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
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, 2022-202
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
