Product Code: PHM227A
The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019 at a compound annual growth rate (CAGR) of 9.5% for the forecast period of 2019 to 2024.
The cancer segment of the global rare disease diagnostics market is expected to grow from $10.2 billion in 2019 to $16.3 billion in 2024 at a CAGR of 9.8% for the forecast period of 2019 to 2024.
The non-cancer segment of the global rare disease diagnostics market is expected to grow from $6.8 billion in 2019 to $10.4 billion in 2024 at a CAGR of 9.0% for the forecast period of 2019 to 2024.
The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.
This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.
The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.
Disease categories include cardiovascular; central nervous system; endocrine and metabolic; immune and inflammation; musculoskeletal; ophthalmology; rare cancers; respiratory; and other (gastro-intestinal, Genito-urinary, dermatology and lymphatic categories.
Technology platforms include: mass spectrometry, microarrays, next-generation sequencing (NGS), PCR, Sanger sequencing and other (e.g., karyotyping, fluorescent in situ hybridization).
Test purposes include: screening and early detection, diagnosis, therapy guidance and monitoring.
Analysis targets include single gene, multi-gene panels, whole exome, whole genome, other genomic variants and proteins.
Geographical regions include the Asia-Pacific region, Europe, North America and the Rest of the World (ROW).
Industry sectors influencing rare disease diagnostics discussed in the report include next-generation sequencing, long-read sequencing, PCR, RNA therapies, gene-editing therapies, gene therapies, and genetically modified cell therapies.
More than 95 companies in the rare disease diagnostic industry are profiled in this report.
BCC Research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.
- An overview of the global markets and technologies for rare disease diagnostics and discussion on market opportunities for these technologies
- Analyses of global market trends with data from 2018, 2019 and projections of compound annual growth rates (CAGRs) through 2024
- Evaluation of current market size, market forecast and description of market driving forces
- Detailed market share analysis and quantification of rare disease diagnostics markets by disease class, indication, analysis platform, analysis target, test purpose and region
- Briefing about rare disease therapies and how they influence the use of rare disease diagnostics
- Details about Orphan Drug Act and other initiatives for rare diseases
- Coverage of the key industries associated with developing and marketing rare disease diagnostics, including the DNA sequencing industry, PCR industry, and laboratory services industry
- A look at the key industry acquisitions and strategic alliances and discussion on the key partnering trends
- Profiles of key companies in the rare disease diagnostics industry, including 10x Genomics Inc., Agilent Technologies Inc., Freenome Inc., GenapSys Inc., Illumina Inc., Myriad Genetics Inc. and PerkinElmer Inc.
Table of Contents
Chapter 1: Introduction
- Study Goals and Objectives
- Reasons for Doing the Study
- Scope of Report
- Information Sources
- Geographical Breakdown
- Analyst's Credentials
- BCC Custom Research
- Related BCC Research Reports
Chapter 2: Summary and Highlights
Chapter 3: Overview
- Rare Disease Diagnostic Technologies and Markets
- Large-Scale Initiatives and Consortia
- Rare Disease Diagnostics Market Driving Forces
- Global Rare Disease Diagnostics Markets
Chapter 4: Technology Background
- Rare Diseases
- Rare Disease Diagnostics Key Genetic Analysis Platforms
- Sanger Sequencing
- Next-Generation Sequencing
- Polymerase Chain Reaction
Chapter 5: Rare Disease Diagnostics Initiatives
- Blood Profiling Atlas
- Cancer Moon Shots Program
- China Precision Medicine Initiative
- Ending the Diagnostic Odyssey Act
- France Genomic Medicine Plan
- Friends of Cancer Research Project
- Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
- Integration of Imaging and Fluid-Based Tumor Monitoring in Cancer Therapy Program
- Liquid Biopsies and Imaging for Improved Cancer Care
- Matchmaker Exchange
- Million Veteran Program
- Precancer Atlas
- Precision Medicine Initiative
- Treehouse Childhood Cancer Initiative
- Very Rare Cancer Consortium
- Population Sequencing Programs
Chapter 6: Rare Disease Diagnostic Industries
- Sequencing Instrument Industry
- Long-Read Sequencing Industry
- Sequencing Informatic Industry
- Polymerase Chain Reaction Industry
- Genomic Medicines: Gene Therapy Industry
- Genomic Medicines: Genetically Modified Cell Therapy Industry
- Genomic Medicines: Gene Editing Therapy Industry
- Genomic Medicines: RNA Therapy Industry
- Rare Disease Diagnostics Artificial Intelligence Industry
Chapter 7: Rare Disease Diagnostics Strategic Alliances and Acquisitions
- Strategic Alliances
- Key Trends
- Alliance Summaries
Chapter 8: Rare Disease Diagnostics Markets
- Rare Disease Diagnostics Market Driving Forces
- Pressing Medical Need
- Orphan Drug Act
- Extensive Late-Stage Clinical Pipeline of Innovative Rare Disease Medicines
- Rare Disease Initiatives
- Rare Disease Diagnostics Markets
- Central Nervous System
- Metabolic and Endocrine Disorders
- Immune System and Inflammation-Related Disorders
- Rare Cancers
- Mass Spectrometry
- Next Generation Sequencing
- Polymerase Chain Reaction
- Sanger Sequencing
- Single Genes
- Multiple Genes
- Whole Genome and Whole Exome Market
- Other Genomic Variants
- Screening and Early Detection Market
- Diagnosis Market
- Therapy Guidance Market
- Monitoring Market
- North America
- Rest of the World
Chapter 9: Rare Disease Diagnostics Patents and Intellectual Property
- Rare Disease Diagnostics Patents
- Related Gene Editing Patents
- Gene-Editing Patents: Sangamo Case Study
- Gene Therapy Delivery Patents
- RNA Therapy-Related Patents
- CAR T-Cell Patents
Chapter 10: Company Profiles
- 3BILLION INC.
- 23ANDME INC.
- 10X GENOMICS INC.
- ADAPTIVE BIOTECHNOLOGIES INC.
- ADMERA HEALTH
- AGILENT TECHNOLOGIES INC.
- AMARANTUS BIOSCIENCE HOLDINGS INC.
- AMBRY GENETICS
- ARCHIMEDLIFE LABORATORIES
- ARUP LABORATORIES
- ASTRIDBIO TECHNOLOGIES KFT.
- ASURAGEN INC.
- ATHENA DIAGNOSTICS INC.
- BASE4 INNOVATION LTD.
- BAYLOR GENETICS
- BC PLATFORMS
- BERRY GENOMICS CO., LTD.
- BGI SHENZHEN
- BIOCEPT INC.
- BIO-RAD LABORATORIES INC.
- CEGAT GMBH
- CELLMAX LIFE
- CELSEE DIAGNOSTICS
- CENTOGENE AG
- CERGENTIS B.V.
- DANAHER CORP.
- DANTE LABS
- DEVYSER AB
- DIACARTA INC.
- DIRECTED GENOMICS LLC
- DNANEXUS INC.
- ELECTRONIC BIOSCIENCES
- EPIC SCIENCES INC.
- EUROFINS SCIENTIFIC
- EXPEDEON AG
- FABRIC GENOMICS
- FREENOME INC.
- FULGENT GENETICS
- FUSION GENOMICS CORP.
- GENAPSYS INC.
- GENEDX INC.
- GENEMIND BIOSCIENCES CO., LTD.
- GENETICS RESEARCH LLC
- GENOMATIX SOFTWARE GMBH
- GENOMIC EXPRESSION
- GENOME PROFILING LLC
- GENOMNIA SRL
- GENEXOSOME TECHNOLOGIES INC.
- GIGAGEN INC.
- GOLDEN HELIX
- GRANDOMICS BIOSCIENCES CO., LTD.
- HELIX OPCO LLC
- HTG MOLECULAR DIAGNOSTICS INC.
- ILLUMINA INC.
- INVITAE INC.
- KINGMED DIAGNOSTICS CENTER CO., LTD.
- LABORATORY CORP. OF AMERICA INC.
- LABORATORY FOR MOLECULAR MEDICINE
- LEUCINE RICH BIO PVT., LTD.
- LOOP GENOMICS
- MACROGEN INC.
- MAYO MEDICAL LABORATORIES
- MEDGENOME LABS PVT., LTD.
- MOLECULAR LOOP BIOSOLUTIONS LLC
- MYRIAD GENETICS INC.
- NEW ENGLAND BIOLABS
- NEWGENE LTD.
- NOSTROS GENOMICS
- NOVOGENE CO., LTD.
- OXFORD NANOPORE TECHNOLOGIES LTD.
- PACIFIC BIOSCIENCES OF CALIFORNIA INC.
- PERKINELMER INC.
- PERSONAL GENOME DIAGNOSTICS INC.
- PREVENTIONGENETICS INC.
- Q-STATE BIOSCIENCES
- QUANTAPORE INC.
- QUANTUM BIOSYSTEMS INC.
- QUEST DIAGNOSTICS INC.
- REAL-TIME GENOMICS INC.
- ROCHE HOLDING AG
- SEVEN BRIDGES GENOMICS INC.
- SISTEMAS GENOMICOS SL
- SOFTGENETICS LLC
- SOPHIA GENETICS
- SPERA MEDICAL
- STRAND LIFE SCIENCES PVT., LTD.
- SUPRATECH MICROPATH LABORATORY & RESEARCH INSTITUTE PVT., LTD.
- THERMO FISHER SCIENTIFIC INC.
- TWIST BIOSCIENCE
List of Tables
- Summary Table: Global Rare Disease Diagnostics Market, by Disease Category, Through 2024
- Table 1: Report Scope of Rare Disease Diagnostics
- Table 2: Impact of Large-Scale Initiatives on the Rare Disease Diagnostic Industry
- Table 3: Driving Forces of Rare Disease Diagnostics Industry Growth, Through 2024
- Table 4: Global Rare Disease Diagnostics Market, by Diagnostics Platform, Through 2024
- Table 5: Rare Disease Prevalence Definition in the U.S., Europe and Japan
- Table 6: Pathways for Accelerated Approval of Rare Disease Therapies, by Country/Region
- Table 7: Genetic Modification Approaches for Rare Diseases
- Table 8: Distinct Features of the Genetic Modification Approaches
- Table 9: Clinical Trials for Advanced Rare Disease Therapies, by Therapy Approach, December 2019
- Table 10: Clinical Trials for Advanced Rare Disease Therapies, by Disease Indication, December 2019
- Table 11: Rare Disease Diagnostics Key Genetic Analysis Platforms
- Table 12: Sanger Sequencing Summary
- Table 13: Sanger Sequencing Improvements
- Table 14: Advanced Sequencing Technologies
- Table 15: Illumina Next-Generation Sequencing Workflow
- Table 16: Thermo Fisher Next-Generation Sequencing Workflow
- Table 17: Main Ingredients for Polymerase Chain Reaction
- Table 18: Polymerase Chain Reaction Process Steps
- Table 19: Advantages of Droplet Digital Polymerase Chain Reaction for Single-Cell Analysis
- Table 20: Key Rare Disease Initiatives
- Table 21: Population Sequencing Projects
- Table 22: Advanced Sequencing Industry Company Positioning
- Table 23: End-to-End Sequencing Approaches
- Table 24: Market Focus of the Long-Read Sequencing Industry, by Company
- Table 25: Market Focus of Sequencing Informatic Industry, by Company
- Table 26: Market Focus of Polymerase Chain Reaction Industry, by Company
- Table 27: Gene Therapy Companies, 2020
- Table 28: Genetically Modified Cell Therapy Clinical Industry, 2020
- Table 29: Clinical Stage Gene Editing Industry, by Company
- Table 30: Competitive Platforms: B-Thalassemia
- Table 31: Competitive Platforms: LCA
- Table 32: RNA Therapy Segments
- Table 33: RNA Therapies Industry, by Company
- Table 34: Rare Disease Diagnostics Artificial Intelligence Industry
- Table 35: Rare Disease Diagnostics Industry Acquisitions, April 2018-April 2020
- Table 36: Rare Disease Diagnostics Industry Strategic Alliances, April 2018-April 2020
- Table 37: Driving Forces for Rare Disease Diagnostic Growth
- Table 38: Global Market for Rare Disease Diagnostics, by Disease Class, Through 2024
- Table 39: Global Market for Rare Disease Diagnostics, by Analysis Platform, Through 2024
- Table 40: Global Market for Rare Disease Diagnostics, by Analysis Target, Through 2024
- Table 41: Global Market for Rare Disease Diagnostics, by Test Purpose, Through 2024
- Table 42: Next-Generation Sequencing-Based Preventive Genetic Screening Tests
- Table 43: Global Market for Rare Disease Diagnostics, by Region, Through 2024
- Table 44: Rare Disease Diagnostics Intellectual Property Focus
- Table 45: CRISPR-Cas9 Patent Groups
- Table 46: CRISPR-Cas9 Patent Licensing Fields
- Table 47: Sangamo Collaboration Agreements Relating to ZFN Technology, Through 2019
- Table 48: Sangamo Therapeutics Patent Position, 2020
- Table 49: Oxford BioMedica Key Patents, Through 2020
- Table 50: RNA Therapy Patents and Patent Applications, by Leading Companies, Through 2019
- Table 51: CAR T-Cell Patentable Technologies, 2015-2017
- Table 52: 23andMe: Data Generated by Platforms
List of Figures
- Summary Figure: Global Rare Disease Diagnostics Market, by Disease Category, 2018-2024