Global Rare Disease Diagnostics Market to Reach $70.69 Billion by 2030, as per BIS Research Study

FREMONT, Calif., March 16, 2021 /PRNewswire/ -- The premium market intelligence report published by BIS Research on the Global Rare Disease Diagnostics Market highlights that the market is projected to reach $70.69 billion by 2030. The study also highlights that the market is set to witness a CAGR of 8.57% during the forecast period, 2020 and 2030,   aided primarily by the impressive growth in the underlying services market.

The comprehensive study covers the following:

• Market numbers on micro-segments that are influencing the market  
• More than 200 products present in the market 
• Market share analysis for more than 15 companies and study of data of more than 30 companies
• End user preference data for over 20 end-users 
• Detailed global and regional market share analysis, including the scrutiny of more than 15 countries 

The detailed study is a compilation of 03 Market Data Tables and 172 Figures spread through 226 Pages and an in-depth TOC on Global Rare Disease Diagnostics Market and Forecast, 2020-2030.

The study defines the impact of rare diseases on a large section of the world's population. There are around 7000 rare diseases, and for many diseases, limited information is available, thus hampering diagnostics and treatment possibilities. This also makes it difficult to differentiate between clinically similar conditions.  Rare diseases have different definitions across different countries. Rare diseases are genetically inherited and are difficult and expensive to diagnose, with few treatment options.

To gain a holistic view of the market, data from different segments of the market has been analyzed minutely. These segments include product type, sample type, end-user and market share analysis, application, and region. Each of these segments is further categorized into sub-segments and micro-segments to compile an in-depth study.

The market intelligence report by BIS Research, additionally, throws a spotlight on the opportunities existing in the global rare disease diagnostic market, including the high scope for adoption of rare disease diagnostics in emerging nations, increased use of whole-genome and whole-exome technology solutions for the development of diagnostics kits and assays and comprehensive treatment plan, and the requirement for the development of advanced solutions based on next-generation sequencing.

The end-user and pricing analysis of the global market includes data analysis on the satisfaction level of different instruments (by brand), pricing analysis, accessories & components, and consumables. The study is majorly centered on the sub-segments and micro-segments of the different product markets, such as consumables, kits, and assays. The consumables are further categorized into kits and reagents. 

To emphasize the dominance of the North America segment in the regional segmentation of the global rare disease diagnostics market in 2020 and 2030, Nitish Kumar Singh, Principal Analyst at BIS Research, states, "North America is the leading contributor in the global rare disease diagnostics market and contributed approximately 32.15% to the global market value in 2019. This region is anticipated to dominate the global market in 2030. However, the Asia-Pacific region is expected to grow with the highest CAGR during the forecast period from 2020 to 2030."

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Key insights are drawn from in-depth interviews with the key opinion leaders of more than 15 leading companies, market participants, and vendors. The key players profiled in the report include Agilent Technologies, Inc., Beijing Genomics Institute (BGI), CENTOGENE AG, Eurofins Scientific SE, Invitae Corporation, Illumina, Inc., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., PerkinElmer, Inc., and Quest Diagnostics Incorporated among others.

The study also offers strategic recommendations that can help organizations in tracking various products, trends, and technologies that are changing the dynamics of the market. The recommendations by BIS Research also offer bespoke research services to help organizations meet their objectives.

Who should buy this report?

• Manufacturers of sequencing instruments, kits, assays, and consumables
• Companies involved in manufacturing and diagnostics development of kits, assays, and consumables for sequencing
• Companies in the services market such as contract research organization
• Companies involved in developing bioinformatics tools for single-cell data analysis, visualization, sharing, and storage

How can market intelligence on rare disease diagnostics add value to an organization's decision-making process?

• Aid in product development
• Help in targeting a segment for launching a new product
• Offer detailed information on the future perspective of the emerging as well as established players
• Offer go-to-market strategies for the different source type
• Support in diversifying the product portfolio based on risk and progression of technology (DNA, RNA, and Analyte)
• Help in analyzing technological substitutes and compare the specification
• Offer tailor-made solutions based on the throughput of different consumers
• Aid in understanding the technology requirement
• Assist in exploring the newer application
• Support in analyzing the competitors' funding scenario
• Support in understanding the involvement of government health organizations such as the National Institute of Health (NIH)
• Aid in understanding the new trends in the industry

Insightful Questions Covered to Enable Companies take Strategic Decisions

• What are the possible long-term and short-term impacts of rare disease testing on the human health continuum?
• What are the major market drivers, challenges, and opportunities in rare disease testing?
• What are the key development strategies that are implemented by the major players in order to sustain in the competitive market?
• What are the key regulatory implications in developed and developing regions for the global rare disease diagnostics market?
• How are service-based companies impacting the growth of the global rare disease testing industry and further shaping up future trends?
• What are the unmet needs that are yet to be met by the global rare disease diagnostics market with respect to the application areas?
• What are the dynamics of various application areas and countries impacting the global rare disease diagnostics market?
• How is each segment of the market expected to grow during the forecast period from 2020 to 2030? Following are the segments:
• Product Type: kits and assays, panels
• Sample Type: DNA sample, buccal swab sample, blood, saliva
• Technology: capillary sequencing, whole-genome sequencing, whole-exome sequencing, microarrays
• Trait Type: inherited, acquired
• Test Type: genetic test, general lab test, imaging test
• Age Group: children, adult
• End-User: hospital laboratories, diagnostics laboratories, genetic testing laboratories, cancer research laboratories
• Who are the leading players with significant offerings to the global rare disease diagnostics market? What is the expected market dominance for each of these leading players?
• Which companies are anticipated to be highly disruptive in the future, and why?

Related Reports:

Whole Genome Exome Sequencing Market

Hereditary Genetic Testing Market

Global Non-Invasive Prenatal Testing (NIPT) Market

About BIS Research:

BIS Research, a premium market intelligence company, offers in-depth insights and consulting to Fortune 500 companies. We are established and known for tracking the growth of deep technologies across key industry verticals and the subsequent challenges and opportunities associated with deep tech across markets, applications, and products.

With more than 500 clients, over 7000 plus primary interviews, and approximately 200 reports published in a year, BIS Research has set an interesting growth trajectory for itself. We provide market estimations, emerging high-growth applications, technology analysis, highly segmented granular country-level market data, and other important market parameters that come in handy for our clients during strategic decision-making.

We publish a wide gamut of syndicated market studies across industry verticals. In addition, bespoke market studies is another area where BIS Research excels, along with consulting services.

BIS Healthcare vertical offers intelligence in the healthcare technology market for Medical Devices, Digital Health, Life Sciences, Robotics and Imaging, Information Technology, MRD testing, and other emerging healthcare technologies, covering the entire industry spectrum. In the past 5 years, BIS Healthcare has published more than 50 reports under the precision medicine banner. Additionally, BIS Research has been nominating Top 25 Voices in precision medicine on its Insight Monk platform for the past two years successfully. 

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