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Rare Disease Diagnostics: Technologies and Global Markets

Rare Disease Diagnostics: Technologies and Global Markets

  • June 2020
  • 174 pages
  • ID: 5916250
  • Format: PDF
  • BCC Research


Table of Contents

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.

The analyst 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.

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.

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time 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.

An extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use.Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024.

By 2024, orphan drugs may make up as much as onefifth of global prescription sales.Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses.

Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inher+N13ited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), nextgeneration sequencing (NGS) and Sanger sequencing.

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