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Report
Rare Disease Diagnostics: Technologies and Global Markets
Market Research Report I 2024-12-05 I 131 Pages I BCC Research
Description
Report Scope
The goal of this report is to provide a comprehensive study of the global market for rare disease diagnostic clinical testing, both in terms of quantitative and qualitative data, to help readers develop business and growth strategies, assess the market landscape, analyze their positions in the current marketplace, and make informed business decisions regarding rare disease diagnostic products and services. The scope of this report includes molecular genetics, cytogenetics and biochemical clinical testing techniques.
BCC Research estimated market data for 2023 (the base year) and forecasts values for 2024 through 2029. Segmentation is based on the analysis platform, analysis target, disease class, test purpose, and region. Industry growth drivers, restraints, trends, and opportunities in the rare disease diagnostic market are discussed in detail. The report also provides information on the rare disease diagnostic market's competitive landscape and emerging trends. It also discusses significant large-scale research initiatives that impact rare disease diagnostic applications. It is fascinating to discuss global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics.
The latest news regarding new tests, acquisitions and collaborations related to the rare disease diagnostics market are covered in sufficient detail.
Report Includes
- 60 data tables and 70 additional tables
- An overview of the global market and technologies for rare disease diagnostics
- Analysis of the global market trends, with data from 2012-2023, estimates for 2024, forecasts for 2025, and projections of compound annual growth rates (CAGRs) through 2029
- Estimates of actual market size and revenue forecast for the rare disease diagnostics market, and a corresponding market share analysis based on analysis platform, target type, disease category, test purpose, and region
- A look at the global rare disease diagnostics market structure and technological innovations of the industry
- Coverage of the factors impacting market growth, trends and opportunities in major regions
- Discussion about rare disease therapies and how they influence the use of rare disease diagnostics, and details about Orphan Drug Act and other initiatives for rare diseases
- Information on 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 advancements in genomic technologies and analytical tools, and insights into stringent regulatory landscape and ethical and legal concerns
- Assessment of mergers and acquisitions, joint ventures, partnerships, and other market strategies
- A discussion of ESG challenges and practices in the industry
- Company profiles of major players within the industry, including Laboratory Corp. of America Holdings, Quest Diagnostics Inc., Illumina Inc., BGI, and Revvity
Executive Summary
Summary:
Rare diseases, though unlikely to strike any given individual, collectively impact around 400 million people worldwide, making these afflictions a significant public health priority. Many rare diseases go undiagnosed for long periods 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. The term "diagnostic odyssey" refers to the prolonged delays many patients face in obtaining an accurate diagnosis, which often leads to inappropriate treatment and disease progression. Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions.
The Orphan Drug Act (U.S.) and its companion acts in Europe and Japan have been driving rare disease diagnostic development. These acts have opened up more therapy options for rare diseases, giving impetus to developing associated rare disease diagnostics for detection, therapy guidance and monitoring applications.
Advances in genomic technologies have been a significant impetus to the rare disease diagnostics market. Around 80% of rare diseases are genetic in origin, and 50% to 75% have pediatric onset. Next-generation sequencing (NGS) technologies enable more precise and faster genetic testing, which is crucial for diagnosing rare diseases. These technologies reduce the time and cost of identifying rare genetic mutations.
Novel genomic-based therapies for rare diseases are emerging, spurred partly by the Orphan Drug Act and new genomic technologies. Approaches include gene therapies, gene editing therapies, RNA therapies, and genetic-modified cell therapies. A growing clinical pipeline for these therapies is a driving force for rare disease diagnostics in diagnostic, therapy guidance, clinical trial selection, and monitoring applications.
Rare disease initiatives and large-scale sequencing projects combine a substantial pool of scientific and medical expertise and vital resources. These efforts produce crucial data on genetic variants and phenotypes for advancing rare disease diagnostics. The collective progress from these projects creates strong momentum, serving as a significant driving force behind the growth of the rare disease diagnostics market.
Table of Contents
Chapter 1 Executive Summary
Market Outlook
Scope of Report
Market Summary
Chapter 2 Market Overview
Rare Diseases Overview
Diagnostic Odyssey
What Is Genomic Testing?
Rare Disease Clinical Assays Development and Marketing
Rare Disease Treatment
Bioinformatic Resources for Rare Disease Research and Genetic Information
Large-Scale Initiatives and Consortia
Population Sequencing Programs
Chapter 3 Market Dynamics
Market Dynamics
Market Drivers
Significant Unmet Need in Rare Disease Diagnostics
Orphan Drug Act
Advances In Gene Therapy
Rare Disease Initiatives
Advances in Genomic Technologies and Analytical Tools
Decreasing Cost of Next-Generation Sequencing (NGS)
Market Driving Forces and Their Impact on Market Growth
Market Restraints
Lack of Commercially Available IVDs for Rare Disease Diagnosis
Stringent Regulatory Landscape
Ethical and Legal Concerns
Shortage of Genetic and Rare Disease Specialists
Chapter 4 Emerging Technologies and Developments
Shift Towards a Multi-omics Approach
Artificial Intelligence (AI) and Machine Learning
Collaboration Between Rare Disease Diagnostics and Pharma Companies
Chapter 5 Market Segmentation Analysis
Segmentation Breakdown
Market Breakdown, by Analysis Platform
Next-Generation Sequencing (NGS)
Polymerase Chain Reaction (PCR)
Sanger Sequencing
Microarrays
Karyotyping and Fluorescent in Situ Hybridization (FISH)
Biochemical Testing
Market Breakdown, by Analysis Target Type
Single Genes
Multiple Genes
Whole Exome
Whole Genome
Other Genomic Variants
Protein and Other Biochemical Markers
Market Breakdown by Disease Class
Rare Cancers
Neurological Diseases
Metabolic and Endocrine Disorders
Hematology
Respiratory
Immune System and Inflammation-Related Disorders
Dermatology
Musculoskeletal
Others
Market Breakdown, by Test Purpose
Diagnosis
Screening and Early Detection
Therapy Guidance
Monitoring
Geographic Breakdown
Market Breakdown, by Region
North America
Europe
Asia-Pacific
Rest of the World
Chapter 6 Competitive Intelligence
Overview
Strategic Alliances and Developments
Chapter 7 Appendix
Methodology
Sources
Abbreviations
Company Profiles
3BILLION INC.
AMBRY GENETICS
ARUP LABORATORIES
BGI
CENTOGENE N.V.
DANTE OMICS
ILLUMINA INC.
LABORATORY CORPORATION OF AMERICA HOLDINGS
LETSGETCHECKED INC. (PRIVAPATH DIAGNOSTICS INC.)
QUEST DIAGNOSTICS INC.
REVVITY
List of Tables
Summary Table : Global Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 1 : Rare Disease Prevalence Definitions
Table 2 : Statistics for Rare Diseases
Table 3 : Most Prevalent Rare Diseases
Table 4 : Examples of Genomic Biomarkers
Table 5 : Rare Disease Diagnostics Key Genetic Analysis Platforms
Table 6 : Genome Coverage of PCR, Microarray and NGS Technology Platforms
Table 7 : NGS vs. qPCR vs. Microarrays: A Detailed Comparison
Table 8 : Multiple Paths to Market for Rare Disease Tests
Table 9 : Bioinformatic Resources for Rare Disease Research and Genetic Information
Table 10 : Impact of Large-Scale Initiatives on the Rare Disease Diagnostic Industry
Table 11 : Key Rare Disease Initiatives
Table 12 : Population Sequencing Projects
Table 13 : Pathways for Accelerated Approval of Rare Disease Therapies, by Country/Region
Table 14 : Genetic Modification Approaches for Rare Diseases
Table 15 : Distinct Features of the Genetic Modification Approaches
Table 16 : Comparison of Clinical Genomic Testing Methods for Analysis of Genomic Variants
Table 17 : Driving Forces and Their Impact on Rare Disease Diagnostic Market Growth
Table 18 : Rare Disease Diagnostics Artificial Intelligence Industry
Table 19 : Global Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 20 : NGS Applications in Rare Diseases
Table 21 : Key Forces Driving Growth in Clinical NGS and Their Implications
Table 22 : Main Ingredients for Polymerase Chain Reaction
Table 23 : Polymerase Chain Reaction Process Steps
Table 24 : Sanger Sequencing Summary
Table 25 : Sanger Sequencing Improvements
Table 26 : Molecular Genetic Testing Methods
Table 27 : Cytogenetics Testing Methods
Table 28 : Biochemical Genetics Methods
Table 29 : Global Market for Rare Disease Diagnostics, by Analysis Target, Through 2029
Table 30 : Single-Gene Disorders
Table 31 : Comparison of Techniques Employed to Study Rare Genetic Diseases
Table 32 : Comparison of Genomic Methods for Rare Disease Diagnosis
Table 33 : Global Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 34 : Rare Cancer-Focused Initiatives and Consortia
Table 35 : Selected Rare Cancer Prevalence, 2022
Table 36 : Global Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 37 : Preventive Genetic Screening Tests
Table 38 : Global Market for Rare Disease Diagnostics, by Region, Through 2029
Table 39 : NIH Funding, 2018-FY2025
Table 40 : Key FDA Programs to Support Rare Disease Research
Table 41 : North American Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 42 : North American Market for Rare Disease Diagnostics, by Analysis Target, Through 2029
Table 43 : North American Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 44 : North American Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 45 : North American Market for Rare Disease Diagnostics, by Country, Through 2029
Table 46 : U.S. Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 47 : U.S. Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 48 : Canadian Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 49 : Canadian Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 50 : Mexican Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 51 : Mexican Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 52 : Overview of Actions Taken by the EU to Address Challenges in the Field of Rare Diseases Diagnosis
Table 53 : European Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 54 : European Market for Rare Disease Diagnostics, by Analysis Target, Through 2029
Table 55 : European Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 56 : European Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 57 : European Market for Rare Disease Diagnostics, by Country, Through 2029
Table 58 : German Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 59 : German Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 60 : U.K. Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 61 : U.K. Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 62 : French Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 63 : French Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 64 : Italian Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 65 : Italian Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 66 : Spanish Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 67 : Spanish Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 68 : Rest of European Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 69 : Rest of European Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 70 : Asia-Pacific Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 71 : Asia-Pacific Market for Rare Disease Diagnostics, by Analysis Target, Through 2029
Table 72 : Asia-Pacific Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 73 : Asia-Pacific Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 74 : Asia-Pacific Market for Rare Disease Diagnostics, by Country, Through 2029
Table 75 : Chinese Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 76 : Chinese Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 77 : Japanese Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 78 : Japanese Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 79 : Australian Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 80 : Australian Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 81 : South Korean Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 82 : South Korean Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 83 : Rest of Asia-Pacific Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 84 : Rest of Asia-Pacific Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 85 : RoW Market for Rare Disease Diagnostics, by Analysis Platform, Through 2029
Table 86 : RoW Market for Rare Disease Diagnostics, by Analysis Target, Through 2029
Table 87 : RoW Market for Rare Disease Diagnostics, by Disease Class, Through 2029
Table 88 : RoW Market for Rare Disease Diagnostics, by Test Purpose, Through 2029
Table 89 : Report Sources
Table 90 : Abbreviations Used in Rare Disease Diagnostics: Technologies and Global Market
Table 91 : 3billion Inc.: Company Snapshot
Table 92 : 3billion Inc.: Product Portfolio
Table 93 : 3billion Inc.: News/Key Developments, 2023 and 2024
Table 94 : Ambry Genetics: Company Snapshot
Table 95 : Ambry Genetics: Product Portfolio
Table 96 : Ambry Genetics: News/Key Developments, 2023 and 2024
Table 97 : ARUP Laboratories: Company Snapshot
Table 98 : ARUP Laboratories: Product Portfolio
Table 99 : ARUP Laboratories: News/Key Developments, 2022 and 2023
Table 100 : BGI: Company Snapshot
Table 101 : BGI: Financial Performance, FY 2022 and 2023
Table 102 : BGI: Product Portfolio
Table 103 : BGI: News/Key Developments, 2022-2024
Table 104 : Centogene N.V.: Company Snapshot
Table 105 : Centogene N.V.: Financial Performance, FY 2022 and 2023
Table 106 : Centogene N.V.: Product Portfolio
Table 107 : Centogene N.V.: News/Key Developments, 2023 and 2024
Table 108 : Dante Omics: Company Snapshot
Table 109 : Dante Omics: Product Portfolio
Table 110 : Dante Omics: News/Key Developments, 2022 and 2023
Table 111 : Illumina Inc.: Company Snapshot
Table 112 : Illumina Inc.: Financial Performance, FY 2022 and 2023
Table 113 : Illumina Inc.: Product Portfolio
Table 114 : Illumina Inc.: News/Key Developments, 2021-2024
Table 115 : Laboratory Corporation of America Holdings: Company Snapshot
Table 116 : Laboratory Corporation of America Holdings: Financial Performance, FY 2022 and 2023
Table 117 : Laboratory Corporation of America Holdings: Product Portfolio
Table 118 : Laboratory Corporation. of America Holdings: News/Key Developments, 2023 and 2024
Table 119 : LetsGetChecked Inc. (PrivaPath Diagnostics Inc.): Company Snapshot
Table 120 : LetsGetChecked Inc. (PrivaPath Diagnostics Inc.): Product Portfolio
Table 121 : LetsGetChecked Inc. (PrivaPath Diagnostics Inc.): News/Key Developments, 2023
Table 122 : Quest Diagnostics Inc.: Company Snapshot
Table 123 : Quest Diagnostics Inc.: Financial Performance, FY 2022 and 2023
Table 124 : Quest Diagnostics Inc.: Product Portfolio
Table 125 : Quest Diagnostics Inc.: News/Key Developments, 2023 and 2024
Table 126 : Revvity: Company Snapshot
Table 127 : Revvity: Financial Performance, FY 2022 and 2023
Table 128 : Revvity: Product Portfolio
Table 129 : Revvity: News/Key Developments, 2022-2024
List of Figures
Summary Figure : Global Market Shares of Rare Disease Diagnostics, by Disease Class, 2023
Figure 1 : Market Dynamics of Rare Disease Diagnostics
Figure 2 : FDA Approval for Orphan Drugs, 2020-2023
Figure 3 : Cost Per Genome, November 2017-May 2022
Figure 4 : Phase-Out Plan of FDA's Enforcement Discretion Approach
Figure 5 : Global Market Shares of Rare Disease Diagnostics, by Analysis Platform, 2023
Figure 6 : Global Market Shares of Rare Disease Diagnostics, by Analysis Target, 2023
Figure 7 : Global Market Shares of Rare Disease Diagnostics, by Disease Class, 2023
Figure 8 : Global Market Shares of Rare Disease Diagnostics, by Test Purpose, 2023
Figure 9 : Global Market for Rare Disease Diagnostics, by Region, 2021-2029
Figure 10 : Global Market Shares of Rare Disease Diagnostics, by Region, 2023
Figure 11 : NIH Funding for Rare Diseases, 2018-2025E
Figure 12 : North American Market Shares of Rare Disease Diagnostics, by Country, 2023
Figure 13 : European Market Shares of Rare Disease Diagnostics, by Country, 2023
Figure 14 : Asia-Pacific Market Shares of Rare Disease Diagnostics, by Country, 2023
Figure 15 : Centogene N.V.: Revenue Share, by Business Unit, FY 2023
Figure 16 : Centogene N.V.: Revenue Shares, by Country/Region, FY 2023
Figure 17 : Illumina Inc.: Revenue Share, by Business Unit, FY 2023
Figure 18 : Illumina Inc.: Revenue Shares, by Country/Region, FY 2023
Figure 19 : Laboratory Corporation of America Holdings: Revenue Shares, by Business Unit, FY 2023
Figure 20 : Quest Diagnostics Inc.: Revenue Shares, by Business Unit, FY 2023
Figure 21 : Revvity: Revenue Shares, by Business Unit, FY 2023
Figure 22 : Revvity: Revenue Shares, by Country/Region, FY 2023
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