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Global genetic testing market report size, share, growth drivers, trends, opportunities & forecast 2025–2030

Global Genetic Testing Market, valued at USD 14 Bn, is driven by oncology, prenatal testing, and tech innovations, with rapid growth in Asia Pacific.

Region:Global

Author(s):Dev

Product Code:KRAA8367

Pages:98

Published On:November 2025

About the Report

Base Year 2024

Global Genetic Testing Market Overview

  • The Global Genetic Testing Market is valued at USD 14 billion, based on a five-year historical analysis. This growth is primarily driven by advancements in next-generation sequencing (NGS), expanded applications in oncology, prenatal, and rare disease diagnostics, and rising consumer awareness regarding personalized medicine. The market has seen a surge in demand for genetic testing services, particularly in oncology and prenatal testing, as healthcare providers and patients seek more precise diagnostic tools. Increased adoption of direct-to-consumer genetic tests and integration of genomics into routine clinical care are also accelerating market expansion.
  • Key players in this market include the United States, Germany, and China, which dominate due to their robust healthcare infrastructure, significant investments in research and development, and a high prevalence of genetic disorders. The U.S. leads in innovation and technology adoption, while Germany and China benefit from strong governmental support, expanding genomics research, and a growing population interested in genetic testing services. Asia Pacific is experiencing the fastest growth, fueled by government initiatives, increased healthcare access, and rising demand for personalized medicine.
  • The Genetic Information Nondiscrimination Act (GINA), issued by the United States Congress in 2008, prohibits discrimination based on genetic information in health insurance and employment. GINA remains the principal binding regulation, encouraging individuals to undergo genetic testing without fear of repercussions and supporting market growth. The Act is enforced by the Equal Employment Opportunity Commission (EEOC) and the Department of Labor, requiring compliance from employers and health insurers.
Global Genetic Testing Market Size

Global Genetic Testing Market Segmentation

By Type:The market is segmented into various types of genetic testing, including diagnostic testing, predictive & presymptomatic testing, carrier testing, prenatal & newborn testing, pharmacogenomic testing, and others. Diagnostic testing remains the largest segment, driven by its critical role in identifying inherited disorders and guiding treatment decisions. Predictive & presymptomatic testing is expanding as consumers seek proactive health management, while carrier and prenatal testing are increasingly adopted for family planning and early intervention. Pharmacogenomic testing is gaining traction in personalized medicine, optimizing drug therapies based on genetic profiles.

Global Genetic Testing Market segmentation by Type.

By End-User:The market is further segmented by end-users, which include hospitals & clinics, diagnostic laboratories, academic & research institutes, direct-to-consumer, and others. Hospitals & clinics represent the largest end-user segment, reflecting the integration of genetic testing into mainstream clinical workflows. Diagnostic laboratories play a central role in processing and analyzing genetic samples. Academic & research institutes drive innovation and validation of new testing methodologies. The direct-to-consumer segment is expanding rapidly, supported by increasing consumer interest in ancestry, wellness, and health risk assessments.

Global Genetic Testing Market segmentation by End-User.

Global Genetic Testing Market Competitive Landscape

The Global Genetic Testing Market is characterized by a dynamic mix of regional and international players. Leading participants such as Illumina, Inc., Thermo Fisher Scientific Inc., Myriad Genetics, Inc., Quest Diagnostics Incorporated, Genomic Health, Inc. (Exact Sciences Corporation), 23andMe Holding Co., Ambry Genetics Corporation, Fulgent Genetics, Inc., Color Health, Inc., Laboratory Corporation of America Holdings (LabCorp), Eurofins Scientific SE, BGI Genomics Co., Ltd., PerkinElmer, Inc. (now Revvity, Inc.), Agilent Technologies, Inc., Roche Diagnostics (F. Hoffmann-La Roche Ltd.) contribute to innovation, geographic expansion, and service delivery in this space.

Illumina, Inc.

1998

San Diego, California, USA

Thermo Fisher Scientific Inc.

2006

Waltham, Massachusetts, USA

Myriad Genetics, Inc.

1991

Salt Lake City, Utah, USA

Quest Diagnostics Incorporated

1967

Secaucus, New Jersey, USA

Genomic Health, Inc. (Exact Sciences Corporation)

2000

Redwood City, California, USA

Company

Establishment Year

Headquarters

Company Size (Large, Medium, Small)

Revenue (USD Millions/Billions)

Revenue Growth Rate (%)

Market Share (%)

Geographic Presence (Regions/Countries)

Product Portfolio Breadth

Global Genetic Testing Market Industry Analysis

Growth Drivers

  • Increasing Prevalence of Genetic Disorders:The global incidence of genetic disorders is rising, with approximately 1 in 33 babies born with a genetic condition, according to the CDC. In future, the World Health Organization estimates that around 300 million people worldwide will be affected by genetic disorders. This growing prevalence drives demand for genetic testing, as early diagnosis can significantly improve treatment outcomes and reduce healthcare costs associated with late-stage interventions.
  • Advancements in Genomic Technologies:The genetic testing landscape is rapidly evolving due to technological advancements. In future, the cost of whole-genome sequencing is projected to drop to around $1,000, making it accessible to a broader population. Innovations in next-generation sequencing (NGS) and bioinformatics are enhancing the accuracy and speed of genetic tests, thereby increasing their adoption in clinical settings and personal health management, which is crucial for the market's growth.
  • Rising Demand for Personalized Medicine:The personalized medicine market is expected to reach $2.5 trillion in future, reflecting a significant shift towards tailored healthcare solutions. Genetic testing plays a pivotal role in this trend, enabling healthcare providers to customize treatments based on individual genetic profiles. This demand is further fueled by the increasing recognition of the benefits of personalized therapies in improving patient outcomes and reducing adverse drug reactions, thereby driving the genetic testing market.

Market Challenges

  • High Costs Associated with Genetic Testing:Despite technological advancements, the high costs of genetic testing remain a significant barrier. In future, the average cost of comprehensive genetic testing can range from $500 to $3,000, depending on the complexity of the tests. This financial burden limits access for many patients, particularly in low-income regions, hindering the overall growth of the genetic testing market and creating disparities in healthcare access.
  • Ethical and Privacy Concerns:Ethical issues surrounding genetic testing, including data privacy and potential discrimination, pose significant challenges. In future, approximately 60% of individuals express concerns about how their genetic data may be used, according to a survey by the National Human Genome Research Institute. These concerns can deter individuals from undergoing testing, impacting market growth and necessitating robust regulatory frameworks to protect consumer rights and data security.

Global Genetic Testing Market Future Outlook

The future of the genetic testing market appears promising, driven by technological advancements and increasing consumer awareness. As genomic technologies continue to evolve, the integration of artificial intelligence in genetic analysis is expected to enhance diagnostic accuracy and efficiency. Additionally, the expansion of direct-to-consumer genetic testing will empower individuals to take charge of their health, further propelling market growth. Collaborative efforts between genetic testing companies and healthcare providers will also play a crucial role in shaping the future landscape of this industry.

Market Opportunities

  • Expansion of Direct-to-Consumer Genetic Testing:The direct-to-consumer genetic testing market is projected to grow significantly, with an estimated 20 million tests sold in future. This trend allows consumers to access genetic information without the need for healthcare provider involvement, increasing market penetration and awareness of genetic testing benefits.
  • Integration of AI in Genetic Analysis:The application of artificial intelligence in genetic testing is expected to revolutionize the industry. By future, AI-driven tools are anticipated to improve the accuracy of genetic variant interpretation, reducing analysis time by up to 50%. This technological integration will enhance the efficiency of genetic testing services, creating new opportunities for market growth.

Scope of the Report

SegmentSub-Segments
By Type

Diagnostic Testing

Predictive & Presymptomatic Testing

Carrier Testing

Prenatal & Newborn Testing

Pharmacogenomic Testing

Others

By End-User

Hospitals & Clinics

Diagnostic Laboratories

Academic & Research Institutes

Direct-to-Consumer

Others

By Application

Oncology

Neurology

Cardiology

Rare Diseases

Reproductive Health

Infectious Diseases

Others

By Technology

Next-Generation Sequencing (NGS)

Polymerase Chain Reaction (PCR)

Microarray

Sanger Sequencing

Cytogenetic Testing

Biochemical Testing

Others

By Sample Type

Blood Samples

Saliva Samples

Tissue Samples

Others

By Region

North America (U.S., Canada)

Europe (Germany, UK, France, Italy, Spain, Rest of Europe)

Asia-Pacific (China, Japan, India, South Korea, Australia, Rest of APAC)

Latin America (Brazil, Mexico, Rest of Latin America)

Middle East & Africa (South Africa, Saudi Arabia, UAE, Rest of MEA)

By Policy Support

Government Grants

Tax Incentives

Research Funding

Others

Key Target Audience

Investors and Venture Capitalist Firms

Government and Regulatory Bodies (e.g., Food and Drug Administration, Centers for Disease Control and Prevention)

Manufacturers and Producers

Distributors and Retailers

Healthcare Providers and Laboratories

Biotechnology and Pharmaceutical Companies

Health Insurance Companies

Industry Associations and Advocacy Groups

Players Mentioned in the Report:

Illumina, Inc.

Thermo Fisher Scientific Inc.

Myriad Genetics, Inc.

Quest Diagnostics Incorporated

Genomic Health, Inc. (Exact Sciences Corporation)

23andMe Holding Co.

Ambry Genetics Corporation

Fulgent Genetics, Inc.

Color Health, Inc.

Laboratory Corporation of America Holdings (LabCorp)

Eurofins Scientific SE

BGI Genomics Co., Ltd.

PerkinElmer, Inc. (now Revvity, Inc.)

Agilent Technologies, Inc.

Roche Diagnostics (F. Hoffmann-La Roche Ltd.)

Table of Contents

Market Assessment Phase

1. Executive Summary and Approach


2. Global Genetic Testing Market Overview

2.1 Key Insights and Strategic Recommendations

2.2 Global Genetic Testing Market Overview

2.3 Definition and Scope

2.4 Evolution of Market Ecosystem

2.5 Timeline of Key Regulatory Milestones

2.6 Value Chain & Stakeholder Mapping

2.7 Business Cycle Analysis

2.8 Policy & Incentive Landscape


3. Global Genetic Testing Market Analysis

3.1 Growth Drivers

3.1.1 Increasing prevalence of genetic disorders
3.1.2 Advancements in genomic technologies
3.1.3 Rising demand for personalized medicine
3.1.4 Growing awareness and acceptance of genetic testing

3.2 Market Challenges

3.2.1 High costs associated with genetic testing
3.2.2 Ethical and privacy concerns
3.2.3 Limited reimbursement policies
3.2.4 Variability in regulatory frameworks

3.3 Market Opportunities

3.3.1 Expansion of direct-to-consumer genetic testing
3.3.2 Integration of AI in genetic analysis
3.3.3 Collaborations with healthcare providers
3.3.4 Development of new biomarkers

3.4 Market Trends

3.4.1 Increasing use of genetic testing in oncology
3.4.2 Growth of pharmacogenomics
3.4.3 Rise in consumer-driven health initiatives
3.4.4 Advancements in CRISPR technology

3.5 Government Regulation

3.5.1 FDA guidelines on genetic testing
3.5.2 HIPAA regulations on genetic data privacy
3.5.3 CLIA certification requirements
3.5.4 Genetic Information Nondiscrimination Act (GINA)

4. SWOT Analysis


5. Stakeholder Analysis


6. Porter's Five Forces Analysis


7. Global Genetic Testing Market Market Size, 2019-2024

7.1 By Value

7.2 By Volume

7.3 By Average Selling Price


8. Global Genetic Testing Market Segmentation

8.1 By Type

8.1.1 Diagnostic Testing
8.1.2 Predictive & Presymptomatic Testing
8.1.3 Carrier Testing
8.1.4 Prenatal & Newborn Testing
8.1.5 Pharmacogenomic Testing
8.1.6 Others

8.2 By End-User

8.2.1 Hospitals & Clinics
8.2.2 Diagnostic Laboratories
8.2.3 Academic & Research Institutes
8.2.4 Direct-to-Consumer
8.2.5 Others

8.3 By Application

8.3.1 Oncology
8.3.2 Neurology
8.3.3 Cardiology
8.3.4 Rare Diseases
8.3.5 Reproductive Health
8.3.6 Infectious Diseases
8.3.7 Others

8.4 By Technology

8.4.1 Next-Generation Sequencing (NGS)
8.4.2 Polymerase Chain Reaction (PCR)
8.4.3 Microarray
8.4.4 Sanger Sequencing
8.4.5 Cytogenetic Testing
8.4.6 Biochemical Testing
8.4.7 Others

8.5 By Sample Type

8.5.1 Blood Samples
8.5.2 Saliva Samples
8.5.3 Tissue Samples
8.5.4 Others

8.6 By Region

8.6.1 North America (U.S., Canada)
8.6.2 Europe (Germany, UK, France, Italy, Spain, Rest of Europe)
8.6.3 Asia-Pacific (China, Japan, India, South Korea, Australia, Rest of APAC)
8.6.4 Latin America (Brazil, Mexico, Rest of Latin America)
8.6.5 Middle East & Africa (South Africa, Saudi Arabia, UAE, Rest of MEA)

8.7 By Policy Support

8.7.1 Government Grants
8.7.2 Tax Incentives
8.7.3 Research Funding
8.7.4 Others

9. Global Genetic Testing Market Competitive Analysis

9.1 Market Share of Key Players

9.2 Cross Comparison of Key Players

9.2.1 Company Name
9.2.2 Company Size (Large, Medium, Small)
9.2.3 Revenue (USD Millions/Billions)
9.2.4 Revenue Growth Rate (%)
9.2.5 Market Share (%)
9.2.6 Geographic Presence (Regions/Countries)
9.2.7 Product Portfolio Breadth
9.2.8 R&D Investment as % of Revenue
9.2.9 Number of Genetic Tests Offered
9.2.10 Regulatory Approvals (e.g., FDA, CE)
9.2.11 Strategic Partnerships & Collaborations
9.2.12 Direct-to-Consumer Capabilities
9.2.13 Customer Segments Served
9.2.14 Digital Health Integration
9.2.15 Patent Portfolio Size

9.3 SWOT Analysis of Top Players

9.4 Pricing Analysis

9.5 Detailed Profile of Major Companies

9.5.1 Illumina, Inc.
9.5.2 Thermo Fisher Scientific Inc.
9.5.3 Myriad Genetics, Inc.
9.5.4 Quest Diagnostics Incorporated
9.5.5 Genomic Health, Inc. (Exact Sciences Corporation)
9.5.6 23andMe Holding Co.
9.5.7 Ambry Genetics Corporation
9.5.8 Fulgent Genetics, Inc.
9.5.9 Color Health, Inc.
9.5.10 Laboratory Corporation of America Holdings (LabCorp)
9.5.11 Eurofins Scientific SE
9.5.12 BGI Genomics Co., Ltd.
9.5.13 PerkinElmer, Inc. (now Revvity, Inc.)
9.5.14 Agilent Technologies, Inc.
9.5.15 Roche Diagnostics (F. Hoffmann-La Roche Ltd.)

10. Global Genetic Testing Market End-User Analysis

10.1 Procurement Behavior of Key Ministries

10.1.1 Government health departments
10.1.2 Research funding agencies
10.1.3 Public health organizations
10.1.4 Others

10.2 Corporate Spend on Infrastructure & Energy

10.2.1 Investment in genetic research facilities
10.2.2 Funding for genetic testing programs
10.2.3 Partnerships with biotech firms
10.2.4 Others

10.3 Pain Point Analysis by End-User Category

10.3.1 Access to affordable testing
10.3.2 Understanding genetic results
10.3.3 Integration into clinical workflows
10.3.4 Others

10.4 User Readiness for Adoption

10.4.1 Awareness of genetic testing benefits
10.4.2 Availability of testing options
10.4.3 Support from healthcare providers
10.4.4 Others

10.5 Post-Deployment ROI and Use Case Expansion

10.5.1 Cost savings from early diagnosis
10.5.2 Improved patient outcomes
10.5.3 Expansion into new therapeutic areas
10.5.4 Others

11. Global Genetic Testing Market Future Size, 2025-2030

11.1 By Value

11.2 By Volume

11.3 By Average Selling Price


Go-To-Market Strategy Phase

1. Whitespace Analysis + Business Model Canvas

1.1 Market gaps identification

1.2 Value proposition development

1.3 Revenue model exploration

1.4 Customer segmentation analysis

1.5 Competitive landscape assessment

1.6 Key partnerships identification

1.7 Business model validation


2. Marketing and Positioning Recommendations

2.1 Branding strategies

2.2 Product USPs

2.3 Target audience identification

2.4 Communication strategy

2.5 Digital marketing tactics

2.6 Customer engagement initiatives

2.7 Performance metrics


3. Distribution Plan

3.1 Urban retail strategies

3.2 Rural NGO tie-ups

3.3 Online distribution channels

3.4 Partnerships with healthcare providers

3.5 Logistics and supply chain management

3.6 Distribution network optimization

3.7 Performance tracking


4. Channel & Pricing Gaps

4.1 Underserved routes

4.2 Pricing bands analysis

4.3 Competitor pricing strategies

4.4 Customer willingness to pay

4.5 Value-based pricing models

4.6 Pricing adjustments for market entry

4.7 Pricing strategy evaluation


5. Unmet Demand & Latent Needs

5.1 Category gaps identification

5.2 Consumer segments analysis

5.3 Product development opportunities

5.4 Market entry strategies

5.5 Customer feedback incorporation

5.6 Future trends forecasting

5.7 Demand generation tactics


6. Customer Relationship

6.1 Loyalty programs

6.2 After-sales service

6.3 Customer feedback mechanisms

6.4 Relationship management strategies

6.5 Community engagement initiatives

6.6 Customer education programs

6.7 Performance measurement


7. Value Proposition

7.1 Sustainability initiatives

7.2 Integrated supply chains

7.3 Unique selling points

7.4 Customer-centric approach

7.5 Competitive advantages

7.6 Value delivery mechanisms

7.7 Market differentiation strategies


8. Key Activities

8.1 Regulatory compliance

8.2 Branding efforts

8.3 Distribution setup

8.4 Marketing campaigns

8.5 Partnership development

8.6 Performance tracking

8.7 Continuous improvement initiatives


9. Entry Strategy Evaluation

9.1 Domestic Market Entry Strategy

9.1.1 Product mix considerations
9.1.2 Pricing band analysis
9.1.3 Packaging strategies

9.2 Export Entry Strategy

9.2.1 Target countries selection
9.2.2 Compliance roadmap development

10. Entry Mode Assessment

10.1 Joint Ventures

10.2 Greenfield Investments

10.3 Mergers & Acquisitions

10.4 Distributor Model

10.5 Risk assessment

10.6 Strategic fit evaluation

10.7 Long-term sustainability considerations


11. Capital and Timeline Estimation

11.1 Capital requirements

11.2 Timelines for market entry

11.3 Budget allocation

11.4 Financial projections

11.5 Funding sources identification

11.6 Risk management strategies

11.7 Performance metrics


12. Control vs Risk Trade-Off

12.1 Ownership considerations

12.2 Partnership dynamics

12.3 Risk mitigation strategies

12.4 Control mechanisms

12.5 Long-term implications

12.6 Strategic alignment

12.7 Performance evaluation


13. Profitability Outlook

13.1 Breakeven analysis

13.2 Long-term sustainability

13.3 Profit margin assessment

13.4 Revenue growth projections

13.5 Cost management strategies

13.6 Financial health indicators

13.7 Performance tracking


14. Potential Partner List

14.1 Distributors

14.2 Joint Ventures

14.3 Acquisition targets

14.4 Strategic alliances

14.5 Collaboration opportunities

14.6 Partnership evaluation criteria

14.7 Performance metrics


15. Execution Roadmap

15.1 Phased Plan for Market Entr


Research Methodology

ApproachModellingSample

Phase 1: Approach1

Desk Research

  • Analysis of industry reports from genetic testing associations and health organizations
  • Review of published market studies and white papers on genetic testing trends
  • Examination of regulatory frameworks and guidelines from health authorities globally

Primary Research

  • Interviews with genetic testing laboratory directors and clinical geneticists
  • Surveys with healthcare providers and genetic counselors regarding testing adoption
  • Focus groups with patients to understand perceptions and barriers to genetic testing

Validation & Triangulation

  • Cross-validation of findings through multiple data sources including academic journals
  • Triangulation of market data with insights from industry experts and stakeholders
  • Sanity checks through peer reviews and expert panel discussions

Phase 2: Market Size Estimation1

Top-down Assessment

  • Estimation of market size based on global healthcare expenditure on genetic testing
  • Segmentation by application areas such as oncology, prenatal testing, and rare diseases
  • Incorporation of growth rates from emerging markets and technological advancements

Bottom-up Modeling

  • Collection of data on the number of tests conducted by leading genetic testing companies
  • Estimation of average pricing for various genetic tests across different regions
  • Volume x price calculations to derive revenue estimates for each segment

Forecasting & Scenario Analysis

  • Multi-factor regression analysis incorporating factors like population genetics and disease prevalence
  • Scenario modeling based on advancements in technology and changes in healthcare policies
  • Development of baseline, optimistic, and pessimistic forecasts through 2030

Phase 3: CATI Sample Composition1

Scope Item/SegmentSample SizeTarget Respondent Profiles
Oncology Genetic Testing60Oncologists, Pathologists
Prenatal Genetic Testing50Obstetricians, Genetic Counselors
Rare Disease Testing40Pediatricians, Geneticists
Direct-to-Consumer Genetic Testing45Marketing Managers, Product Development Leads
Pharmacogenomics Testing42Clinical Pharmacists, Healthcare Administrators

Frequently Asked Questions

What is the current value of the Global Genetic Testing Market?

The Global Genetic Testing Market is valued at approximately USD 14 billion, driven by advancements in next-generation sequencing, increased applications in oncology and prenatal diagnostics, and rising consumer awareness regarding personalized medicine.

What are the main drivers of growth in the Genetic Testing Market?

Which regions are leading in the Genetic Testing Market?

What types of genetic testing are available in the market?

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