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Global Rare Disease Diagnostics Market (2020 to 2030) - Focus on Disease, Trait Type, Products, Age Group, Test Type, Technology, End-user, Country Data and Competitive Landscape

Research and Markets
·8-min read

Dublin, March 16, 2021 (GLOBE NEWSWIRE) -- The "Global Rare Disease Diagnostics Market: Focus on Disease, Trait Type, Products, Age Group, Test Type, Technology, End User, Country Data (15 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030" report has been added to ResearchAndMarkets.com's offering.

The global market is predicted to grow at a CAGR of 8.57% over the forecast period of 2020-2030.

Rare disease diagnostics has grown significantly since the technology was first commercialized with whole-genome and exome sequencing, but it is important to quantify that growth and describe future trends. The genome testing industry is proliferating, and its growth is expected to continue at a torrid pace. However, there are significant challenges that may dampen future growth, if not addressed.

The unmet clinical needs for better tools to predict, diagnose, treat, and monitor diseases are acting as significant factors driving the growth of the sequencing industry. Other factors fueling the growth include increased understanding of the molecular basis of diseases, patient demand, industry investment, and regulations that allow marketing of tests without the FDA approval.

Despite rapid advanced sequencing industry growth, there are several key issues that need to be addressed to facilitate future growth. The relatively high total costs of delivering sequencing test results compared with other technology platforms, and limited coverage by payers, are the key challenges to the growth of this industry. Whole-genome and exome sequencing remain relatively costly, requiring initial equipment investment, specialized workforce requirements, and time-intensive variant interpretation.

Within the research report, the market has been segmented on the basis of disease type, product, sample, age group, testing type, technology, end user, and region. Each of these segments cover the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The exponential rise in the application of next-generation sequencing on the global level has created a buzz among companies to invest in the products and services of next-generation sequencing used for rare disease diagnostics. Due to the diverse product portfolio and intense market penetration, whole-genome and exome have been pioneers in this field and significant competitors in this market.

Based on region, North America holds the largest share, owing to improved healthcare infrastructure, rise in per capita income, and improvised reimbursement policies in the region. Apart from this, Latin America and the Asia-Pacific are anticipated to grow at the fastest CAGR during the forecast period.

Key Companies Profiled

23andMe Inc., 3billion, Inc., Agilent Technologies, Inc., Beijing Genomics Institute (BGI), CENTOGENE N.V., Eurofins Scientific SE, GENEWIZ, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, OPKO Health, PerkinElmer, Inc., Quest Diagnostics Incorporated, Travere Therapeutics, Inc.

Growth Drivers

  • Rising Prevalence of Genetic Disorders

  • Increasing Research and Development in the Field of Rare Disease Diagnostics

  • Rare Genome Projects Leading to Rise in Awareness Regarding Treatment of Disease

  • Commitment of Big Pharma and Biotech Companies to Rare Diseases

Market Challenges

  • Expensive Sequencing Procedures and Their Applications in Medical Treatments

  • High Capital Requirement Hampering the Expansion of Global Reach

  • Stringent Regulatory Standards

Market Opportunities

  • Technological Advancements in Sample Preparation for Whole Genome and Exome Sequencing in Rare Disease Sequencing

  • Huge Opportunity for Pharma and Medical Devices and Biotechnology Companies

Key Questions Answered in this Report:

  • 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 the rare disease testing?

  • What are the key development strategies being 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?

  • How is each segment of the market expected to grow during the forecast period from 2020 to 2030?

  • Who are the leading players with significant offerings to the global rare disease diagnostics market and 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?

  • 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, which are impacting the global rare disease diagnostics market?

  • What are the new market opportunities of various technologies that are influencing the growth of the global rare disease diagnostics market?

Key Topics Covered:

1 Product Definition
1.1 Inclusion and Exclusion

2 Market Scope
2.1 Scope of Work
2.2 Key Questions Answered in the Report

3 Research Methodology
3.1 Global Rare Disease Diagnostics Market: Research Methodology
3.2 Primary Data Sources
3.3 Secondary Data Sources
3.4 Market Estimation Model
3.5 Criteria for Company Profiling

4 Market Overview
4.1 Market Definition
4.2 Test During Diagnostics
4.3 Market Size and Growth Potential, $Billion, 2019-2030
4.4 COVID-19 Impact on the Global Rare Disease Diagnostics Market

5 Industry Insights
5.1 Overview
5.2 Legal Requirements and Framework in the U.S.
5.3 Legal Requirements and Framework in Europe
5.4 Legal Requirements and Framework in Asia-Pacific
5.4.1 Japan
5.5 Funding Scenario
5.6 Patent Analysis
5.6.1 Overview
5.6.2 Patent Classification
5.6.3 Regional Analysis

6 Market Dynamics
6.1 Overview
6.2 Impact Analysis
6.3 Market Drivers
6.3.1 Rising Prevalence of Genetic Disorders
6.3.2 Increasing Research and Development in the Field of Rare Disease Diagnostics
6.3.3 Rare Genome Projects Lead to Rise in Awareness Regarding Treatment of Rare Disease
6.3.4 Commitment of Big Pharma and Biotech Companies to Rare Diseases
6.4 Market Restrains
6.4.1 Expensive Sequencing Procedures and their Application in Medical Treatments
6.4.2 High Capital Requirement Hampering the Expansion of Global Reach
6.4.3 Stringent Regulatory Standards
6.5 Market Opportunities
6.5.1 Technological Advancements in Sample Preparation for Whole Genome and Exome Sequencing in Rare Disease Sequencing
6.5.2 Huge Opportunity for Pharma and Medical Devices and Biotechnology Companies

7 Competitive Landscape
7.1 Synergistic Activities
7.2 Business Expansion Activities and Others
7.3 Product Launches and Product Updates
7.4 Mergers and Acquisitions
7.5 Market Share Analysis, 2019
7.6 Growth Share Analysis
7.6.1 Growth Share Analysis (by Company)

8 Global Rare Disease Diagnostics Market (by Disease Type), $Billion, 2019-2030
8.1 Overview
8.2 Gastroenterology Disease
8.3 Endocrine and Metabolism Disorders Disease
8.4 Cardiovascular Disorders
8.5 Neurology Disease
8.6 Hematology and Oncology Disease
8.7 Dermatology Disease
8.8 Other Diseases

9 Global Rare Disease Diagnostics Market (by Trait Type), $Billion, 2019-2030
9.1 Overview
9.2 Inherited Trait
9.3 Acquired Trait

10 Global Rare Disease Diagnostics Market (by Product Type), $Billion, 2019-2030
10.1 Overview
10.2 Kits and Assays
10.3 Panels
10.4 Other Products

11 Global Rare Disease Diagnostics Market (by Age Group), $Billion, 2019-2030
11.1 Overview
11.2 Children Age Group
11.3 Adult Age Group

12 Global Rare Disease Diagnostics Market (by Test Type), $Billion, 2019-2030
12.1 Overview
12.2 Genetic Test
12.3 General Lab Test
12.4 Imaging Test
12.5 Other Tests

13 Global Rare Disease Diagnostics Market (by Technology), $Billion, 2019-2030
13.1 Overview
13.2 Next-Generation Sequencing (NGS)
13.3 Whole Exome Sequencing (WES)
13.4 Whole-Genome Sequencing (WGS)
13.5 Microarrays
13.6 Other Technologies

14 Global Rare Disease Diagnostics Market (by Sample Type), $Billion, 2019-2030
14.1 DNA Sample
14.2 Buccal Swab Sample
14.3 Blood Sample
14.4 Saliva Sample
14.5 Other Samples

15 Global Rare Disease Diagnostics Market (by End User), $Billion, 2019-2030
15.1 Overview
15.2 Hospital Laboratories
15.3 Diagnostics Laboratories
15.4 Genetic Testing Laboratories
15.5 Cancer Research Laboratories
15.6 Cancer Research Institutes
15.7 Universities Research Laboratories
15.8 Other End Users

16 Global Rare Disease Diagnostics Market (by Region), $Billion, 2019-2030
16.1 Overview
16.2 North America
16.3 Europe
16.4 Asia-Pacific
16.5 Latin America
16.6 Rest-of-the-World

17 Company Profiles
17.1 Overview
17.2 23andMe, Inc.
17.3 3billion, Inc.
17.4 Agilent Technologies, Inc.
17.5 Beijing Genomics Institute (BGI) Genomics Co., Ltd
17.6 CENTOGENE N.V.
17.7 Eurofins Scientific SE
17.8 GENEWIZ, Inc.
17.9 Illumina, Inc.
17.10 In-Depth Genomics
17.11 Invitae Corporation
17.12 Laboratory Corporation of America Holdings
17.13 Opko Health
17.14 PerkinElmer, Inc.
17.15 Quest Diagnostics Incorporated
17.16 Travere Therapeutics, Inc.

For more information about this report visit https://www.researchandmarkets.com/r/4k9o4a

CONTACT: CONTACT: ResearchAndMarkets.com Laura Wood, Senior Press Manager press@researchandmarkets.com For E.S.T Office Hours Call 1-917-300-0470 For U.S./CAN Toll Free Call 1-800-526-8630 For GMT Office Hours Call +353-1-416-8900