希少疾患診断の技術と世界市場

Report Highlights

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.

希少疾患診断の世界市場は、2024 年の 216 億ドルから増加し、2024 年から 2029 年までの年間平均成長率 (CAGR) 9.9% で、2029 年までに 347 億ドルに達すると推定されています。

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.

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 Synopsis

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

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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