Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Technology (Next Generation Sequencing, Array Technology and PCR-based Testing), By Application (Ancestry & Ethnicity, Traits Screening, Genetic Disease Carrier Status, New Baby Screening, Health & Wellness-Predisposition/Risk/Tendency), By Product (Consumables, Equipment, and Software & Services), By Channel (Online, Offline), By End User (Hospitals & Clinics, Diagnostic Laboratories, and Others), By Region and Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 9.31 Billion
CAGR (2026-2031)	12.21%
Fastest Growing Segment	Next Generation Sequencing
Largest Market	North America
Market Size (2031)	USD 18.58 Billion

Market Overview

The Global Genetic Testing Market will grow from USD 9.31 Billion in 2025 to USD 18.58 Billion by 2031 at a 12.21% CAGR. Genetic testing constitutes the laboratory analysis of human DNA, RNA, chromosomes, proteins, or metabolites to identify genotypes, mutations, or phenotypes related to heritable or somatic conditions. The sector is primarily propelled by the increasing global incidence of chronic disorders and the rising demand for personalized medicine which necessitates precise biomarker identification for tailored therapies. According to the American Cancer Society, in 2025, it was projected that over 2 million new cancer cases would be diagnosed in the United States, representing a substantial patient pool requiring genomic profiling to guide effective treatment decisions.

Despite this growth potential, the market faces a significant challenge in the form of a complex and evolving regulatory landscape. Inconsistent reimbursement policies and uncertain oversight frameworks regarding Laboratory Developed Tests can impede the development and commercialization of new diagnostic assays. These regulatory hurdles often result in extended approval timelines and increased compliance costs, thereby limiting patient access to advanced testing solutions and constraining the revenue trajectory for established and emerging market participants.

Key Market Drivers

The Increasing Application of Genetic Testing in Oncology is a primary force reshaping the market, driven by the paradigm shift toward precision medicine and the critical need for companion diagnostics. As pharmaceutical companies develop targeted therapies, the demand for genomic profiling to identify eligible patients has intensified, directly boosting test volumes for diagnostic providers. This trend is further catalyzed by the regulatory authorization of new treatments; according to PharmaBoardroom, May 2025, the FDA approved seven new cell and gene therapies in 2024, creating a substantial downstream requirement for precise genetic assays. Companies specializing in liquid biopsy and molecular diagnostics are recording significant utilization spikes as a result. For instance, according to Guardant Health, October 2025, in its 'Third Quarter 2025 Financial Results', the company reported a 40% year-over-year increase in clinical oncology test volumes, reaching approximately 74,000 tests.

Concurrently, the Surging Adoption of Non-Invasive Prenatal Testing (NIPT) is expanding the market’s reach beyond oncology into reproductive health. The widespread acceptance of cell-free DNA screening for chromosomal abnormalities has transformed prenatal care, encouraging providers to integrate these safe, high-throughput solutions into routine practice. This adoption is evident in the operational scale of leading laboratories, which are processing record numbers of samples to meet patient and provider needs. According to Natera, November 2025, in its 'Third Quarter 2025 Financial Results', the company processed approximately 893,600 tests during the quarter, a 15.2% increase from the prior year, underscoring the robust and growing reliance on genetic screening technologies for reproductive and clinical applications.

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Key Market Challenges

The complex and evolving regulatory landscape, coupled with inconsistent reimbursement policies, presents a formidable barrier to the expansion of the Global Genetic Testing Market. This challenging environment creates significant uncertainty for laboratories, particularly regarding Laboratory Developed Tests, by imposing rigorous compliance demands that extend approval timelines. When oversight frameworks are unclear or payers enforce stringent coverage restrictions, the administrative burden on diagnostic providers increases drastically. These hurdles stifle innovation and discourage the commercialization of new assays, as companies face higher operational costs and delayed revenue recognition. Consequently, the market struggles to convert the rising demand for personalized medicine into actual testing volumes, as access is frequently blocked by bureaucratic impediments.

This disruption is substantiated by recent data highlighting the operational impact of coverage barriers. According to the American Medical Association, in 2024, 94% of surveyed physicians reported that prior authorization processes delay patient access to necessary care. Such administrative friction not only prolongs the time to diagnosis but often leads to test abandonment, directly reducing the number of genomic profiles performed and limiting the revenue potential for established and emerging market participants.

Key Market Trends

The Integration of Artificial Intelligence and Machine Learning for Genomic Data Interpretation is fundamentally altering the market's operational efficiency. As sequencing throughput increases, the volume of data generated exceeds manual analysis capabilities, necessitating automated solutions for variant classification and interpretation. This technological convergence allows laboratories to scale their bioinformatic pipelines, reducing turnaround times for complex diagnostic reports while enhancing accuracy. The commercial impact of this adoption is evident in recent industry surveys. According to NVIDIA, July 2025, in the 'State of AI in Healthcare and Life Sciences: 2025 Trends' survey, more than 80% of healthcare and life sciences professionals reported that AI has helped boost revenue at their organizations, highlighting the critical role of computational tools in driving financial performance for genomic entities.

Simultaneously, a Shift Toward Preventive Genomic Screening in Healthy Populations is expanding the addressable market beyond symptomatic patients. Health systems are increasingly moving from reactive diagnostics to proactive population health management, utilizing large-scale sequencing to identify risk factors for conditions such as hereditary cancer and cardiovascular disease before symptoms manifest. This transition is supported by major institutional partnerships designed to integrate genomic insights into routine primary care. For instance, according to TriHealth, February 2025, in a press release titled 'TriHealth Partners with Helix to Launch the Largest Precision Population Health Initiative in Southwest Ohio', the organization announced a strategic program to enroll 100,000 participants over five years, demonstrating the growing scale of initiatives aimed at leveraging genetic data for broad-based preventive care.

Segmental Insights

The Next Generation Sequencing segment represents the fastest-growing category within the Global Genetic Testing Market, driven by its capacity to analyze vast genomic data rapidly and cost-effectively. This technology is increasingly utilized in clinical diagnostics, particularly for oncology and rare genetic disorders where precise mutation identification is essential. The steady decline in operational costs has significantly broadened accessibility for laboratories and healthcare providers. Additionally, the rising number of approvals by regulatory authorities such as the U.S. FDA for diagnostic panels validates the reliability of the method and accelerates its adoption in mainstream medical practice.

Regional Insights

North America maintains a dominant position in the global genetic testing market, driven by the widespread adoption of genomic technologies in clinical diagnostics. The region benefits from a robust healthcare framework that supports the integration of personalized medicine into standard care. Market expansion is further facilitated by proactive regulatory support from the U.S. Food and Drug Administration (FDA), which ensures the safety and efficacy of new diagnostic products. Additionally, comprehensive reimbursement coverage provided by the Centers for Medicare & Medicaid Services (CMS) significantly reduces financial barriers for patients, thereby sustaining high market demand across the region.

Recent Developments

• In September 2025, Quest Diagnostics launched an advanced pharmacogenomic laboratory test service to assist healthcare providers in personalizing medication prescribing. This new offering analyzes seventeen genes and four HLA alleles to identify genetic variations that may influence an individual's response to specific drugs, covering therapeutic areas such as psychiatry, cardiology, and oncology. The service incorporates a clinical decision support tool powered by a partnership with InformedDNA, which helps clinicians interpret the results and minimize trial-and-error in treatment plans. By providing clear guidance on drug-gene interactions, the test is designed to improve patient safety and therapeutic efficacy while reducing healthcare costs associated with adverse drug events.
• In February 2025, Myriad Genetics established a strategic collaboration with PATHOMIQ to integrate artificial intelligence into its oncology diagnostics portfolio. The partnership grants Myriad Genetics exclusive rights in the United States to license the PATHOMIQ_PRAD platform, an AI-powered technology designed to predict clinical outcomes for prostate cancer patients. This solution analyzes digitized tissue samples to assess the risk of disease recurrence and metastasis, complementing the company's existing molecular prognostic tests. The collaboration aims to provide urologists and oncologists with robust, data-driven insights to guide personalized treatment decisions for patients undergoing active surveillance or post-surgical care.
• In August 2024, Illumina entered into a strategic research partnership with the Broad Institute of MIT and Harvard to advance the capabilities of single-cell sequencing. This collaboration focuses on developing and validating new workflows that leverage Illumina's Fluent technology to improve the sensitivity and scale of single-cell analysis. The initiative aims to create high-capacity tools for large-scale functional genomic screens, such as Perturb-seq, which allow researchers to study the effects of genetic interventions on cellular function. By combining the Broad Institute's scientific expertise with Illumina's sequencing platforms, the partners intend to accelerate the adoption of these methods for deeper biological discovery.
• In March 2024, Nucleus Genomics launched a new consumer-focused platform designed to make clinical-grade whole-genome sequencing more accessible to the general public. The company introduced a service that integrates an individual's genetic data with lifestyle and health factors to provide personalized risk assessments for diseases such as type 2 diabetes and breast cancer. This offering allows customers to order a comprehensive 30x whole-genome sequencing kit or upload existing genetic data for analysis. By utilizing a subscription model, the company aims to democratize access to genomic insights and enable users to continuously monitor their health risks based on their complete genetic profile.

Key Market Players

• 24Genetics SL
• Prenetics Global Limited
• Circle DNA
• TellmeGen
• 23andMe, Inc.
• AncestryDNA
• myDNA Life Australia Pty Ltd.
• Myriad Genetics, Inc.
• MapmyGenome
• MyHeritage Ltd.

By Technology	By Application	By Product	By Channel	By End User	By Region
Next Generation Sequencing Array Technology and PCR-based Testing	Ancestry & Ethnicity Traits Screening Genetic Disease Carrier Status New Baby Screening Health & Wellness-Predisposition/Risk/Tendency	Consumables Equipment and Software & Services	Online Offline	Hospitals & Clinics Diagnostic Laboratories and Others	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Genetic Testing Market, By Technology:

• Next Generation Sequencing
• Array Technology and PCR-based Testing

• Genetic Testing Market, By Application:

• Ancestry & Ethnicity
• Traits Screening
• Genetic Disease Carrier Status
• New Baby Screening
• Health & Wellness-Predisposition/Risk/Tendency

• Genetic Testing Market, By Product:

• Consumables
• Equipment
• and Software & Services

• Genetic Testing Market, By Channel:

• Online
• Offline

• Genetic Testing Market, By End User:

• Hospitals & Clinics
• Diagnostic Laboratories
• and Others

• Genetic Testing Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE