유전성 검사 시장 : 예측(2026-2031년)

Hereditary Testing Market is expected to rise at a 8.7% CAGR, growing from USD 3.672 billion in 2025 to USD 6.058 billion in 2031.

The hereditary testing market encompasses a sophisticated and rapidly evolving segment of molecular diagnostics focused on identifying genetic variants associated with inherited disorders, disease predisposition, and drug response. This market is central to the paradigm of precision medicine, transforming patient care from reactive treatment to proactive risk assessment and personalized management strategies.

Core Clinical Value and Application Spectrum

Hereditary testing provides critical insights by analyzing an individual's DNA to detect mutations that may be causative for genetic disorders (diagnostic testing), indicate an elevated risk for developing conditions such as hereditary cancers (predictive/predispositional testing), or inform medication selection and dosing (pharmacogenomics). Its applications span prenatal and newborn screening, oncology, cardiology, neurology, and pharmacotherapy. The fundamental value lies in enabling earlier intervention, guiding targeted surveillance, informing therapeutic choices, and facilitating cascade testing within families, thereby improving clinical outcomes and optimizing healthcare resource allocation.

Primary Market Growth Drivers

Market expansion is propelled by several powerful and synergistic trends. The rising global prevalence of cancer, particularly those with known hereditary components such as breast, ovarian, colorectal, and pancreatic cancers, is a paramount driver. Increased awareness of hereditary cancer syndromes among both clinicians and patients, fueled by public health campaigns and professional guidelines, is stimulating demand for germline testing to inform risk management, surgical decisions, and family planning.

Concurrently, the integration of pharmacogenomics (PGx) into mainstream clinical practice is creating a substantial new application segment. PGx testing is increasingly utilized to guide prescribing for a range of therapeutics, including antidepressants, antiplatelets, and chemotherapeutic agents, by predicting efficacy and adverse event risk based on an individual's genetic makeup. The publication of professional consensus guidelines and the development of standardized testing panels are lending clinical credibility and accelerating adoption across healthcare systems.

Technological advancement, particularly the widespread adoption and decreasing cost of next-generation sequencing (NGS), is the foundational enabler of market growth. NGS allows for the simultaneous analysis of multiple genes or even the entire exome/genome, replacing older, sequential single-gene tests. This technological leap has vastly increased the throughput, scope, and discovery power of hereditary testing, making comprehensive panels and broader genomic analyses more accessible and clinically feasible.

Supportive governmental and institutional initiatives are also critical catalysts. National public health programs that expand access to genetic screening-such as universal non-invasive prenatal testing (NIPT) or newborn screening expansions-directly drive test volumes. Furthermore, the development of regulatory frameworks and professional guidelines by health authorities and medical societies helps standardize testing practices, ensure quality, and bolster reimbursement pathways, thereby legitimizing and integrating genetic testing into standard care protocols.

Key Application and Technology Segments

The market is segmented by both application and technology. The oncology segment remains the largest and most dynamic, driven by the clinical utility of testing for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome, among others. The pharmacogenomics segment is experiencing rapid growth as evidence accumulates and implementation barriers are addressed.

From a technological standpoint, NGS-based multi-gene panels dominate the landscape for hereditary cancer and comprehensive disorder testing. However, targeted testing methods for specific high-penetrance variants and array-based technologies for pharmacogenomics also maintain significant roles. The continuous evolution of bioinformatics pipelines for variant interpretation is a critical, albeit less visible, component of the technological ecosystem.

Geographic Landscape and Regulatory Environment

Europe represents a leading and mature market, characterized by well-established healthcare infrastructures, a high degree of technological adoption, and proactive regulatory and professional bodies that issue testing guidelines. The presence of major diagnostic companies and a supportive environment for genetic services contribute to the region's significant market share.

Globally, the market is shaped by distinct regional regulatory frameworks governing test approval, laboratory licensing, and data privacy. These variations influence the pace of new test introductions and commercial strategies. Markets with clearer reimbursement mechanisms for genetic tests typically exhibit faster adoption and more robust competition among providers.

Competitive Landscape and Strategic Evolution

The competitive landscape is diverse, including large commercial diagnostic laboratories, specialized genetic testing companies, and in-house hospital laboratories. Strategic activities are intensely focused on research and development to expand test menus, improve variant classification, and reduce turnaround times. Key players are engaged in securing regulatory clearances for their tests, publishing clinical validity and utility data in peer-reviewed journals, and forming strategic partnerships with academic medical centers, pharmaceutical companies, and health systems to integrate testing into clinical pathways.

Future Market Trajectory

The future trajectory of the hereditary testing market points toward greater integration, automation, and data-driven insights. Testing will move further into routine primary and specialty care as clinical decision support tools become more embedded in electronic health records. The application of artificial intelligence and machine learning to improve variant interpretation and risk prediction will enhance the value of genomic data.

Market growth will be sustained by the ongoing discovery of new gene-disease associations, the expansion of polygenic risk scores for common diseases, and the continuous decrease in sequencing costs. However, success will also depend on effectively addressing challenges related to equitable access, genetic counseling workforce capacity, data privacy, and the responsible communication of complex results. As a cornerstone of modern, preventative, and personalized medicine, the hereditary testing market is poised for sustained expansion, driven by irreversible advances in genomic science and a deepening understanding of the genetic basis of health and disease.

Key Benefits of this Report:

• Insightful Analysis: Gain detailed market insights covering major as well as emerging geographical regions, focusing on customer segments, government policies and socio-economic factors, consumer preferences, industry verticals, and other sub-segments.
• Competitive Landscape: Understand the strategic maneuvers employed by key players globally to understand possible market penetration with the correct strategy.
• Market Drivers & Future Trends: Explore the dynamic factors and pivotal market trends and how they will shape future market developments.
• Actionable Recommendations: Utilize the insights to exercise strategic decisions to uncover new business streams and revenues in a dynamic environment.
• Caters to a Wide Audience: Beneficial and cost-effective for startups, research institutions, consultants, SMEs, and large enterprises.

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Industry and Market Insights, Opportunity Assessment, Product Demand Forecasting, Market Entry Strategy, Geographical Expansion, Capital Investment Decisions, Regulatory Framework & Implications, New Product Development, Competitive Intelligence

Report Coverage:

• Historical data from 2021 to 2025 & forecast data from 2025 to 2031
• Growth Opportunities, Challenges, Supply Chain Outlook, Regulatory Framework, and Trend Analysis
• Competitive Positioning, Strategies, and Market Share Analysis
• Revenue Growth and Forecast Assessment of segments and regions including countries
• Company Profiling (Strategies, Products, Financial Information, and Key Developments among others.)

Hereditary Testing Market Segmentation

• By Disease Type
• Hereditary Cancer Testing
• Hereditary Non-Cancer Testing
• By Technology
• Cytogenetic
• Biochemical
• Molecular Testing
• By End-User
• Hospitals
• Clinics
• Others
• By Geography
• North America
• USA
• Canada
• Mexico
• South America
• Brazil
• Argentina
• Others
• Europe
• Germany
• France
• United Kingdom
• Spain
• Others
• Middle East and Africa
• Saudi Arabia
• UAE
• Others
• Asia Pacific
• China
• India
• Japan
• South Korea
• Indonesia
• Thailand
• Others

TABLE OF CONTENTS

1. EXECUTIVE SUMMARY

2. MARKET SNAPSHOT

• 2.1. Market Overview
• 2.2. Market Definition
• 2.3. Scope of the Study
• 2.4. Market Segmentation

3. BUSINESS LANDSCAPE

• 3.1. Market Drivers
• 3.2. Market Restraints
• 3.3. Market Opportunities
• 3.4. Porter's Five Forces Analysis
• 3.5. Industry Value Chain Analysis
• 3.6. Policies and Regulations
• 3.7. Strategic Recommendations

4. TECHNOLOGICAL OUTLOOK

5. HEREDITARY TESTING MARKET BY DISEASE TYPE

• 5.1. Introduction
• 5.2. Hereditary Cancer Testing
• 5.3. Hereditary Non-Cancer Testing

6. HEREDITARY TESTING MARKET BY TECHNOLOGY

• 6.1. Introduction
• 6.2. Cytogenetic
• 6.3. Biochemical
• 6.4. Molecular Testing

7. HEREDITARY TESTING MARKET BY END-USER

• 7.1. Introduction
• 7.2. Hospitals
• 7.3. Clinics
• 7.4. Others

8. HEREDITARY TESTING MARKET BY GEOGRAPHY

• 8.1. Introduction
• 8.2. North America
  • 8.2.1. USA
  • 8.2.2. Canada
  • 8.2.3. Mexico
• 8.3. South America
  • 8.3.1. Brazil
  • 8.3.2. Argentina
  • 8.3.3. Others
• 8.4. Europe
  • 8.4.1. Germany
  • 8.4.2. France
  • 8.4.3. United Kingdom
  • 8.4.4. Spain
  • 8.4.5. Others
• 8.5. Middle East and Africa
  • 8.5.1. Saudi Arabia
  • 8.5.2. UAE
  • 8.5.3. Others
• 8.6. Asia Pacific
  • 8.6.1. China
  • 8.6.2. India
  • 8.6.3. Japan
  • 8.6.4. South Korea
  • 8.6.5. Indonesia
  • 8.6.6. Thailand
  • 8.6.7. Others

9. COMPETITIVE ENVIRONMENT AND ANALYSIS

• 9.1. Major Players and Strategy Analysis
• 9.2. Market Share Analysis
• 9.3. Mergers, Acquisitions, Agreements, and Collaborations
• 9.4. Competitive Dashboard

10. COMPANY PROFILES

• 10.1. MedGenome
• 10.2. Myriad Genome
• 10.3. Mapmygenome
• 10.4. Invitae
• 10.5. Ambry Genetics
• 10.6. 23andMe
• 10.7. ARUP Laboratories
• 10.8. GeneDx
• 10.9. Criver
• 10.10. Medline Plus
• 10.11. Mayo Clinic

11. APPENDIX

• 11.1. Currency
• 11.2. Assumptions
• 11.3. Base and Forecast Years Timeline
• 11.4. Key Benefits for the Stakeholders
• 11.5. Research Methodology
• 11.6. Abbreviations