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.
The 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.
Report Includes:
- 53 tables
- 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
- Methodology
- Information Sources
- Geographical Breakdown
- Analyst's Credentials
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
- BabySeq
- Blood Profiling Atlas
- Cancer-ID
- Cancer Moon Shots Program
- China Precision Medicine Initiative
- ClinGen
- ClinVar
- Ending the Diagnostic Odyssey Act
- EpiFemCare
- 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
- MIND
- MedSeq
- Precancer Atlas
- Precision Medicine Initiative
- Prompt
- QuIP
- TopMed
- 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
- 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
- Cardiovascular
- Central Nervous System
- Metabolic and Endocrine Disorders
- Hematology
- Immune System and Inflammation-Related Disorders
- Musculoskeletal
- Ophthalmology
- Rare Cancers
- Respiratory
- Mass Spectrometry
- Microarray
- Next Generation Sequencing
- Polymerase Chain Reaction
- Sanger Sequencing
- Other
- Single Genes
- Multiple Genes
- Whole Genome and Whole Exome Market
- Other Genomic Variants
- Proteins
- Screening and Early Detection Market
- Diagnosis Market
- Therapy Guidance Market
- Monitoring Market
- North America
- Europe
- Asia-Pacific
- 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.
- ALCEDIAG
- 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.
- DIPLOID
- 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
- GENOMENON
- GENOMIC EXPRESSION
- GENOME PROFILING LLC
- GENOMNIA SRL
- GENOMONCOLOGY
- GENOSPACE
- GENOOX
- GENEXOSOME TECHNOLOGIES INC.
- GIGAGEN INC.
- GOLDEN HELIX
- GRANDOMICS BIOSCIENCES CO., LTD.
- GUARDIOME
- 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.
- RETROPHIN
- 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: β-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
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Executive Summary
Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.
There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.
Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.
Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.
In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.
More than 70% of rare diseases are inher+N13ited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.
Companies Mentioned
- 10X Genomics Inc.
- 23Andme Inc.
- 3Billion Inc.
- Adaptive Biotechnologies Inc.
- Admera Health
- Agilent Technologies Inc.
- Alcediag
- 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
- Bio-Rad Laboratories Inc.
- Biocept Inc.
- Cegat Gmbh
- Cellmax Life
- Celsee Diagnostics
- Centogene Ag
- Cergentis B.V.
- Danaher Corp.
- Dante Labs
- Devyser Ab
- Diacarta Inc.
- Diploid
- 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
- Genexosome Technologies Inc.
- Genomatix Software Gmbh
- Genome Profiling Llc
- Genomenon
- Genomic Expression
- Genomnia Srl
- Genomoncology
- Genoox
- Genospace
- Gigagen Inc.
- Golden Helix
- Grandomics Biosciences Co., Ltd.
- Guardiome
- 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.
- Retrophin
- 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
