Rare Disease Diagnostics: Technologies and Global Markets

Report Highlights

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019 at a compound annual growth rate (CAGR) of 9.5% for the forecast period of 2019 to 2024.

Report Includes

• 53 tables
• An overview of the global markets and technologies for rare disease diagnostics and discussion on market opportunities for these technologies
• Analyses of global market trends with data from 2018, 2019 and projections of compound annual growth rates (CAGRs) through 2024
• Evaluation of current market size, market forecast and description of market driving forces
• Detailed market share analysis and quantification of rare disease diagnostics markets by disease class, indication, analysis platform, analysis target, test purpose and region
• Briefing about rare disease therapies and how they influence the use of rare disease diagnostics
• Details about Orphan Drug Act and other initiatives for rare diseases
• Coverage of 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 key industry acquisitions and strategic alliances and discussion on the key partnering trends
• Profiles of key companies in the rare disease diagnostics industry, including 10x Genomics Inc., Agilent Technologies Inc., Freenome Inc., GenapSys Inc., Illumina Inc., Myriad Genetics Inc. and PerkinElmer Inc.

Report Scope

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

Disease categories include cardiovascular; central nervous system; endocrine and metabolic; immune and inflammation; musculoskeletal; ophthalmology; rare cancers; respiratory; and other (gastro-intestinal, Genito-urinary, dermatology and lymphatic categories.

Technology platforms include: mass spectrometry, microarrays, next-generation sequencing (NGS), PCR, Sanger sequencing and other (e.g., karyotyping, fluorescent in situ hybridization).

Test purposes include: screening and early detection, diagnosis, therapy guidance and monitoring.

Analysis targets include single gene, multi-gene panels, whole exome, whole genome, other genomic variants and proteins.

Geographical regions include the Asia-Pacific region, Europe, North America and the Rest of the World (ROW).

Industry sectors influencing rare disease diagnostics discussed in the report include next-generation sequencing, long-read sequencing, PCR, RNA therapies, gene-editing therapies, gene therapies, and genetically modified cell therapies.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

BCC Research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

Analyst Credentials

John Bergin has produced successful and highly regarded market research reports in the life science industry for BCC research for more than 10 years. Mr. Bergin has held business development and international sales and marketing positions with Corning Inc., an advanced materials company. He has also held executive management positions with IBC Advanced Technologies, a molecular recognition company specializing in separations. Mr. Bergin's extensive expertise in commercializing new technologies is reflected in his market research reports.

Mr. Bergin received a BS degree in Chemistry and Masters of Business Administration (MBA) degree from Brigham Young University and an MS degree in biotechnology from Johns Hopkins University. John Bergin is a pseudonym of the author.