United States Genetic Testing Market By Technique (PCR, DNA Sequencing, Microarrays, Others), By Application (Cardiology, Oncology, Pharmacogenomics, Cognitive Dysfunction, Others), By Region, Competition, Forecast and& Opportunities, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 5.83 Billion
CAGR (2026-2031)	6.57%
Fastest Growing Segment	Oncology
Largest Market	West
Market Size (2031)	USD 8.54 Billion

Market Overview

The United States Genetic Testing Market will grow from USD 5.83 Billion in 2025 to USD 8.54 Billion by 2031 at a 6.57% CAGR. The United States Genetic Testing Market involves the utilization of diagnostic technologies that analyze DNA, RNA, chromosomes, or proteins to identify somatic or heritable mutations linked to specific diseases. The primary drivers fueling market expansion include the burgeoning demand for personalized medicine and the escalating prevalence of chronic conditions which require precise molecular diagnostics for optimal therapeutic selection. According to the American Cancer Society, in 2025, over 2 million new cancer cases are expected to be diagnosed in the United States, highlighting the critical volume of patients potentially requiring advanced genetic profiling to guide treatment decisions.

However, market growth faces a substantial challenge related to reimbursement and coding limitations. The rapid pace of test development often outstrips the establishment of distinct billing codes and consistent payer coverage policies, creating financial uncertainty for clinical laboratories and limiting patient access to novel diagnostics. This regulatory lag serves as a significant barrier that could impede the broader adoption of emerging genetic testing solutions across the healthcare continuum.

Key Market Drivers

The surge in oncology and prenatal screening applications is reshaping the United States Genetic Testing Market, driven by the escalating need for early detection and precision therapy selection. Clinicians are increasingly relying on molecular diagnostics for Minimal Residual Disease (MRD) monitoring and identifying candidates for targeted treatments. This demand is evidenced by rapid volume growth in clinical laboratories; according to Natera, November 2025, in the 'Third Quarter 2025 Financial Results', the company processed approximately 211,000 oncology tests, representing a 53.9% increase compared to the same period in the prior year. Additionally, the market is bolstered by the expanding arsenal of genetically targeted treatments available to patients. According to the International Society for Cell & Gene Therapy, January 2025, in the 'Cell & Gene Therapy Approvals in 2024' editorial, seven cell and gene therapy products received FDA marketing approval in 2024, directly necessitating robust companion diagnostic testing infrastructure to ensure patient eligibility.

Simultaneously, rapid advancements in Next-Generation Sequencing (NGS) technologies are lowering barriers to adoption by enhancing throughput and significantly reducing per-sample costs. The transition to high-throughput platforms allows laboratories to process complex genomic data with greater speed and accuracy, facilitating population-scale screening and comprehensive tumor profiling. This technological shift is reflected in the aggressive deployment of advanced sequencing instruments across the country. According to Illumina, February 2025, in the 'Fourth Quarter and Full Year 2024 Financial Results', the company reached an installed base of 630 NovaSeq X instruments, highlighting the industry's swift migration toward more powerful sequencing architectures. These technological strides are essential for managing the growing data volume and supporting the integration of genetic insights into routine clinical practice, ensuring that laboratories can meet the rising diagnostic loads efficiently.

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Key Market Challenges

Reimbursement and coding limitations constitute a formidable barrier to the growth of the United States Genetic Testing Market. As diagnostic capabilities evolve rapidly, the systems governing payment and coverage often fail to adapt at a commensurate speed. This disconnect creates a challenging environment where clinical laboratories develop advanced assays but struggle to secure necessary billing codes or consistent payer coverage. Consequently, labs frequently encounter high claim denial rates and prolonged revenue cycles, which directly erodes their financial stability. This regulatory lag forces many providers to limit their test offerings or shift the financial burden to patients, thereby reducing the overall accessibility of critical genetic insights needed for personalized care.

The impact of this financial uncertainty is severe and measurable within the industry. When payment structures remain ambiguous or inadequate, laboratories cannot justify the substantial investment required for new test validation and commercialization. According to the American Clinical Laboratory Association, in 2025, the diagnostic sector contended with scheduled Medicare reimbursement reductions of up to 15% for approximately 800 laboratory tests due to statutory payment adjustments. Such instability in reimbursement mechanisms discourages market entry for new players and hampers the ability of established laboratories to scale operations, ultimately stalling broader market expansion.

Key Market Trends

The Integration of Artificial Intelligence in Genomic Interpretation is fundamentally altering the United States Genetic Testing Market by automating the complex analysis of large-scale sequencing data, effectively shifting the industry focus from simple data generation to actionable clinical insights. As sequencing throughput accelerates, laboratories face a critical bottleneck in variant curation, which AI-driven bioinformatics is resolving by rapidly classifying variants of uncertain significance and matching patients to relevant clinical trials with unprecedented speed. This operational shift is driving significant commercial growth for technology-forward providers; according to Tempus AI, August 2024, in the 'Second Quarter 2024 Results', the company's genomics revenue reached $112.3 million, marking a 22.2% increase year-over-year fueled largely by the adoption of its AI-enabled diagnostic platform.

Simultaneously, the Mainstreaming of Pharmacogenomics in Routine Clinical Care is expanding beyond specialized centers into primary care and psychiatry, driven by the urgent need to optimize medication regimens and reduce adverse drug events. This trend is particularly evident in the mental health sector, where clinicians are increasingly utilizing combinatorial genetic testing to guide psychotropic drug selection, validating the utility of these assays in everyday practice despite broader reimbursement headwinds. The robust demand for such personalized medication management is quantified by recent financial performance; according to Myriad Genetics, November 2024, in the 'Third Quarter 2024 Financial Results', revenue from its GeneSight pharmacogenomics test rose to $47.7 million, representing a 34% growth compared to the same period in the previous year.

Segmental Insights

Oncology represents the fastest-growing segment in the United States genetic testing market, driven by the widespread transition toward precision medicine. The increasing prevalence of cancer has heightened the demand for diagnostic tools that identify specific mutations to guide personalized treatment. This growth is supported by the U.S. Food and Drug Administration granting approvals for companion diagnostics, which integrate testing with targeted therapeutic selection. Furthermore, expanded reimbursement coverage for somatic and hereditary cancer testing encourages clinical adoption, ensuring that oncology remains the primary driver of market expansion.

Regional Insights

The West US maintains the leading position in the United States genetic testing market due to a strong concentration of major biotechnology companies and diagnostic laboratories. This region benefits from an established infrastructure that supports genomic research and commercial product development, particularly in California. The presence of numerous facilities certified under the Clinical Laboratory Improvement Amendments ensures high standards for testing operations and accessibility. Additionally, substantial capital investment in the life sciences sector allows local enterprises to expand their testing capabilities effectively. These factors collectively secure the market dominance of the West US.

Recent Developments

• In April 2025, Illumina Inc. and Tempus AI, Inc. announced a collaboration to accelerate the clinical adoption of next-generation sequencing tests through novel evidence generation. The partnership focused on combining the sequencing company's artificial intelligence technologies with the partner's comprehensive multimodal data platform to train genomic algorithms. This initiative aimed to advance precision medicine by making molecular profiling more accessible and standardizing care across various disease categories, including oncology and cardiology. The collaboration built upon a long-standing relationship between the entities, leveraging their combined strengths to drive innovation in diagnostics and improve patient outcomes through enhanced genomic insights.
• In November 2024, 23andMe Holding Co. established a strategic research collaboration with Mirador Therapeutics to advance the development of precision medicines for immunological and inflammatory diseases. The agreement involved leveraging the genetic testing company's extensive database of de-identified genetic and phenotypic data alongside the partner's proprietary development engine. The goal of this alliance was to validate novel drug targets and accelerate the discovery of first-in-class therapeutics. Through this cooperation, the companies aimed to utilize large-scale human genetic insights to address unmet medical needs and improve the probability of success for new clinical programs in the immunology space.
• In October 2024, Myriad Genetics, Inc. entered into a strategic collaboration with Flatiron Health to integrate its hereditary cancer testing into a cloud-based electronic medical record platform. This partnership enabled oncologists and healthcare providers to order the MyRisk Hereditary Cancer Test and review results directly within their existing clinical workflows. The integration aimed to streamline the genetic testing process, reduce administrative burdens, and facilitate personalized treatment decisions at the point of care. By embedding these genomic insights into the electronic record system used by a large network of cancer care locations, the companies sought to improve patient access to vital genetic information.
• In May 2024, Natera, Inc. announced the launch of a new cell-free DNA-based fetal RhD test, designed to determine fetal RhD status from the blood of a pregnant patient as early as nine weeks into gestation. This non-invasive prenatal testing offering was introduced to assist healthcare providers in managing patient care during a nationwide shortage of Rho(D) immune globulin therapy. The company highlighted that the test determines whether a fetus has inherited the RhD antigen, enabling targeted interventions. The launch was supported by a validation study demonstrating high sensitivity and specificity, which was accepted for presentation at a major clinical meeting.

Key Market Players

• Invitae Corporation
• 23andMe, Inc
• Genomics Plus
• Myriad Genetics, Inc.
• Ambry Genetics Corporation
• BGI Genomics Co., Ltd.
• Blueprint Genetics Oy.
• F Hoffmann-La Roche Ltd
• BioReference Health, LLC
• Fulgent Genetics, Inc.

By Technique	By Application	By Region
PCR DNA Sequencing Microarrays Others	Cardiology Oncology Pharmacogenomics Cognitive Dysfunction Others	Northeast Midwest South West

Report Scope:

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

• United States Genetic Testing Market, By Technique:

• PCR
• DNA Sequencing
• Microarrays
• Others

• United States Genetic Testing Market, By Application:

• Cardiology
• Oncology
• Pharmacogenomics
• Cognitive Dysfunction
• Others

• United States Genetic Testing Market, By Region:

• Northeast
• Midwest
• South
• West