肿瘤学、遗传性疾病和 NIPT 的分子诊断（2023-2028）

近几十年来，用于研究和诊断目的的各种新基因技术的引入为许多领域带来了革命性的变化，并开闢了医学的新领域。 例如，新一代定序（NGS）技术因其相对较低的成本和全面的洞察力，已广泛应用于遗传疾病领域，并在肿瘤学领域迅速发展。 此外，原位杂交技术 (ISH)，例如 FISH，对于了解原位基因表现和遗传变化至关重要。 儘管应用领域在许多方面有所不同，但肿瘤学和遗传疾病领域不仅共享所用技术的大部分进展，而且它们之间也有显着的重迭和桥樑。

癌症检测正在成熟，成为精准医学，众多生物标记对于准确的患者诊断、治疗选择、治疗监测和癌症復发的早期检测至关重要。 不幸的是，随着已开发国家癌症统计数字的增加，技术创新至关重要。 癌症检测的成长率往往高于其他体外诊断领域。 现在比以往任何时候都更需要有效癌症筛检的诊断测试。 在本报告付印时，已经发生了一些重要的进展。 新试剂、生物资讯学、定序技术和组织学的改进是这份多面向报告的趋势。 其中许多进步首先转化为测试即服务，通常是 LDT（非药物测试），但也转化为 FDA 批准的测试和 CE-IVD 测试。 该行业的重要性体现在公司之间的高度活跃，其中一家或两家公司都参与癌症诊断。 人们正在进行许多尝试，特别是在伴随诊断领域。

此外，罕见遗传疾病和NIPT（非侵入性产前检测）领域都是医学突破的新兴领域。 随着基因组资料库以及有关遗传疾病的知识呈指数级增长，人们转向新的工具和用途。 新生儿筛检是遗传疾病检测的早期例子，但更多的应用正在出现。 携带者筛检可用于识别健康个体是否患有某种遗传疾病的隐性突变，因此，如果父母另一方也是该遗传疾病的携带者，则这种疾病可以遗传给后代。 产前检测可用于识别患有染色体异常或基因突变的胎儿，从而导致分娩时受影响的婴儿。 反覆流产的女性可以接受检查，以确定是否有遗传原因，或胎儿是否因遗传性疾病而无法存活。 可以估计和预测遗传性癌症的风险并调整生活习惯和检测频率。

本报告涵盖了肿瘤学、罕见遗传疾病、遗传性疾病和 NIPT 分子诊断检测中的这些技术和其他技术和应用。 技术细分市场也全面覆盖。 本报告提供了以下用于分子测试的 IVD 细分市场的详细市场数据：

肿瘤分子诊断市场：依细分市场划分（2023-2028）

• 肿瘤检测（含 CDx）
• 大肠癌分子筛检
• ISH/FISH
• HPV
• CTC

罕见遗传疾病和 NIPT 的分子诊断市场：按细分市场划分（2023-2028 年）

• 产前检测 - NIPT
• 遗传疾病检测与分析

按地区划分的市场和预测

按地区划分，北美是最大的市场，但与亚太地区和其他国家（RoW）相比，其成长率相当低。 由于新技术市场的发展、政府法规和标准的变化、合资企业和商业联盟，市场进入者有充足的机会。 本报告衡量并预测了世界每个地区的市场规模：

• 亚太肿瘤、气象遗传疾病及NIPT分子诊断市场（2023-2028）
• 欧洲肿瘤、气象遗传疾病与 NIPT 分子诊断市场（2023-2028 年）
• 北美肿瘤、气象遗传疾病与NIPT分子诊断市场（2023-2028）
• 其他国家（RoW）肿瘤、气象遗传疾病及NIPT分子诊断市场（2023-2028）

主要和专业公司的评论

本报告提供了有关市场上或正在开发的各种技术和测试的详细资讯、各细分市场的趋势以及包括以下公司在内的主要公司的概况：

目录

第 1 章执行摘要

第 2 章概述/趋势

• DNA/RNA 变异体
• 广泛使用的癌症标记物
• 遗传性癌症诊断中的分子诊断
• 遗传疾病的遗传特征
• 血栓形成倾向/凝血
• 新领域遗传疾病检测
• 遗传分析中所使用的技术
• 聚合□炼式反应 (PCR)
• 原位杂交 (ISH)
• 次世代定序 (NGS)

第三章肿瘤的分子诊断与基因检测

• 简介
• LDT（未经药品法规批准的测试）用于诊断、预后、筛检和个人化医疗
• 伴随诊断
• 药物诊断测试
• 药物基因匹配的预测生物标记测试
• 组织架构的建立/ISH/FISH
• 在 HPV 检测中的重要用途
• 液体活检
• 次世代定序
• ctDNA/cfDNA 测试
• 大肠癌筛检
• 循环肿瘤细胞
• ctDNA 检测公司与技术
• 外泌体定序
• 液体切片的未来
• 人工智慧在液体切片中的应用

第四章罕见遗传疾病/NIPT/新生儿检测

• 简介
• 产前/新生儿检查
• 非侵入性产前检测 (NIPT)
• LDT用于产前和遗传疾病筛检和检测
• 血栓形成和凝血标记物

第五章市场分析与企业併购 (M&A) 活动

• 简介
• 市场报酬与预测
• 市场驱动因素/挑战
• 分子诊断所需的临床实用性
• 气象疾病临床治疗：逐步启动
• 科技与医学的进步：渐进性
• 企业併购 (M&A)

第六章公司简介

• Abbott
• Agilent Technologies
• Ambry Genetics
• Beckman Coulter
• Becton, Dickinson and Company
• BGI Genomics
• Bio-Rad
• Biocartis
• Biocept
• Biodesix
• Epic Sciences
• Exact Sciences
• Exosome Diagnostics
• Foundation Medicine
• Guardant Health
• Hologic
• Illumina
• LungLife AI
• Myriad Genetics
• Natera
• Neogenomics
• PerkinElmer
• Qiagen
• Roche
• Sysmex Inostics
• Thermo Fisher Scientific
• Ventana Medical Systems (Roche)

In recent decades, the introduction of various new genetic technologies for research use and diagnostics has revolutionized many areas and opened new frontiers in healthcare. For example, next-generation sequencing (NGS) technologies have become widely used in genetic diseases, and have grown rapidly in oncology, due to the comprehensive insights they can provide at a relatively low cost. While older, PCR continues to be innovated and remains a central tool in molecular diagnostics laboratories of all kinds, and in situ hybridization techniques (ISH) such as FISH are still vital for understanding gene expression and genetic alterations in situ. The application areas are distinct in many ways, but the domains of oncology and inherited/genetic diseases have significant overlap and bridges between them as well as largely sharing advancements in relation to the technologies used.

Cancer testing is maturing to precision medicine, where numerous biomarkers are essential for precise diagnosis, therapy selection, therapy monitoring and early detection of cancer recurrence for the given patient. With the unfortunate rising statistics of cancer in the developed world, innovation is a must. Growth rates in cancer testing tend to be higher than in other IVD fields. Diagnostic tests for effective cancer screening are needed more than ever. As this report goes to print several significant developments are taking place. New reagents, bioinformatics, sequencing technologies, and improved histological tests are among the trends in this multifaceted report. Many of these advances are initially turned into tests as services, most often as LDTs but also FDA-approved or CE-IVD tests. The importance of this industry is seen in the flurry of activity between companies where one or both are involved in cancer diagnostics. There has been a large amount taking place in companion diagnostics in particular.

In addition, the fields of rare inherited/ genetic diseases and NIPT have become areas of new breakthroughs in healthcare. As genomic databases have grown exponentially along with knowledge about genetic diseases, there has been a shift to new tools and uses. Newborn screening was an early example of inherited/ genetic disease testing, but many additional applications have emerged. Carrier screening can be used to identify healthy individuals who carry a recessive mutation for an inherited disorder and could therefore pass the disorder on to their offspring if the other parent is also a carrier for that inherited disease. Prenatal testing can be used to identify fetuses with chromosomal abnormalities or genetic mutations that would result in the birth of an affected newborn. Women who experience recurrent miscarriages can be tested to determine if there is a genetic cause; or if their fetuses could not survive due to an inherited disorder. Inherited risk of cancer can be estimated and predicted in order to adjust lifestyle or frequency of testing.

These and other technologies and applications in oncology, rare inherited/ genetic disease, and NIPT molecular diagnostic testing are covered in the report. Segment markets of the technologies are comprehensively covered. The report contains detailed market data on the following IVD segments for their use in molecular testing:

Molecular Diagnostics in Oncology Market by Segment, 2023-2028

• Oncology assays (incl. CDx)
• Colon cancer molecular screen
• ISH/ FISH
• HPV
• CTCs

Molecular Diagnostics Market in Rare Inherited/ Genetic Diseases and NIPT by Segment, 2023-2028

• Prenatal testing - NIPT
• Genetic/inherited disease testing, assays

Regional Market and Forecast

Geographically, North America is the largest market for these areas of testing; but is experiencing slightly lower growth rates than other regions such as APAC and ROW. Ample opportunities exist for participants in the market due to the development of new technologies, changing government regulations and standards, and joint ventures and partnerships. Truly global in scope, this report provides market sizing and forecasts for regions worldwide, including:

• Asia Pacific Market for Molecular Diagnostics in Oncology, Rare Inherited/Genetic Diseases and NIPT, 2023-2028

• European Market for Molecular Diagnostics in Oncology, Rare Inherited/Genetic Diseases and NIPT, 2023-2028

• American Market for Molecular Diagnostics in Oncology, Rare Inherited/Genetic Diseases and NIPT, 2023-2028

• RoW Market for Molecular Diagnostics in Oncology, Rare Inherited/Genetic Diseases and NIPT, 2023-2028

Unparalleled Review of Top Tier Companies and Specialist Companies

The report provides extensive information about technologies and tests on the market and in development in the segments, as well as covering the top competitors in these markets including the following companies:

Table of Contents

Chapter 1: Executive Summary

• Introduction
• Oncology Molecular/Genetic Testing and Diagnostics
• Liquid Biopsy Expanding New Possibilities
  • Table 1-1: Comparison of Tissue and Liquid Biopsy
• Successes in Prenatal, Newborn Testing, Rare Genetic/Inherited Diseases
• Market Revenues
  • Table 1-2: Molecular Diagnostics in Oncology, Genetic, NIPT, Market Revenues Forecast, 2023-2028 ($M)
  • Figure 1-1: Global Genetic/Molecular Test Sales in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT, 2023-2028 ($M)
• Scope and Methodology
• Terminology Related to Companion Diagnostics, Precision/Personalized Medicine
  • Table 1-3: Industry Recognized Terms for Companion Diagnostics and Personalized Medicine

Chapter 2: Introduction and Trends

• DNA and RNA Variants
  • Table 2-1: Selected Major Biomarkers in Oncology Personalized Medicine Tests
• Cancer Markers in Widespread Usage
  • Table 2-2: Relevant DNA/RNA Variants for Top Six Cancer Types (Breast, Colon, Gastric, Liver/Biliary, Lung, Prostate)
  • Table 2-3: Relevant DNA/RNA Variants for High Incidence Cancer Types (excl. top six)
• Molecular Diagnostics in Hereditary Cancer Diagnosis
  • Table 2-4: Selected Companies Offering LDTs for Hereditary Risk of Cancer
• Genetics of Inherited Diseases
  • Table 2-5: Selected Inherited/Genetic Disorders
• Thrombophilia, Coagulation
• Inherited/Genetic Disease Tests in New Areas
  • Table 2-6: Selected Genomic Tests for Inherited Diseases
• Techniques Used in Genetic Analysis
• Polymerase Chain Reaction (PCR)
  • Table 2-7: Selected Companies Marketing Open PCR Platforms That Can be Used by Laboratories for LDTs
• In Situ Hybridization (ISH)
  • Table 2-8: Selected Advanced Histology Techniques
  • Table 2-9: Selected In Situ Hybridization-based Tests
• Next-Generation Sequencing (NGS)
  • Table 2-10: Selected Companies Marketing Next Generation Sequencing Platforms to Clinical Laboratories

Chapter 3: Oncology Molecular Diagnostics and Genetic Testing

• Introduction
  • Table 3-1: Selected Molecular Tumor Marker Test Innovations
• LDTs Used Across Diagnosis, Prognosis, Screening, Personalized Medicine
  • Table 3-2: Selected Cancer Diagnosis/Prognosis/Personalized Medicine Test Services Based on LDTs
  • Table 3-3: Selected Companies Offering LDTs for Risk of Disease - Cancer and Beyond
• Companion Diagnostics
  • Table 3-4: FDA Approved or Cleared Companion Diagnostic (CDx) Tests and Corresponding Therapies, Oncology
• Pharmacodiagnostic Tests
• Predictive Biomarker Tests for Drug-Gene Match
• Histology, ISH, FISH Established
• Significant Use in HPV Testing
  • Table 3-5: Selected HPV Test Innovations
• Liquid Biopsy
  • Table 3-6: Selected Liquid Biopsy Innovations
• Next Generation Sequencing
• ctDNA and cfDNA Testing
  • Table 3-7: Selected Liquid Biopsy Tests That Assess Multiple Analytes
  • Table 3-8: Selected Liquid Biopsy Tests for Research Use Only
• Colon Cancer Screening
• Circulating Tumor Cells
  • Table 3-9: Selected Innovations in CTC Technology
• ctDNA Testing Companies and Technologies
  • Table 3-10: Selected Market-Available ctDNA-based Liquid Biopsy Tests
• Exosome Sequencing
  • Table 3-11: Selected Exosome Test Innovations
• The Future for Liquid Biopsy
• AI in Liquid Biopsy
  • Table 3-12: Selected AI/Liquid Biopsy Initiatives

Chapter 4: Rare Inherited/Genetic Diseases, NIPT, Newborn Testing

• Introduction
• Prenatal and Newborn Testing
  • Table 4-1: Selected Molecular Tests for Prenatal Analysis
  • Table 4-2: Selected Companies and Clinical Laboratories Offering PCR-based Tests
  • Table 4-3: Selected Examples of Companies Marketing FISH Tests or Probes for Inherited Disorders
  • Table 4-4: Selected Companies and Clinical Laboratories Offering Sequencing-based Tests
  • Table 4-5: Selected Companies and Clinical Laboratories with Microarray-Based Tests
  • Table 4-6: Selected Companies with Tests for Chromosomal Abnormalities
• Non-Invasive Prenatal Testing (NIPT)
  • Table 4-7: Selected Companies Developing and/or Marketing Non-Invasive Prenatal Tests
• LDTs Used Across Prenatal and Genetic Disease Screening, Testing
  • Table 4-8: Selected Companies/Laboratories with Genetic Tests or Screening Innovations Based on LDTs
• Thrombophilia and Coagulation Markers

Chapter 5: Market Analysis and M&A Activity

• Introduction
• Market Revenues and Forecast
  • Table 5-1: Global Genetic/Molecular Test Sales in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT, by Type, 2023-2028 ($M)
  • Figure 1-1: Global Genetic/Molecular Test Sales in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT, by Type, 2023-2028 ($M)
  • Table 5-2: Global Genetic/Molecular Testing in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT - Shares, by Type, 2023-2028 (%)
  • Table 5-3: Global Genetic/Molecular Testing in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT - Regional Shares, 2023 & 2028 ($M) (%)
  • Figure 5-2: Global Genetic/Molecular Testing in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT - Regional Shares, 2023 (%)
  • Figure 5-3: Global Genetic/Molecular Testing in Oncology, Inherited/Genetic, Prenatal, Newborn, NIPT - Regional Shares, 2028 (%)
• Market Drivers and Challenges
• Clinical Utility Needed with Molecular Diagnostics
• Slowly Emerging Practices with Rare Diseases
• Incremental Nature of Technological, Medical Advances
• Mergers & Acquisitions
  • Table 5-4: Selected IVD Mergers and Acquisitions 2019-2023

Chapter 6: Company Profiles

• Abbott
• Companion Diagnostic Testing
• Liquid Biopsy
• Agilent Technologies
• Genomics
• Cytogenetic Analysis
• Dako, Companion Diagnostics
• Sequencing
• Becton, Dickinson and Company (BD)
• Cytology
• BGI Genomics
• Prenatal Testing
• MGI
• Biocept
• Exact Sciences
• Foundation Medicine
• Guardant Health
• Hologic
• Panther Molecular System
• Cytology
• Illumina
• Myriad Genetics
• Natera
• Neogenomics
• Qiagen
• Precision Medicine/Companion Diagnostics
• Liquid Biopsy
• Cervical Cancer Testing
• Roche
• Cancer Companion Testing
• HPV
• IT in Anatomical Pathology
• Sysmex Inostics
• Forging New Markets
• Thermo Fisher Scientific
• Next Generation Sequencing
• Oncology Companion Diagnostics
• Ventana Medical Systems (Roche)