Global Market for Rare Disease Diagnostics to Grow at 9.9% CAGR
"Advances in Genomic Technologies and Multi-Omics Approaches Propel Rare Disease Diagnostics Market, with AI Poised to Revolutionize Clinical Interpretation"
BOSTON, Feb. 17, 2025 /PRNewswire/ -- According to the latest study from BCC Research, "Rare Disease Diagnostics: Technologies and Global Markets" is projected to increase from $21.6 billion in 2024 to $34.7 billion by the end of 2029, at a compound annual growth rate (CAGR) of 9.9% from 2024 through 2029.
This report offers quantitative and qualitative data in order to help readers develop business strategies, understand the market landscape, and make informed decisions about rare disease diagnostic products and services. The report covers molecular genetics, cytogenetics, and biochemical testing techniques. It includes market data for 2023 and forecasts for 2024 to 2029, segmented by analysis platform, target, disease class, test purpose, and region. It discusses the market drivers, restraints, trends, opportunities, and the competitive landscape, along with research initiatives and global sequencing projects that link genetic variation to rare disease diagnostics.
Global efforts to link genetic variants to rare diseases, are supported by numerous initiatives and large-scale sequencing projects. However, new FDA regulations on laboratory-developed tests (LDTs) could challenge the market in North America by increasing costs and slowing development. This makes studying the rare disease diagnostics market crucial for industry participants.
The factors driving the market include:
Significant Unmet Need in Rare Disease Diagnostics: Many rare diseases remain undiagnosed or misdiagnosed. This unmet need drives demand for advanced diagnostic tools to provide accurate and timely diagnoses.
Orphan Drug Act: This legislation provides incentives for developing treatments for rare diseases, including tax credits and market exclusivity. It encourages investment in rare disease diagnostics as part of the broader effort to develop orphan drugs.
Advances in Gene Therapy: Gene therapy offers potential cures for genetic disorders, increasing the need for precise diagnostics to identify suitable candidates for these therapies. This drives innovation in diagnostic technologies.
Rare Disease Initiatives: Government and non-profit initiatives raise awareness and funding for rare disease research and diagnostics. These initiatives support the development and adoption of new diagnostic tools.
Advances in Genomic Technologies and Analytical Tools: Innovations in genomic sequencing and bioinformatics enable more detailed and accurate analysis of genetic data, improving the diagnosis of rare diseases.
Decreasing Cost of Next-Generation Sequencing (NGS): The cost of NGS has significantly decreased, making it more accessible for routine diagnostic use. This affordability accelerates the adoption of NGS in rare disease diagnostics.
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Report Synopsis
Report Metric |
Details |
Base year considered |
2023 |
Forecast period considered |
2024-2029 |
Base year market size |
$19.7 billion |
Market size forecast |
$34.7 billion |
Growth rate |
CAGR of 9.9% for the forecast period of 2024-2029 |
Segments covered |
Analysis Platform, Analysis Target, Disease Class, Test Purpose |
Regions covered |
North America, Europe, Asia-Pacific, Rest of the World |
Countries covered |
U.S., Canada, Mexico, Germany, U.K., France, Italy, Spain, Switzerland, Denmark, Norway, Poland, Belgium, Austria, Netherlands, Sweden, Luxembourg, Finland, Estonia, Russia, China, Japan, Australia, South Korea, India, Singapore, New Zealand, Taiwan, Singapore, Malaysia, Thailand, the Philippines, Indonesia, Brazil, Turkey, Argentina, Israel, U.A.E., South Africa, Egypt, Turkey, Iran, Iraq, Peru, Columbia |
Market drivers |
• Significant unmet needs in rare disease diagnostics • Orphan Drug Act • Advances In gene therapy • Rare disease initiatives • Advances in genomic technologies and analytical tools • Dropping cost of NGS |
Interesting facts:
- Rare diseases affect over 400 million people globally, representing 2% to 6% of the world's population.
- There is no universal definition for rare diseases; their prevalence varies by region.
- Fewer than 5% of rare diseases have FDA-approved treatments.
- Many rare diseases remain undiagnosed, even with whole genome sequencing, which has a diagnostic rate of about 25%.
The report addresses the following questions:
- How big is the rare disease diagnostics market, and how fast is it growing?
The market was $19.7 billion in 2023 and is expected to grow to $34.7 billion by the end of 2029, with a yearly growth rate of 9.9%. - What market segments are covered in the report?
The analysis of the global rare disease diagnostics market includes historical data and market projections by analysis platform, analysis target, disease class, test purpose, and region. - Which analysis platform type will dominate the market in 2029?
NGS is expected to dominate the market through 2029. - Which analysis target type is growing the fastest?
The whole genome sequencing (WGS) segment is the fastest growing.
Market leaders include:
- 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
Other related reports include:
Next-generation Sequencing: Emerging Clinical Applications and Global Markets: This report covers sequencing methods, genetic variation in testing, and key research initiatives. It discusses liquid biopsy formats and market trends, providing data and forecasts for NGS diagnostics in oncology and infectious diseases. The report also examines regional markets and industry sectors, offering profiles over 100 companies and summarizing recent acquisitions and alliances.
Global Markets for Orphan Drugs: This report focuses on the use of orphan drugs in rare diseases. It examines the regulatory framework, patents, recent innovations and market projections and shares. The report includes regional analysis for North America, Europe, Asia-Pacific, and the Rest of the World. It also reviews clinical trial trends from 1999-2018, the competitive landscape, acquisition strategies, and collaborations, highlighting market strengths, weaknesses, and evolving customer needs.
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