腫瘤學、遺傳性疾病和 NIPT 的分子診斷（2023-2028）

近幾十年來，用於研究和診斷目的的各種新基因技術的引入為許多領域帶來了革命性的變化，並開闢了醫學的新領域。 例如，新一代定序（NGS）技術因其相對較低的成本和全面的洞察力，已廣泛應用於遺傳疾病領域，並在腫瘤學領域迅速發展。 此外，原位雜交技術 (ISH)，例如 FISH，對於了解原位基因表現和遺傳變化至關重要。 儘管應用領域在許多方面有所不同，但腫瘤學和遺傳疾病領域不僅共享所用技術的大部分進展，而且它們之間也有顯著的重疊和橋樑。

癌症檢測正在成熟，成為精準醫學，眾多生物標記對於準確的患者診斷、治療選擇、治療監測和癌症復發的早期檢測至關重要。 不幸的是，隨著已開發國家癌症統計數字的增加，技術創新至關重要。 癌症檢測的成長率往往高於其他體外診斷領域。 現在比以往任何時候都更需要有效癌症篩檢的診斷測試。 在本報告付印時，已經發生了一些重要的進展。 新試劑、生物資訊學、定序技術和組織學的改進是這份多面向報告的趨勢。 其中許多進步首先轉化為測試即服務，通常是 LDT（非藥物測試），但也轉化為 FDA 批准的測試和 CE-IVD 測試。 該行業的重要性體現在公司之間的高度活躍，其中一家或兩家公司都參與癌症診斷。 人們正在進行許多嘗試，特別是在伴隨診斷領域。

此外，罕見遺傳疾病和NIPT（非侵入性產前檢測）領域都是醫學突破的新興領域。 隨著基因組資料庫以及有關遺傳疾病的知識呈指數級增長，人們轉向新的工具和用途。 新生兒篩檢是遺傳疾病檢測的早期例子，但更多的應用正在出現。 攜帶者篩檢可用於識別健康個體是否患有某種遺傳疾病的隱性突變，因此，如果父母另一方也是該遺傳疾病的攜帶者，則這種疾病可以遺傳給後代。 產前檢測可用於識別患有染色體異常或基因突變的胎兒，從而導致分娩時受影響的嬰兒。 反覆流產的女性可以接受檢查，以確定是否有遺傳原因，或胎兒是否因遺傳性疾病而無法存活。 可以估計和預測遺傳性癌症的風險並調整生活習慣和檢測頻率。

本報告涵蓋了腫瘤學、罕見遺傳疾病、遺傳性疾病和 NIPT 分子診斷檢測中的這些技術和其他技術和應用。 技術細分市場也全面覆蓋。 本報告提供了以下用於分子測試的 IVD 細分市場的詳細市場數據：

腫瘤分子診斷市場：依細分市場劃分（2023-2028）

• 腫瘤檢測（含 CDx）
• 大腸癌分子篩檢
• ISH/FISH
• HPV
• CTC

罕見遺傳疾病和 NIPT 的分子診斷市場：按細分市場劃分（2023-2028 年）

• 產前檢測 - NIPT
• 遺傳疾病檢測與分析

按地區劃分的市場和預測

按地區劃分，北美是最大的市場，但與亞太地區和其他國家（RoW）相比，其成長率相當低。 由於新技術市場的發展、政府法規和標準的變化、合資企業和商業聯盟，市場進入者有充足的機會。 本報告衡量並預測了世界每個地區的市場規模：

• 亞太腫瘤、氣象遺傳疾病及NIPT分子診斷市場（2023-2028）
• 歐洲腫瘤、氣象遺傳疾病與 NIPT 分子診斷市場（2023-2028 年）
• 北美腫瘤、氣象遺傳疾病與NIPT分子診斷市場（2023-2028）
• 其他國家（RoW）腫瘤、氣象遺傳疾病及NIPT分子診斷市場（2023-2028）

主要和專業公司的評論

本報告提供了有關市場上或正在開發的各種技術和測試的詳細資訊、各細分市場的趨勢以及包括以下公司在內的主要公司的概況：

目錄

第 1 章執行摘要

第 2 章概述/趨勢

• DNA/RNA 變異體
• 廣泛使用的癌症標記物
• 遺傳性癌症診斷中的分子診斷
• 遺傳疾病的遺傳特徵
• 血栓形成傾向/凝血
• 新領域遺傳疾病檢測
• 遺傳分析中所使用的技術
• 聚合□鍊式反應 (PCR)
• 原位雜交 (ISH)
• 次世代定序 (NGS)

第三章腫瘤的分子診斷與基因檢測

• 簡介
• LDT（未經藥品法規批准的測試）用於診斷、預後、篩檢和個人化醫療
• 伴隨診斷
• 藥物診斷測試
• 藥物基因匹配的預測生物標記測試
• 組織架構的建立/ISH/FISH
• 在 HPV 檢測中的重要用途
• 液體活檢
• 次世代定序
• ctDNA/cfDNA 測試
• 大腸癌篩檢
• 循環腫瘤細胞
• ctDNA 檢測公司與技術
• 外泌體定序
• 液體切片的未來
• 人工智慧在液體切片中的應用

第四章罕見遺傳疾病/NIPT/新生兒檢測

• 簡介
• 產前/新生兒檢查
• 非侵入性產前檢測 (NIPT)
• LDT用於產前和遺傳疾病篩檢和檢測
• 血栓形成和凝血標記物

第五章市場分析與企業併購 (M&A) 活動

• 簡介
• 市場報酬與預測
• 市場驅動因素/挑戰
• 分子診斷所需的臨床實用性
• 氣象疾病臨床治療：逐步啟動
• 科技與醫學的進步：漸進性
• 企業併購 (M&A)

第六章公司簡介

• 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)