유전자 검사 산업 : 예측(2025-2030년)

Population Screening Initiatives, Reproductive Health Demand, and Clinical Risk Stratification are Accelerating Growth in Genetic Testing, Enabled by Advancements in Sequencing Technologies and Data-Driven Interpretation

This research service offers a comprehensive analysis of the global genetic testing industry (specifically, germline genetic testing, which analyzes inherited genetic variations present in an individual from birth and can be passed to offspring). The industry growth is driven by a shift towards preventive care, rising maternal ages, increasing government support for early screening, declining sequencing costs, expanding payer coverage, emerging pharmacogenomics, accelerating technology adoption, and increasing clinical integration.

It categorizes the market by application, which includes prenatal screening, newborn screening, predictive or presymptomatic testing, and Other segments (preimplantation genetic testing in IVF, forensic and identity testing, and diagnostic gene panels for complex syndromes such as epilepsy and autism). It also provides a 6-year revenue forecast and an analysis of key industry participants. Regional analyses are provided for North America, Europe, Asia-Pacific, the Middle East & Africa, and Latin America.

The report offers global perspectives on the deployment of genetic testing across multiple settings, including hospital-based laboratories (public/private hospitals, maternity clinics, OB/GYN practices), diagnostic labs (reference labs and central labs), specialty clinics (clinics focused on specific medical areas, such as neurology, cardiology, endocrinology, rare diseases), and others (consisting of IVF and fertility centers, research and academic institutes, direct-to-consumer (DTC), government and public health bodies, contract research organizations (CROs), and forensic and legal agencies involved in genomic data analytics). AI-based interpretation also plays an increasingly significant role in this ecosystem.

The study is catered from the vendor side, in which the landscape comprises companies that develop and supply DNA sequencing platforms, consumables, assay kits, reagents, software tools, and bioinformatics solutions used in the detection and interpretation of genetic variants and contribute to market revenue.

The report discusses prevalent and emerging business models, analyzes trends in market access and reimbursement for genetic testing, and offers competitive assessments and revenue-share analyses. It examines market drivers and restraints, offering insights into development trends, partnerships, and the investment landscape. The report highlights companies developing disruptive NGS and CRISPR technology.

Based on technological advancements, business models, and competitive dynamics, the report identifies growth opportunities in this space for market players and other stakeholders. The base year is 2024, and the forecast period is 2025 to 2030.

Report Summary: Global Genetic Testing Market

The global genetic testing market is undergoing a major transformation as precision medicine, reproductive health, and digital genomics converge into mainstream healthcare. Valued at USD 14.33 billion in 2024, the market is projected to reach USD 25.09 billion by 2030, growing at a CAGR of 9.8%. Expansion is driven by technological advances in next-generation sequencing (NGS), the rapid evolution of the DNA genetic testing market, and the increasing adoption of non-invasive prenatal genetic testing (NIPT).

North America leads global adoption with nearly 49% share, supported by integrated payer coverage and digital health infrastructure. Europe continues steady expansion under national genomic initiatives, while Asia-Pacific is the fastest-growing region (CAGR 13.1%) driven by national population genomics programs and the growing prenatal genetic testing market in China, Japan, and India.

Key Market Insights:

• Prenatal and reproductive testing represent nearly 35% of total market revenue.
• The DNA genetic testing market is expanding beyond diagnostics into wellness and preventive screening.
• Top five companies-Illumina, Thermo Fisher, Natera, Roche, and Myriad Genetics-account for over 53% of total revenue.
• Integration of AI-based variant interpretation and cloud-based genomic data analytics is reducing turnaround times and improving clinical accuracy.

As personalized medicine and digital diagnostics converge, the genetic testing market is transitioning from reactive diagnosis to proactive, data-driven healthcare. The future lies in accessible, high-throughput, and AI-powered testing that brings genomic insights to every stage of patient care.

Market Overview: Global Genetic Testing Market

The genetic testing market is evolving from a specialized medical service into a fundamental pillar of personalized and preventive medicine. Growing clinical acceptance, cost-effective sequencing, and improved test accuracy are reshaping how healthcare systems integrate genetic insights into everyday medical decisions.

Rapid technological advancements-particularly in DNA sequencing, AI-based data interpretation, and cloud genomics-are redefining the DNA genetic testing market landscape. The demand surge is especially strong in reproductive and prenatal applications, where non-invasive prenatal genetic testing (NIPT) has revolutionized early detection for chromosomal abnormalities such as Down syndrome, Edwards syndrome, and Patau syndrome.

Market Dynamics:

• Precision Medicine Expansion: The integration of genetic testing into oncology, cardiology, and pharmacogenomics enables personalized therapeutic strategies.
• Growing Prenatal Adoption: The prenatal genetic testing market continues to expand due to rising maternal age, improved accuracy of NIPT, and the availability of carrier screening programs.
• Digital Health Integration: Tele-genetics and remote counseling platforms are extending access to genetic testing across geographies.
• AI and Automation: Machine learning tools enhance variant classification, reducing the uncertainty rate in test results.
• Reimbursement and Policy Evolution: Broader insurance coverage, particularly in the U.S., Japan, and select EU countries, is accelerating patient adoption.

Regional Overview:

• North America: Accounts for the largest market share (49%), supported by payer alignment and clinical genomics networks.
• Europe: Strong growth in Germany, the U.K., and France through public genomic health initiatives.
• Asia-Pacific: Fastest-growing region with national genomics programs and a booming non-invasive prenatal genetic testing market.
• Latin America and Middle East: Early-stage adoption with increasing private lab participation.

Overall, the global genetic testing market is transitioning toward a digital-first, patient-centric model, integrating AI-driven analytics, telehealth, and automation to enhance diagnostic precision and accessibility.

Scope of Analysis: Global Genetic Testing Market

This study provides an analytical and data-backed overview of the global genetic testing market covering the forecast period 2025-2030, with 2024 as the base year. The analysis focuses on germline testing applications, particularly within the prenatal genetic testing market, predictive/presymptomatic testing, and newborn screening.

Geographic Scope: North America, Europe, Asia-Pacific, Latin America, and the Middle East & Africa.

Technology Coverage: Next-generation sequencing (NGS), PCR-based testing, microarrays, and AI-enabled variant interpretation tools.

End-User Segments: Hospitals, diagnostic laboratories, fertility clinics, and tele-genetics platforms.

The study excludes somatic (tumor) testing and microbiome analysis to maintain focus on germline and hereditary testing. Data integration combines primary research (interviews with laboratory directors, genetic counselors, and healthcare providers) with secondary sources, including regulatory filings, clinical databases, and genomic consortium reports.

This report also benchmarks emerging innovations in DNA genetic testing market technologies, evaluating market maturity, adoption rates, and cross-sector integration.

Revenue Forecast: Global Genetic Testing Market

The global genetic testing market is forecast to grow from USD 14.33 billion in 2024 to USD 25.09 billion by 2030, at a CAGR of 9.8%.

By Region:

• North America: Retains leadership with 49% share.
• Asia-Pacific: Fastest CAGR (13.1%) due to public health genomics initiatives.
• Europe: Stable expansion through national genomics programs.

High-growth areas include the non-invasive prenatal genetic testing market, where AI-based bioinformatics platforms enhance fetal DNA screening accuracy, and the expanding DNA genetic testing market for predictive and wellness purposes.

Segmentation Analysis: Global Genetic Testing Market

By Test Type:

• Prenatal Testing: Largest segment, representing ~35% of revenue, led by widespread adoption of non-invasive prenatal genetic testing (NIPT) and carrier screening programs.
• Predictive and Presymptomatic Testing: Fastest-growing segment (CAGR 12.9%) as preventive healthcare becomes mainstream.
• Newborn Screening: Expanding in public health systems for early genetic disease detection.
• Other Tests (PGT, Forensic, Rare Disease, Ancestry): Growing adoption through affordable consumer-based DNA test kits.

By Technology:

• Next-Generation Sequencing (NGS): Dominant technology, used in ~65% of all tests globally.
• PCR and Microarray Testing: Preferred for rapid and low-cost screening.
• AI-Based Cloud Platforms: Accelerating variant interpretation and patient data analytics.

By End User:

• Hospitals & Diagnostic Labs: Account for over 60% of total revenue.
• Fertility Clinics: Strong uptake of prenatal and preimplantation genetic testing (PGT).
• Tele-genetics & DTC Providers: Expanding rapidly in hybrid clinical-consumer models.

By Region:

• North America: 47.5% market share (2024).
• Europe: 25.3%.
• Asia-Pacific: 19.1%.

This segmentation underscores the growing synergy between clinical precision medicine and consumer wellness applications across the broader DNA genetic testing market.

Growth Drivers: Global Genetic Testing Market

• Rising Demand for Non-Invasive Testing: Strong expansion of the non-invasive prenatal genetic testing market driven by maternal health awareness and test accuracy improvements.
• AI-Enhanced Genetic Interpretation: Machine learning reduces interpretation time and enhances accuracy across the DNA genetic testing market.
• Precision Medicine Expansion: Integration into oncology, cardiology, and pharmacogenomics workflows.
• Digital Accessibility: Tele-genetics and mobile health platforms extend reach across emerging markets.
• Government Genomics Initiatives: Large-scale national sequencing projects enabling clinical adoption.
• Employer and Insurance Participation: Preventive genomics embedded in corporate wellness and reimbursement plans.

These factors are transforming the genetic testing market from a specialized service into a mainstream component of preventive healthcare and clinical diagnostics.

Growth Restraints: Global Genetic Testing Market

• Regulatory Fragmentation: Lack of uniform standards across regions hampers market scalability.
• Reimbursement Limitations: Many tests in the prenatal genetic testing market and predictive testing categories lack comprehensive payer coverage.
• High Out-of-Pocket Costs: Particularly in emerging economies where self-pay models dominate.
• Data Privacy and Genetic Ethics: Rising concerns over personal DNA data storage and cross-border data use.
• Limited Genetic Counseling Capacity: Insufficient trained professionals to meet rising demand.
• Ethnic Representation Bias: Underrepresentation of diverse populations reduces test accuracy.

Addressing these barriers through unified regulations, cost reductions, and better data inclusivity will be key to the sustainable expansion of the global genetic testing market.

Competitive Landscape: Global Genetic Testing Market

The genetic testing market is moderately consolidated, with innovation focused on AI, automation, and digital engagement.

Major Players:

• Illumina, Inc. - Market leader in sequencing platforms and bioinformatics.
• Thermo Fisher Scientific - Offers integrated genomics and automation systems.
• Natera, Inc. - Key player in the non-invasive prenatal genetic testing market and oncology.
• Roche Diagnostics - Expanding genetic analysis within clinical workflows.
• Myriad Genetics - Focused on hereditary cancer and pharmacogenomics testing.
• Agilent Technologies, Danaher, Siemens Healthineers, PerkinElmer - Strong infrastructure providers.
• Emerging Innovators: 23andMe, Color Health, GeneDx, MedGenome, and Prenetics are disrupting the DNA genetic testing market with hybrid clinical-consumer offerings.

Key Strategies:

• AI-Driven Variant Analysis: Automation reducing human review times.
• Strategic Partnerships: Regeneron-23andMe for population genomics; Tempus-Ambry for precision oncology.
• M&A Activity: Consolidation aimed at portfolio expansion and data integration.
• Digital Transformation: Telehealth-linked genetic testing improving accessibility and user engagement.
• Population-Scale Programs: Collaborations between governments and private genomics firms for public health screening.

As genetic testing becomes integral to clinical and consumer ecosystems, competitive differentiation will rely on data-driven insight delivery, AI-enhanced clinical accuracy, and affordable, accessible testing solutions-particularly in high-demand segments like the prenatal genetic testing market and DNA genetic testing market.

Table of Contents

Research Scope

• Scope of Analysis
• Segmentation
• Segmentation Qualitative Coverage
• Segmentation

Growth Environment: Transformation in Global Genetic Testing Industry

• Why is it Increasingly Difficult to Grow?
• The Strategic Imperative 8
• The Impact of the Top 3 Strategic Imperatives on the Global Genetic Testing Industry

Ecosystem in Global Genetic Testing Industry

• Competitive Environment
• Key Competitors by Application

Growth Generator in Global Genetic Testing Industry

• Growth Metrics
• Growth Drivers
• Growth Restraints
• Forecast Considerations
• Revenue Forecast
• Revenue Forecast Analysis
• Revenue Forecast by Application
• Revenue Forecast Analysis by Application
• Revenue Forecast by End User
• Revenue Forecast Analysis by End User
• Revenue Forecast by Region
• Revenue Forecast Analysis by Region
• Global Genetic Testing Market Analysis by Technology
• US Pricing Trends and Forecast Analysis
• US Pricing Trends and Forecast Analysis by Application
• US Pricing Trends and Forecast Analysis
• Regulatory and Reimbursement Landscape

Revenue Share

• Revenue Share Analysis-Competitor
• Competitive Landscape, Top Players Offering Parameters
• Notable Activities

Growth Generator Prenatal Testing

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Newborn Screening

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Predictive and Presymptomatic Testing

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Other Applications

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator North America

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Europe

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Asia-Pacific

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator Latin America

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Generator MEA

• Growth Metrics
• Revenue Forecast
• Revenue Forecast Analysis

Growth Opportunity Universe in Global Genetic Testing Industry

• Growth Opportunity 1: Predictive and Presymptomatic Germline Genetic Testing Gaining Traction in Personalized Medicine
• Growth Opportunity 2: Expansion of Non-Invasive Prenatal Testing NIPT and Carrier and Newborn Screening Programs in Emerging Markets
• Growth Opportunity 3: NGS Acts as a Growth Engine for Rare Disease Diagnosis, Oncology Panels, and Pharmacogenomics
• Growth Opportunity 4: Expansion of DTC Beyond Ancestry to Expanding to Pharmacogenomics, Disease Risk, and Carrier Screening

Appendix & Next Steps

• Benefits and Impacts of Growth Opportunities
• Next Steps
• List of Exhibits
• Legal Disclaimer