Global Rare Disease Genetic Testing Market Size study, by Disease Type, by Technology, by Specialty, by End-Use and Regional Forecasts 2022-2032

Description

The global rare disease genetic testing market size was valued at USD 887.79 million in 2023 and is expected to expand at a compound annual growth rate (CAGR) of 14.30% from 2024 to 2032. Rare disease genetic testing involves analysing an individual's DNA to identify genetic mutations responsible for rare conditions, which affect a small percentage of the population. These tests help diagnose diseases that are often challenging to identify due to their rarity and diverse presentations. Applications of rare disease genetic testing include confirming clinical diagnoses, informing treatment decisions, guiding family planning, and enabling early intervention. It also facilitates research into the genetic basis of rare diseases, potentially leading to the development of new therapies. Additionally, genetic testing can aid in identifying carriers of genetic mutations, helping at-risk families make informed health decisions.

The rising incidence of chronic diseases such as cancer, cardiovascular diseases, and diabetes significantly drives the demand for rare disease genetic testing. With the aging global population, the prevalence of these diseases is increasing, necessitating more pathological examinations and diagnostic tests to guide treatment plans and improve patient outcomes. Advancements in genetic testing technologies, such as next-generation sequencing (NGS) and whole-exome sequencing (WES), enhance the accuracy, speed, and affordability of these tests. These technological innovations facilitate comprehensive analysis of genetic mutations, making it possible to diagnose previously challenging rare diseases accurately. Furthermore, the growing awareness and adoption of personalized medicine, which tailors treatment to individual genetic profiles, are propelling the market. Personalized medicine relies heavily on precise diagnostic information from genetic testing to identify specific genetic mutations responsible for rare diseases, enabling targeted and effective treatments. Additionally, emerging markets, particularly in Asia-Pacific and Latin America, present substantial growth opportunities due to improving healthcare infrastructure, rising disposable incomes, and increasing awareness of genetic disorders. However, the market faces significant challenges, such as the high costs of genetic testing, which can be prohibitive for many patients, particularly in low-income regions. Limited access to advanced testing facilities and the absence of reimbursement policies further restricts the widespread adoption of genetic testing for rare diseases. Addressing these barriers is crucial to ensure that genetic testing is accessible and affordable for all individuals affected by rare diseases.

In 2023, North America dominated the global rare disease genetic testing market, holding a substantial share of over 47%. This dominance can be attributed to the high incidence of rare diseases, extensive disease registries, a significant number of R&D facilities for ultra-rare diseases, and substantial investments in disease diagnosis. Conversely, the Asia Pacific region is poised to experience the fastest growth, with a projected CAGR of 18% during the forecast period. This growth is driven by increasing healthcare infrastructure development, rising disposable incomes, and growing awareness of genetic disorders in the region.

Major market players included in this report are:

Quest Diagnostics Inc.
Centogene N.V.
Invitae Corp.
3billion, Inc.
Arup Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer, Inc.
Realm IDX, Inc.
Macrogen, Inc.
Baylor Genetics
Color Genomics, Inc.
Health Network Laboratories
PreventionGenetics

The detailed segments and sub-segment of the market are explained below:

By Disease Type:

Neurological Disease
Immunological Disorders
Hematology Diseases
Endocrine & Metabolism Diseases
Cancer
Musculoskeletal Disorders
Cardiovascular Disorders (CVDs)
Dermatology Disease
Others

By Technology:

Next-Generation Sequencing (NGS)
Whole Exome Sequencing
Whole Genome Sequencing
Array Technology
PCR-based Testing
FISH
Sanger Sequencing
Karyotyping

By Specialty:

Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests

By End-Use:

Research Laboratories & CROs
Hospitals & Clinics
Diagnostic Laboratories

By Region:

North America
U.S.
Canada
Europe
UK
Germany
France
Spain
Italy
ROE
Asia Pacific
China
India
Japan
Australia
South Korea
RoAPAC
Latin America
Brazil
Mexico
RoLA
Middle East & Africa
Saudi Arabia
South Africa
RoMEA

Years considered for the study are as follows:

Historical year - 2022
Base year - 2023
Forecast period - 2024 to 2032

Key Takeaways:

Market Estimates & Forecast for 10 years from 2022 to 2032.
Annualized revenues and regional level analysis for each market segment.
Detailed analysis of geographical landscape with Country level analysis of major regions.
Competitive landscape with information on major players in the market.
Analysis of key business strategies and recommendations on future market approach.
Analysis of competitive structure of the market.
Demand side and supply side analysis of the market.

Chapter 1. Global Rare Disease Genetic Testing Market Executive Summary

1.1. Global Rare Disease Genetic Testing Market Size & Forecast (2022-2032)
1.2. Regional Summary
1.3. Segmental Summary
- 1.3.1. By Disease Type
- 1.3.2. By Technology
- 1.3.3. By Specialty
- 1.3.4. By End-Use
1.4. Key Trends
1.5. Recession Impact
1.6. Analyst Recommendation & Conclusion

Chapter 2. Global Rare Disease Genetic Testing Market Definition and Research Assumptions

2.1. Research Objective
2.2. Market Definition
2.3. Research Assumptions
- 2.3.1. Inclusion & Exclusion
- 2.3.2. Limitations
- 2.3.3. Supply Side Analysis
  - 2.3.3.1. Availability
  - 2.3.3.2. Infrastructure
  - 2.3.3.3. Regulatory Environment
  - 2.3.3.4. Market Competition
  - 2.3.3.5. Economic Viability (Consumer's Perspective)
- 2.3.4. Demand Side Analysis
  - 2.3.4.1. Regulatory frameworks
  - 2.3.4.2. Technological Advancements
  - 2.3.4.3. Environmental Considerations
  - 2.3.4.4. Consumer Awareness & Acceptance
2.4. Estimation Methodology
2.5. Years Considered for the Study
2.6. Currency Conversion Rates

Chapter 3. Global Rare Disease Genetic Testing Market Dynamics

3.1. Market Drivers
- 3.1.1. Advancements in Genetic Testing Technologies
- 3.1.2. Increased Awareness and Diagnosis of Rare Diseases
- 3.1.3. Rising Prevalence of Rare Diseases
3.2. Market Challenges
- 3.2.1. High Costs and Limited Accessibility
3.3. Market Opportunities
- 3.3.1. Personalized Medicine
- 3.3.2. Expansion in Emerging Markets

Chapter 4. Global Rare Disease Genetic Testing Market Industry Analysis

4.1. Porter's 5 Force Model
- 4.1.1. Bargaining Power of Suppliers
- 4.1.2. Bargaining Power of Buyers
- 4.1.3. Threat of New Entrants
- 4.1.4. Threat of Substitutes
- 4.1.5. Competitive Rivalry
- 4.1.6. Futuristic Approach to Porter's 5 Force Model
- 4.1.7. Porter's 5 Force Impact Analysis
4.2. PESTEL Analysis
- 4.2.1. Political
- 4.2.2. Economical
- 4.2.3. Social
- 4.2.4. Technological
- 4.2.5. Environmental
- 4.2.6. Legal
4.3. Top investment opportunity
4.4. Top winning strategies
4.5. Disruptive Trends
4.6. Industry Expert Perspective
4.7. Analyst Recommendation & Conclusion

Chapter 5. Global Rare Disease Genetic Testing Market Size & Forecasts by Disease Type 2022-2032

5.1. Segment Dashboard
5.2. Global Rare Disease Genetic Testing Market: Disease Type Revenue Trend Analysis, 2022 & 2032 (USD Million)
- 5.2.1. Neurological Disease
- 5.2.2. Immunological Disorders
- 5.2.3. Hematology Diseases
- 5.2.4. Endocrine & Metabolism Diseases
- 5.2.5. Cancer
- 5.2.6. Musculoskeletal Disorders
- 5.2.7. Cardiovascular Disorders (CVDs)
- 5.2.8. Dermatology Disease
- 5.2.9. Others

Chapter 6. Global Rare Disease Genetic Testing Market Size & Forecasts by Technology 2022-2032

6.1. Segment Dashboard
6.2. Global Rare Disease Genetic Testing Market: Technology Revenue Trend Analysis, 2022 & 2032 (USD Million)
- 6.2.1. Next-Generation Sequencing (NGS)
- 6.2.2. Whole Exome Sequencing
- 6.2.3. Whole Genome Sequencing
- 6.2.4. Array Technology
- 6.2.5. PCR-based Testing
- 6.2.6. FISH
- 6.2.7. Sanger Sequencing
- 6.2.8. Karyotyping

Chapter 7. Global Rare Disease Genetic Testing Market Size & Forecasts by Specialty 2022-2032

7.1. Segment Dashboard
7.2. Global Rare Disease Genetic Testing Market: Specialty Revenue Trend Analysis, 2022 & 2032 (USD Million)
- 7.2.1. Molecular Genetic Tests
- 7.2.2. Chromosomal Genetic Tests
- 7.2.3. Biochemical Genetic Tests

Chapter 8. Global Rare Disease Genetic Testing Market Size & Forecasts by End-Use 2022-2032

8.1. Segment Dashboard
8.2. Global Rare Disease Genetic Testing Market: End-Use Revenue Trend Analysis, 2022 & 2032 (USD Million)
- 8.2.1. Research Laboratories & CROs
- 8.2.2. Hospitals & Clinics
- 8.2.3. Diagnostic Laboratories

Chapter 9. Global Rare Disease Genetic Testing Market Size & Forecasts by Region 2022-2032

9.1. North America Rare Disease Genetic Testing Market
- 9.1.1. U.S. Rare Disease Genetic Testing Market
  - 9.1.1.1. Disease Type breakdown size & forecasts, 2022-2032
  - 9.1.1.2. Technology breakdown size & forecasts, 2022-2032
  - 9.1.1.3. Specialty breakdown size & forecasts, 2022-2032
  - 9.1.1.4. End-Use breakdown size & forecasts, 2022-2032
- 9.1.2. Canada Rare Disease Genetic Testing Market
9.2. Europe Rare Disease Genetic Testing Market
- 9.2.1. U.K. Rare Disease Genetic Testing Market
- 9.2.2. Germany Rare Disease Genetic Testing Market
- 9.2.3. France Rare Disease Genetic Testing Market
- 9.2.4. Spain Rare Disease Genetic Testing Market
- 9.2.5. Italy Rare Disease Genetic Testing Market
- 9.2.6. Rest of Europe Rare Disease Genetic Testing Market
9.3. Asia-Pacific Rare Disease Genetic Testing Market
- 9.3.1. China Rare Disease Genetic Testing Market
- 9.3.2. India Rare Disease Genetic Testing Market
- 9.3.3. Japan Rare Disease Genetic Testing Market
- 9.3.4. Australia Rare Disease Genetic Testing Market
- 9.3.5. South Korea Rare Disease Genetic Testing Market
- 9.3.6. Rest of Asia Pacific Rare Disease Genetic Testing Market
9.4. Latin America Rare Disease Genetic Testing Market
- 9.4.1. Brazil Rare Disease Genetic Testing Market
- 9.4.2. Mexico Rare Disease Genetic Testing Market
- 9.4.3. Rest of Latin America Rare Disease Genetic Testing Market
9.5. Middle East & Africa Rare Disease Genetic Testing Market
- 9.5.1. Saudi Arabia Rare Disease Genetic Testing Market
- 9.5.2. South Africa Rare Disease Genetic Testing Market
- 9.5.3. Rest of Middle East & Africa Rare Disease Genetic Testing Market

Chapter 10. Competitive Intelligence

10.1. Key Company SWOT Analysis
10.2. Top Market Strategies
10.3. Company Profiles
- 10.3.1. Quest Diagnostics Inc.
  - 10.3.1.1. Key Information
  - 10.3.1.2. Overview
  - 10.3.1.3. Financial (Subject to Data Availability)
  - 10.3.1.4. Product Summary
  - 10.3.1.5. Market Strategies
- 10.3.2. Centogene N.V.
- 10.3.3. Invitae Corp.
- 10.3.4. 3billion, Inc.
- 10.3.5. Arup Laboratories
- 10.3.6. Eurofins Scientific
- 10.3.7. Strand Life Sciences
- 10.3.8. Ambry Genetics
- 10.3.9. Perkin Elmer, Inc.
- 10.3.10. Realm IDX, Inc.
- 10.3.11. Macrogen, Inc.
- 10.3.12. Baylor Genetics
- 10.3.13. Color Genomics, Inc.
- 10.3.14. Health Network Laboratories
- 10.3.15. PreventionGenetics

Chapter 11. Research Process

11.1. Research Process
- 11.1.1. Data Mining
- 11.1.2. Analysis
- 11.1.3. Market Estimation
- 11.1.4. Validation
- 11.1.5. Publishing
11.2. Research Attributes