희귀질환 진단 : 각종 기술과 세계 시장

The global market for rare disease diagnostics is estimated to increase from $21.6 billion in 2024 to reach $34.7 billion by 2029, at a compound annual growth rate (CAGR) of 9.9% from 2024 through 2029.

The rare cancers market for rare disease diagnostics is estimated to increase from $11.2 billion in 2024 to reach $18.2 billion by 2029, at a CAGR of 10.2% from 2024 through 2029.

The metabolic and endocrine disorders market for rare disease diagnostics is estimated to increase from $1.5 billion in 2024 to reach $2.4 billion by 2029, at a CAGR of 9.9% from 2024 through 2029.

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

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