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Rare Disease Genetic Testing: Introduction

  • More than 7000 types of rare diseases affect more than 30 million people in the U.S. alone. Approximately 80% of the rare diseases are found to be genetic.
  • Genetic testing is an advanced diagnostic tool that not only helps to identify the exact disease manifestations but also determine the underlying causes of genetic disorders
  • Genetic testing offers various benefits including confirming a diagnosis, understanding the cause of unexplained symptoms, and identifying treatment options including clinical trials

Key Drivers and Restraints of Global Rare Disease Genetic Testing Market

  • Growth of molecular biology has transformed the diagnosis and treatment of diseases. Modern test methods, based on the detection of DNA and RNA, offer several advantages over traditional methods for the detection of diseases. New procedures can detect viruses, bacteria, and genetic variations faster and much more accurately.
  • New innovative technologies such as RT-PCR and sequencing are available in the market, which provide a comparatively less expensive method of diagnosis, prognosis, and therapy selection in patients throughout their treatment plan. This helps physicians to frame appropriate therapeutic regimes for patients suffering from disease.
  • Thus, continuous improvement in the technology is expected to drive the global rare disease genetic testing market during the forecast period
  • Prevalence of autoimmune disease throughout modern societies has been increasing at a steady pace for the last few decades
  • According to Autoimmunity Reviews, autoimmune diseases are a leading cause of death in the U.S. among young and middle aged people
  • For instance, according to International Journal of Recent Scientific Research, the incidence of celiac diseases has increased in countries such as Scotland and Canada in the last 60 years
  • Thus an increase in the incidence of these diseases is a key factor that is estimated to propel the global rare disease genetic testing market during the forecast period

Next-generation Sequencing to Offer Lucrative Growth Opportunities

  • The global rare disease genetic testing market can be segmented based on technology, specialty, indication, end-user, and region
  • In terms of technology, the global rare disease genetic testing market can be classified into next generation sequencing (whole exome sequencing and whole genome sequencing), array technology, PCR - based testing, FISH, sanger sequencing, and karyotyping
  • Based on specialty, the market can be segmented into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. In terms of indication, the global rare disease genetic testing market can be segmented into neurological disorders, immunological disorders, hematology diseases, endocrine & metabolism diseases, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology diseases, and other rare diseases.
  • Based on end-user, the global market can be categorized into research laboratories & CROs, hospitals & clinics, and diagnostic laboratories

North America & Europe to Dominate Rare Disease Genetic Testing Market

  • The global rare disease genetic testing market can be segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa
  • High prevalence of different types of cancer and rising geriatric population in the region are some factors augmenting the market in North America. Rise in awareness regarding disease prevention and increasing adoption of advanced technological platforms for the development of various diagnostic tests are some factors boosting the market in Europe.

Key Players Operating in Global Rare Disease Genetic Testing Market

Leading players in the global rare disease genetic testing market include:

  • Centogene N.V.
  • 3billion, Inc.
  • Eurofins Scientific
  • Invitae Corporation

Global Rare Disease Genetic Testing Market: Research Scope

Global Rare Disease Genetic Testing Market, by Technology Type

  • Next Generation Sequencing
    • Whole Exome Sequencing
    • Whole Genome Sequencing
  • Array Technology
  • PCR - based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Global Rare Disease Genetic Testing Market, by Disease

  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine & Metabolism Diseases
  • Cancer
  • Musculoskeletal Disorders
  • Cardiovascular Disorders
  • Dermatology Diseases
  • Other Rare Diseases

Global Rare Disease Genetic Testing Market, by Specialty Type

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

Global Rare Disease Genetic Testing Market, by End-user

  • Research Laboratories & CROs
  • Hospitals & Clinics
  • Diagnostic Laboratories

This study by TMR is all-encompassing framework of the dynamics of the market. It mainly comprises critical assessment of consumers' or customers' journeys, current and emerging avenues, and strategic framework to enable CXOs take effective decisions.

Our key underpinning is the 4-Quadrant Framework EIRS that offers detailed visualization of four elements:

  • Customer Experience Maps
  • Insights and Tools based on data-driven research
  • Actionable Results to meet all the business priorities
  • Strategic Frameworks to boost the growth journey

The study strives to evaluate the current and future growth prospects, untapped avenues, factors shaping their revenue potential, and demand and consumption patterns in the global market by breaking it into region-wise assessment.

The following regional segments are covered comprehensively:

  • North America
  • Asia Pacific
  • Europe
  • Latin America
  • The Middle East and Africa

The EIRS quadrant framework in the report sums up our wide spectrum of data-driven research and advisory for CXOs to help them make better decisions for their businesses and stay as leaders.

Below is a snapshot of these quadrants.

1. Customer Experience Map

The study offers an in-depth assessment of various customers’ journeys pertinent to the market and its segments. It offers various customer impressions about the products and service use. The analysis takes a closer look at their pain points and fears across various customer touchpoints. The consultation and business intelligence solutions will help interested stakeholders, including CXOs, define customer experience maps tailored to their needs. This will help them aim at boosting customer engagement with their brands.

2. Insights and Tools

The various insights in the study are based on elaborate cycles of primary and secondary research the analysts engage with during the course of research. The analysts and expert advisors at TMR adopt industry-wide, quantitative customer insights tools and market projection methodologies to arrive at results, which makes them reliable. The study not just offers estimations and projections, but also an uncluttered evaluation of these figures on the market dynamics. These insights merge data-driven research framework with qualitative consultations for business owners, CXOs, policy makers, and investors. The insights will also help their customers overcome their fears.

3. Actionable Results

The findings presented in this study by TMR are an indispensable guide for meeting all business priorities, including mission-critical ones. The results when implemented have shown tangible benefits to business stakeholders and industry entities to boost their performance. The results are tailored to fit the individual strategic framework. The study also illustrates some of the recent case studies on solving various problems by companies they faced in their consolidation journey.

4. Strategic Frameworks

The study equips businesses and anyone interested in the market to frame broad strategic frameworks. This has become more important than ever, given the current uncertainty due to COVID-19. The study deliberates on consultations to overcome various such past disruptions and foresees new ones to boost the preparedness. The frameworks help businesses plan their strategic alignments for recovery from such disruptive trends. Further, analysts at TMR helps you break down the complex scenario and bring resiliency in uncertain times.

The report sheds light on various aspects and answers pertinent questions on the market. Some of the important ones are:

1. What can be the best investment choices for venturing into new product and service lines?

2. What value propositions should businesses aim at while making new research and development funding?

3. Which regulations will be most helpful for stakeholders to boost their supply chain network?

4. Which regions might see the demand maturing in certain segments in near future?

5. What are the some of the best cost optimization strategies with vendors that some well-entrenched players have gained success with?

6. Which are the key perspectives that the C-suite are leveraging to move businesses to new growth trajectory?

7. Which government regulations might challenge the status of key regional markets?

8. How will the emerging political and economic scenario affect opportunities in key growth areas?

9. What are some of the value-grab opportunities in various segments?

10. What will be the barrier to entry for new players in the market?

Note: Although care has been taken to maintain the highest levels of accuracy in TMR’s reports, recent market/vendor-specific changes may take time to reflect in the analysis.

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Rare Disease Genetic Testing Market

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