病理学领域平台的扩展。
设备和诊断检测高成本
表观遗传学分析需要定序仪、微阵列和质谱系统等专用设备,导致高昂的购买成本和营运成本。试剂、试剂盒和样本製备流程也增加了每次检测的成本和工作流程的复杂性。小型实验室和资源有限的研究机构在没有外部资金或报销支持的情况下,难以采用先进的表观遗传学平台。缺乏经济高效的标准化检测方法阻碍了其在常规临床应用和人群筛检中的推广。这些限制因素持续阻碍分散式、预算敏感的医疗机构采用表观遗传学分析技术。
定序的进步和成本的降低
新一代定序平台支援对甲基化模式、染色质可及性和转录组谱进行高通量分析。自动化、多重定序和试剂优化正在降低每个碱基的成本并缩短週转时间。与云端基础的生物资讯学和人工智慧主导的解读相结合,提高了不同样本类型的可扩展性和可重复性。肿瘤临床试验、罕见疾病研究和群体基因组学领域对全面且经济的表观遗传分析的需求日益增长。这些趋势正在推动定序诊断平台和服务模式的整体发展。
监管和报销方面的不确定性
生物标记合格、分析验证和临床效用论证的监管要求各不相同。缺乏统一的标准和性能基准,使得核准和医保参与变得复杂。公共和私人医保机构对表观遗传学检测的报销途径仍不完善,尤其是对于新兴生物标记和多组体学检测。诊断试剂开发商在应对复杂的监管环境和证明其在各种医疗保健系统中的成本效益方面面临许多挑战。这些风险持续限制全球市场的商业化和临床应用。
疫情导致的停工、供应链中断和资源重新分配扰乱了诊断流程和研究项目。然而,随着各公司对新冠肺炎患者的免疫反应、病毒持续存在和长期后遗症进行研究,人们对錶观遗传生物标记的兴趣日益浓厚。对液态切片、远端采样和数位病理学的投资加速了平台创新和部署。消费者和临床领域对分子诊断和个人化医疗的认知度均有所提升。后疫情时代的策略已将表观遗传学作为疾病监测、风险分层和标靶治疗的核心支柱。这种转变正在加强对錶观遗传学基础设施和转化研究的长期投资。
预计在预测期内,DNA甲基化分析领域将成为最大的细分市场。
由于其临床相关性、检测技术的成熟度和在多种疾病领域的广泛适用性,预计在预测期内,DNA甲基化分析领域将占据最大的市场份额。甲基化生物标记有助于癌症、神经退化疾病和自体免疫疾病的早期检测、预后评估和治疗监测。相关平台采用亚硫酸氢盐定序、甲基化晶片和标靶PCR等技术,以高灵敏度和特异性定量分析甲基化变化。与液态切片和人工智慧辅助解读相结合,可增强非侵入性筛检和长期追踪。医院、研究机构和诊断实验室对检验且可扩展的甲基化检测方法的需求日益增长。
预计在预测期内,软体和生物资讯学工具细分市场将以最高的复合年增长率成长。
在预测期内,软体和生物资讯学工具领域预计将呈现最高的成长率,因为数据复杂性和多体学整合推动了对高阶分析的需求。平台支援对甲基化、组蛋白和转录组层面的表观遗传资料集进行预处理、标准化和统计建模。人工智慧和机器学习演算法能够实现跨临床队列的生物标记发现、疾病分类和预测建模。基于云端基础的基础设施和模组化流程提高了实验室和医院的可扩展性和可访问性。在诊断和转化研究领域,对可互通、安全且经过临床检验的生物资讯工具的互通性日益增长。
在预测期内,北美预计将占据最大的市场份额,这主要得益于其先进的医疗基础设施、充足的研究经费以及在分子诊断领域的监管参与。美国和加拿大的研究机构正在部署表观遗传学平台,将定序和生物资讯学工作流程整合到肿瘤学、神经病学和罕见疾病计画中。对精准医疗、产学研合作以及临床试验网络的投资,为这些平台的扩充性和检验提供了支持。大型诊断公司、研究中心和监管机构的存在,正在推动技术创新和标准化。这些因素共同促成了北美在表观遗传学诊断和转化医学领域的领先地位。
预计亚太地区在预测期内将呈现最高的复合年增长率,这主要得益于医疗现代化、癌症负担加重以及基因组医学计划在区域经济中的融合。中国、印度、日本和韩国等国家正在公共卫生计画、学术研究和临床诊断领域推广表观遗传学平台。政府支持的倡议正在推动基础设施建设、新创公司孵化以及生物标记发现和检测方法检验的国际合作。新兴企业企业提供经济高效且符合当地实际情况的解决方案,以满足疾病特征和合规性需求。这些趋势正在推动该地区表观遗传学诊断和个人化医疗生态系统的发展。
According to Stratistics MRC, the Global Epigenetics Diagnostics Market is accounted for $19.61 billion in 2025 and is expected to reach $60.64 billion by 2032 growing at a CAGR of 17.5% during the forecast period. Epigenetics diagnostics refers to the study and analysis of heritable changes in gene expression that do not involve alterations in the DNA sequence itself but are caused by chemical modifications such as DNA methylation, histone modification, and non-coding RNA activity. These diagnostic tools help detect disease-specific epigenetic patterns that influence gene activity, particularly in cancer, neurological, cardiovascular, and autoimmune disorders. By identifying these epigenetic biomarkers, clinicians can gain valuable insights into disease mechanisms, prognosis, and response to therapy. Epigenetics diagnostics plays a crucial role in personalized medicine, enabling early detection, targeted treatment, and improved patient outcomes through precision healthcare.
According to the WHO, over 35 million new cancer cases are expected in 2050, marking a significant 77% increase from in 2022.
Rising cancer & chronic-disease burden
Epigenetic biomarkers such as DNA methylation, histone modification, and non-coding RNA expression enable early detection and disease stratification. Diagnostic platforms support non-invasive screening, risk profiling, and treatment monitoring across high-incidence conditions. Integration with liquid biopsy and multi-omics workflows enhances clinical utility and patient outcomes. Demand for precision diagnostics is rising across public health programs and personalized medicine initiatives. These dynamics are propelling platform expansion across chronic disease management and molecular pathology.
High cost of instruments and diagnostic assays
Epigenetic analysis requires specialized equipment such as sequencers, microarrays, and mass spectrometry systems with high capital and operational expenditure. Reagents, kits, and sample preparation protocols add to per-test cost and workflow complexity. Smaller labs and resource-constrained institutions face challenges in adopting advanced epigenetic platforms without external funding or reimbursement support. Lack of cost-effective and standardized assays hampers routine clinical use and population-scale screening. These constraints continue to hinder adoption across decentralized and budget-sensitive healthcare settings.
Advances and lower cost in sequencing
Next-generation sequencing platforms support high-throughput analysis of methylation patterns, chromatin accessibility, and transcriptomic profiles. Cost per base and turnaround time are declining due to automation, multiplexing, and reagent optimization. Integration with cloud-based bioinformatics and AI-driven interpretation improves scalability and reproducibility across diverse sample types. Demand for comprehensive and affordable epigenetic profiling is rising across oncology trials, rare disease research, and population genomics. These trends are fostering growth across sequencing-enabled diagnostic platforms and service models.
Regulatory & reimbursement uncertainty
Regulatory bodies vary in their requirements for biomarker qualification, analytical validation, and clinical utility demonstration. Lack of harmonized standards and performance benchmarks complicates approval and payer engagement. Reimbursement pathways for epigenetic tests remain underdeveloped across public and private insurers, especially for emerging biomarkers and multi-omics panels. Diagnostic developers face challenges in navigating regulatory landscapes and demonstrating cost-effectiveness across diverse healthcare systems. These risks continue to constrain commercialization and clinical integration across global markets.
The pandemic disrupted diagnostic workflows and research programs due to lockdowns, supply chain interruptions, and resource reallocation. However, interest in epigenetic biomarkers surged as researchers explored immune response, viral persistence, and long-term sequelae across COVID-19 patients. Investment in liquid biopsy, remote sampling, and digital pathology accelerated platform innovation and deployment. Public awareness of molecular diagnostics and personalized medicine increased across consumer and clinical segments. Post-pandemic strategies now include epigenetics as a core pillar of disease surveillance, risk stratification, and therapeutic targeting. These shifts are reinforcing long-term investment in epigenetic infrastructure and translational research.
The DNA methylation analysis segment is expected to be the largest during the forecast period
The DNA methylation analysis segment is expected to account for the largest market share during the forecast period due to its clinical relevance, assay maturity, and broad applicability across disease areas. Methylation biomarkers support early detection, prognosis, and treatment monitoring across cancer, neurodegeneration, and autoimmune disorders. Platforms use bisulfite sequencing, methylation arrays, and targeted PCR to quantify methylation changes with high sensitivity and specificity. Integration with liquid biopsy and AI-driven interpretation enhances non-invasive screening and longitudinal tracking. Demand for validated and scalable methylation assays is rising across hospitals, research institutions, and diagnostic labs.
The software & bioinformatics tools segment is expected to have the highest CAGR during the forecast period
Over the forecast period, the software & bioinformatics tools segment is predicted to witness the highest growth rate as data complexity and multi-omics integration drive demand for advanced analytics. Platforms support preprocessing, normalization, and statistical modeling of epigenetic datasets across methylation, histone, and transcriptomic layers. AI and machine learning algorithms enable biomarker discovery, disease classification, and predictive modeling across clinical cohorts. Cloud-based infrastructure and modular pipelines improve scalability and accessibility across labs and hospitals. Demand for interoperable, secure, and clinically validated bioinformatics tools is rising across diagnostics and translational research.
During the forecast period, the North America region is expected to hold the largest market share due to its advanced healthcare infrastructure, research funding, and regulatory engagement across molecular diagnostics. U.S. and Canadian institutions deploy epigenetic platforms across oncology, neurology, and rare disease programs with integrated sequencing and bioinformatics workflows. Investment in precision medicine, academic-industry partnerships, and clinical trial networks supports platform scalability and validation. Presence of leading diagnostic firms, research centres, and regulatory bodies drives innovation and standardization. These factors are propelling North America's leadership in epigenetic diagnostics and translational medicine.
Over the forecast period, the Asia Pacific region is anticipated to exhibit the highest CAGR as healthcare modernization, cancer burden, and genomic medicine initiatives converge across regional economies. Countries like China, India, Japan, and South Korea scale epigenetic platforms across public health programs, academic research, and clinical diagnostics. Government-backed initiatives support infrastructure development, startup incubation, and international collaboration across biomarker discovery and assay validation. Local firms offer cost-effective and regionally adapted solutions tailored to disease profiles and compliance needs. These trends are accelerating regional growth across epigenetic diagnostics and personalized medicine ecosystems.
Key players in the market
Some of the key players in Epigenetics Diagnostics Market include Illumina, Thermo Fisher Scientific, Cantata Bio, Bio-Rad Laboratories, PerkinElmer, Qiagen, Active Motif, Zymo Research, Abcam, Diagenode, EpiGentek Group Inc., New England Biolabs, Merck KGaA, GenScript Biotech and Creative Biolabs.
In June 2025, Thermo Fisher launched an upgraded Applied Biosystems(TM) Methyl-Seq workflow, integrating automated bisulfite conversion and AI-powered methylation analysis. The platform supports early cancer detection and epigenetic biomarker discovery across oncology and rare disease applications.
In June 2025, Illumina introduced enhanced epigenetic sequencing workflows integrated with its NovaSeq X Plus platform, supporting high-throughput analysis of DNA methylation and histone modifications. The update enables early cancer detection and precision diagnostics across oncology and rare diseases. It aligns with Illumina's push toward multi-omic profiling and AI-powered biomarker discovery.
Note: Tables for North America, Europe, APAC, South America, and Middle East & Africa Regions are also represented in the same manner as above.