종양학, 유전성 질환, NIPT용 분자진단(2023-2028년)

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)