Rare Disease Diagnostics Market by Disease Type (Neurological Disorders, Immunological Disorders, Hematology Diseases, Cancer, Cardiovascular Disorders, Others); by Technology (Next-Generation Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Others); by Testing Type; by End-User; by Region (North America, Europe, Asia-Pacific, Latin America, Middle East and Africa): Global Forecasts 2021 To 2027

Date : Oct 2021

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Report ID : 623

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Category : Medical Devices

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Report Format:  PDF EXCEL PPT WORD

The Global Rare Disease Diagnostics Market Size was valued at USD 19.5 Bn by 2020 and is expected to reach USD 34.9 Bn by 2027, with a growing CAGR of 8.6% during the forecast period.

Rare disease is defined as any disease that affects less percentage of the population and has low prevalence as compared to other diseases. Diseases such as RPI deficiency, Huntington's disorder, Duchenne muscular Dystrophy, etc affect less volume of population.

Rare Disease Diagnostics Market

Rare Disease Diagnostics Market Dynamics

According to Labiotech.eu, around 6% of rare disease patients live in Europe and on the other hand, 7% resides in North America. Moreover, around 400 million people are suffering from rare diseases and disorders across the world. For example, the company Centogene detects 150,000 to 180,000 patients with rare diseases every year.

The driving factors for global rare disease diagnostics market include rise in prevalence of rare diseases such as porphyria, moebius syndrome, gigantism, and Wilson's diseases, growing awareness regarding orphan drugs and related treatments, and increasing mutations in genes due to external factors such as food, environment, and lifestyle.

Moreover, growing government initiatives in spreading awareness, and rise in disposable income leverage the growth of rare disease diagnostics market. However, lack of sufficient and robust clinical data, high chances of misdiagnosis and limited information about cause of diseases hinder the growth of rare disease diagnostics market.

 Global Rare Disease Diagnostics Market Segmentation:

By Diseases Type

  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Cancer
  • Cardiovascular Disorders (CVDs)
  • Others

By Technology

  • Next-Generation Sequencing (NGS)
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Others

By Testing

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

By End User

  • Research Laboratories & CRO’s
  • Diagnostic Laboratories
  • Hospitals & Clinics

By Region

  • North America
  • Europe
  • Asia-Pacific
  • Latin America
  • Middle East & Africa

The unique insights provided by this report also includes the following:

  • In-depth Value Chain Analysis
  • Opportunity Mapping
  • Sector Snapshot
  • Key Players Positioning Matrix
  • Regulatory Scenario
  • Strategies Adopted-Benchmarking Heat Map
  • Market Trends
  • Covid-19 Impact Analysis
  • Product Comparison
  • Pre & Post COVID 19 Impacts on Rare Disease Diagnostics Market
  • Competitive Landscape

Based on disease type, neurological disorder accounted for highest market share in 2020 and expected to increase more during the forecast period due to growing number of neurological defects constitutes to rare diseases

Based on diseases type, rare disease diagnostics market is broadly segmented into neurological disorders, immunological disorders, hematology diseases, cancer, and cardiovascular disorders (CVDs). Neurological diseases held the largest market share in 2020 due to the high number of neurological defects related infants patients and rising neurological health management. Moreover, the increasing number of genetic diagnostic procedures and growing prevalence of rare neurological disorders such as Guillain-Barre syndrome and Creutzfeldt-Jakod diseases is anticipated to grow the rare disease diagnostics market at significant rate.

However, hematology disorder is expected to witness the fastest market growth with highest CAGR during the forecast period due to increasing cases of aplastic anemia and myelofibrosis.

Based on technology, next generation sequencing accounted for the highest market share in 2020 due to increase in usage of whole exome sequencing

Based on technology, rare disease diagnostics market is segmented into next-generation sequencing, array technology, pcr-based testing, fish, and sanger sequencing. Next generation sequencing held the largest market share in 2020 and expected to increase more during the forecast period owing to increase in sensitivity and precision of sequencing techniques. WSE is considered as a standard diagnosis procedure for rare diseases patients. Moreover, decrease in cost of WES procedures further leverage the growth of this segment in rare disease diagnostics market.

Based on testing, molecular genetic test accounted for the highest market share in 2020 and expected to increase more during forecast period due to advances in technologies associated with clinical testing

Based on testing, rare disease diagnostics market is broadly segmented into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. Molecular genetic testing held the largest market share in 2020 due to an increase in gene investigating procedures and development in handling DNA mutations leading to genetic disorders drives the growth of this segment in market.

Biochemical genetic testing accounted for second-fastest growing segment with the highest CAGR due to rising efficiency to assess the activity of gene and related abnormalities contribute to the growth of market.

Based on end user, research laboratories & CRO’s held maximum market share in 2020 due to increase in research and development activities and growing healthcare spending

Based on end user, rare disease diagnostics market is segmented into research laboratories & CRO’s, diagnostic laboratories, and hospitals & clinics. Research laboratories & CRO’s accounted for highest market share in 2020 and expected to increase more during forecast period due to growing government spending on healthcare and increase in research-based activities. Moreover, growing molecular chromosomal diagnostics and biochemical testing boost the growth of this segment in the market.

Based on geographical region, North America dominated the market in 2020 and expected to maintain same dominance during the forecast period due to high incidence of rare diseases and presence of large volume of R&D centers

Based on geography, North America dominated the market in 2020 due to presence of large volume rare disorders registries and availability of substantial number of R&D centers. Moreover, growing ultra-rare diseases, increasing cases of child patients, and rising disposable income fuels the growth of this segment in rare disease diagnostics market. Growing investments in diagnostic procedures, rising number of patients undergoing rare diseases diagnosis further boost the growth of rare disease diagnostics market.

On the contrary, Asia Pacific is expected to register the fastest market growth with highest CAGR during forecast period. This is due to increasing attention of China towards diagnostics and advances in the treatment of rare diseases.

The report also provides an in-depth analysis of rare disease diagnostics market dynamics such as drivers, restraints, opportunities, and challenges

Drivers

  • Growing advances in medical technology
  • Increasing prevalence of rare diseases such as Guillain-Barre syndrome
  • Rising awareness regarding orphan drugs
  • Growing physicians vocality about rare diseases and their treatments

Restraints

  • Lack of sufficient clinical trial data
  • Difficulties in establishing sensitive and specific diagnostic data
  • Growing geographic variations

Opportunity

  • Emergence of key players in the market
  • Ongoing research for the unmet rare disease's treatments

Challenges  

  • Stringent regulatory policies for product approvals
  • Lack of resources for developing treatments

COVID-19 Impact on the Rare Disease Diagnostics Market Analysis

Covid-19 has highly affected the industries in terms of growth, economy, health, and mental wellbeing of every individual. In this challenging situation, every industry is trying to give best services in terms of quality and safety. Covid-19 has poorly impacted the growth of rare disease diagnostics market.  According to the survey, there was decline in number of patient registration for rare diseases. This tends to lower the growth for the development and manufacturing of rare disease diagnostics.

Moreover, pharmaceutical, and biotechnological companies focused on the manufacturing of vaccine for covid infection due to heavy influx of corona infection population. After the situation normalize, pharmaceutical companies and manufacturers aim to provide advance treatments to ensure the continuity of patient care by focusing on clinical trials.  After covid-19 wave, it is expected that companies regain their focus towards development and manufacturing of rare diseases treatment procedures.

The report also provides an in-depth analysis of key trends in rare disease diagnostics market

 

  • Advancements in scientific knowledge and technology allows the implementation of different strategies that would be profitable to support orphan rare genetic diseases
  • Partnerships for the development of companion diagnostics for rare diseases

The report also provides an in-depth analysis of recent news developments and investments

  • On May 05, 2021, Amryt Pharma acquired Chiasma, Inc. to expand their rare and orphan drug portfolio. This will help to commercialize novel treatments for rare diseases. This deal is expected to drive a potential of $1Bn revenue for Amryt Pharma
  • On December 15, 2020, AstraZeneca acquired Alexion Pharmaceuticals for rare disease treatments at worth $39 billion. This acquisition is aimed to provide a strong pipeline platform to AstraZeneca

Company Profiles and Competitive Intelligence

The key players operating in the rare disease diagnostics market are:

  • Abbott Laboratories
  • Retrophin, Inc.
  • QIAGEN N.V.
  • Illumina Inc.
  • PerkinElmer, Inc.
  • BGI
  • Partek, Inc.
  • Centogene A.G.
  • Strand Life Sciences Pvt Ltd.
  • Eurofins Scientific
  • Laboratory Corporation of America
  • Quest Diagnostics Inc.
  • Invitae Corporation
  • 3billion, Inc.
  • Arup Laboratories
  • Ambry Genetics
  • Macrogen, Inc.
  • Baylor Genetics
  • Color Genomics, Inc.
  • Health Network Laboratories

Frequently Asked Questions (FAQs)

What is the size of the global rare disease diagnostics market?

The global market was valued at USD 19.5 Bn in 2020 and is anticipated to reach USD 34.9 Bn by 2027.

What is the estimated market growth rate of rare disease diagnostics industry?

The global market is estimated to grow at a compound annual growth rate (CAGR) of 8.6% during forecast period.

What is the share of North America in rare disease diagnostics market?

In the base year 2020, North America accounted for about ~30% share in the market.

Which factor restraint the growth of global rare disease diagnostics market?

Lack of clinical data and difficulties in establishing sensitive diagnostic procedures restraint the growth of market.

What are the expert opinions on the global rare disease diagnostics market?

As per expert opinions, rising government funding for research in rare diseases, growing patient pool for rare cancer diseases, growing interest of big pharmaceutical companies towards orphan diagnostic procedures will drive the growth market.

Who are the key players in the rare disease diagnostics industry?

Few key players include, but not limit up to: Abbott Laboratories, Retrophin, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., Laboratory Corporation of America, other prominent key players

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  1.  Introduction
    1. Product Outline
    2. What are Rare Disease Diagnostics?
    3. Analysis of Rare Disease Diagnostics Market
    4. COVID -19 Impact
    5. Market Dynamics
      1. Drivers
      2. Restraints
      3. Opportunities
      4. Threats
  2. Rare Disease Diagnostics Market by Disease Type
    1. Neurological Disorders
    2. Immunological Disorders
    3. Hematology Diseases
    4. Cancer
    5. Cardiovascular Disorders (CVDs)
    6. Others
  3. Rare Disease Diagnostics Market by Technology
    1. Next-Generation Sequencing (NGS)
    2. Array Technology
    3. PCR-based Testing
    4. FISH
    5. Sanger Sequencing
    6. Others
  4. Rare Disease Diagnostics Market by Testing Type
    1. Molecular Genetic Tests
    2. Chromosomal Genetic Tests
    3. Biochemical Genetic Tests
  5. Rare Disease Diagnostics Market by End-user
    1. Research Laboratories & CROs
    2. Diagnostic Laboratories
    3. Hospitals & Clinics
  6. Regional Analysis
    1. North America
      1. US
      2. Canada
    2. Europe
      1. Germany
      2. UK
      3. France 
      4. Spain
      5. Italy
      6. Rest of Europe
    3. Asia Pacific
      1. China
      2. India
      3. Japan
      4. Australia
      5. Rest Of Asia Pacific
    4. Latin America
      1. Brazil
      2. Mexico
      3. Rest of Latin America
    5. Middle East and Africa
      1. GCC
      2. South Africa
      3. Rest of MEA
  7. Key Strategic Insights
  8. Market Analysis
    1. Opportunity Mapping
    2. Critical Success Factors
    3. Consumer Preferences
  9.  Key Market Trends / Recent Developments
  10. Competitive Scenario
    1. Mergers and Acquisitions
    2. Investments
    3. Joint Ventures
    4. New Product Launches
    5. Ranking of Key Players
  11. Key Global Players
    1. Abbott Laboratories
    2. Retrophin, Inc.
    3. QIAGEN N.V.
    4. Illumina Inc.
    5. PerkinElmer, Inc.
    6. BGI
    7. Partek, Inc.
    8. Centogene A.G.
    9. Strand Life Sciences Pvt Ltd.
    10. Eurofins Scientific
    11. Laboratory Corporation of America
    12. Quest Diagnostics Inc.
    13. Invitae Corporation
    14. 3billion, Inc.
    15. Arup Laboratories

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