Description
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:
- 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)
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)
