United States Hereditary Genetic Testing Market By Technique (PCR, DNA Sequencing, Microarrays, Others), By Application (Cardiology, Oncology, Pharmacogenomics, Cognitive Dysfunction, Pathogenomics, Others), By Payer (Public Health Insurance, Private Health Insurance, Out of Pocket), By End User (Hospitals, Independent Laboratories), By Region, Competition Forecast & Opportunities 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 2.23 Billion
CAGR (2026-2031)	23.13%
Fastest Growing Segment	PCR
Largest Market	West
Market Size (2031)	USD 7.77 Billion

Market Overview

The United States Hereditary Genetic Testing Market will grow from USD 2.23 Billion in 2025 to USD 7.77 Billion by 2031 at a 23.13% CAGR. Hereditary genetic testing involves the analysis of germline DNA to identify inherited mutations that predispose individuals to specific genetic disorders or cancers. The expansion of this market is primarily driven by the increasing emphasis on preventive healthcare and the declining costs of advanced sequencing technologies, which allow for broader adoption of predictive diagnostics. Increasing disease prevalence further necessitates the use of risk assessment tools for early intervention. According to the American Cancer Society, in 2025, over 2 million new cancer cases are expected to be diagnosed in the United States, underscoring the critical need for genetic screening to identify hereditary risks and improve patient outcomes.

A significant challenge impeding the growth of the United States Hereditary Genetic Testing Market is the uncertain regulatory landscape regarding laboratory developed tests. The heightened oversight proposed by federal agencies introduces strict compliance burdens and operational complexities that may delay the commercialization of new assays. Furthermore, inconsistent reimbursement policies and fragmented coding structures across various payers frequently result in claim denials, thereby limiting patient access to these essential diagnostic services and constraining revenue potential for clinical laboratories.

Key Market Drivers

Advancements in Next-Generation Sequencing (NGS) technologies constitute a primary catalyst for market expansion, fundamentally altering the economic accessibility and speed of hereditary screening. The continuous refinement of high-throughput sequencing platforms has drastically reduced the cost per gigabase, enabling laboratories to perform comprehensive pan-cancer and germline panels at a fraction of historical prices. This technological leap democratizes access to critical health data and empowers preventive strategies by identifying at-risk individuals before disease onset. According to Front Line Genomics, March 2025, in the article 'The $100 Genome: Where's the Limit?', as of 2024, sequencing leader Illumina claimed it could achieve whole genome sequencing for as little as $200, significantly lowering the financial barrier to entry for widespread adoption.

The growing adoption of personalized medicine and targeted therapies further propels the industry as clinicians increasingly rely on molecular profiles to guide treatment decisions. This shift moves medical focus from reactive management to proactive, precision-based care, where genetic test results dictate the selection of gene-specific pharmacotherapies and risk mitigation plans. According to Natera, Inc., January 2025, in the 'Natera Announces Preliminary Fourth Quarter and Full-Year Results for 2024' press release, the company processed approximately 3.06 million tests in the full year 2024, an increase of 22.8% compared to the prior year, reflecting this surging clinical demand. To support this expanding diagnostic landscape, the regulatory infrastructure is also evolving; according to TechTarget, September 2024, in the article 'AMA 2025 CPT code set updates focus on novel genetic testing', the American Medical Association introduced 270 new codes in the 2025 set, with 37% dedicated to proprietary laboratory analyses for novel genetic testing.

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Key Market Challenges

The uncertain regulatory landscape regarding laboratory developed tests constitutes a significant structural challenge impeding the United States Hereditary Genetic Testing Market. Historically regulated under the Clinical Laboratory Improvement Amendments, these proprietary assays are now facing heightened federal oversight that classifies them as medical devices. This regulatory shift forces clinical laboratories to navigate complex premarket review processes and implement rigorous quality systems similar to those required for manufactured devices. The substantial financial investment and extended timelines necessary for compliance divert critical resources away from research and development, effectively stalling the rapid innovation of new genetic panels intended for hereditary risk assessment.

This increased administrative burden directly contracts the market by threatening the viability of specialized diagnostic offerings. Laboratories unable to sustain the high costs of validation and approval may discontinue low-volume but clinically vital tests, thereby reducing patient access to preventive screening. According to the American Clinical Laboratory Association, in 2024, the new federal framework was estimated to subject nearly 80,000 existing laboratory developed tests to these onerous regulatory requirements. Such a wide-reaching disruption limits the commercialization of advanced assays and constrains revenue growth within the United States Hereditary Genetic Testing Market.

Key Market Trends

Growing Utilization of Polygenic Risk Scores for Risk Stratification is transforming the United States Hereditary Genetic Testing Market by enabling clinicians to assess disease susceptibility with greater precision than traditional monogenic testing. Unlike standard panels that identify pathogenic mutations in specific high-risk genes, polygenic risk scores (PRS) aggregate the cumulative effect of thousands of common genetic variants to calculate a personalized lifetime risk profile. This methodology is particularly valuable for the large segment of the population that tests negative for major hereditary markers but still possesses a significantly elevated risk due to polygenic factors. According to Myriad Genetics, Inc., August 2025, in the 'Myriad Genetics Reports Second Quarter 2025 Financial Results' press release, the company reported that testing volume for its MyRisk assay with RiskScore grew 14% year-over-year in the oncology segment, illustrating the rapid clinical integration of these advanced risk stratification tools.

Widespread Adoption of Multi-Gene Panel Testing is simultaneously driving market expansion as the industry shifts from symptom-based, single-gene analysis to comprehensive pan-cancer and pan-disease screening strategies. This trend allows laboratories to utilize high-throughput sequencing platforms to analyze dozens of genes simultaneously, thereby maximizing diagnostic yield and ensuring that rare or unexpected mutations are not overlooked during the initial assessment. The scalability of these broad panels facilitates their deployment across diverse medical specialties, supporting the growing demand for preventive genomic insights in both affected and unaffected populations. According to Natera, Inc., May 2025, in the 'Natera Reports First Quarter 2025 Financial Results' press release, the company processed approximately 855,100 tests during the quarter, representing a 16.2% increase compared to the prior year, a surge driven by the robust uptake of its diversified molecular testing portfolio.

Segmental Insights

The Polymerase Chain Reaction segment is currently recognized as the fastest-growing category within the United States Hereditary Genetic Testing Market. This rapid expansion is primarily driven by the high specificity and cost-efficiency of the technology in identifying specific single-gene mutations. The U.S. Food and Drug Administration regularly grants approvals for PCR-based diagnostic kits, which significantly enhances clinical confidence and promotes integration into standard medical workflows. Furthermore, the capability of this method to deliver quick results addresses the rising demand for efficient screening among individuals with a known family history of genetic disorders.

Regional Insights

The West region leads the United States Hereditary Genetic Testing Market due to a high concentration of established market players and biotechnology hubs, particularly in California. This dominance is supported by substantial investment in genomic research and a robust healthcare infrastructure that facilitates the widespread adoption of diagnostic services. Additionally, the presence of numerous CLIA-certified laboratories ensures adherence to strict federal quality standards, which fosters trust among medical professionals. The alignment of favorable reimbursement frameworks with advanced clinical capabilities further solidifies the position of the West as the primary contributor to national market revenue.

Recent Developments

• In October 2024, Fulgent Genetics announced that it was awarded a five-year contract by the U.S. Department of Veterans Affairs to provide hereditary cancer and pharmacogenetic testing. This agreement expanded the company's existing relationship with the agency to include clinical testing for veterans with cancer or a family history of the disease. The contract aimed to enhance personalized medicine for veterans by utilizing genomic information to guide treatment and identify potential health risks. This collaboration highlighted the company's growing role in delivering high-quality genetic testing services to large-scale healthcare systems.
• In September 2024, Ambry Genetics announced significant enhancements to its hereditary cancer testing portfolio at the National Society of Genetic Counselors Annual Conference. The company introduced an updated, evidence-informed test menu designed to align with the latest consensus guidelines and scientific data. Key improvements included the addition of new indications and genes for more comprehensive assessment, as well as increased flexibility for providers to customize panels. The company also highlighted the inclusion of paired DNA and RNA sequencing to reduce inconclusive results and increase diagnostic yield, ensuring clinicians have the most accurate information for patient care.
• In September 2024, Myriad Genetics presented ten studies demonstrating advancements in hereditary cancer and reproductive genetic testing at the National Society of Genetic Counselors Annual Conference. The research highlighted the clinical value of the company's hereditary cancer test and prenatal screens in improving patient care. Key findings included data on breast cancer diagnosis age for specific gene variants and the validation of prenatal screens for rare conditions. These studies underscored the company's focus on expanding the application of genetic insights to guide treatment decisions and assess disease risk across various medical specialties.
• In May 2024, Natera, Inc. announced the presentation of new research data regarding its hereditary cancer test at the American Society of Clinical Oncology (ASCO) Annual Meeting. The company showcased a poster presentation for its hereditary cancer screening test, which is designed to identify patients with pathogenic variants in high-risk cancer predisposition genes. This research highlighted the test's utility in clinical practice and its role in personalized genetic testing. The presentation was part of a broader showcase of the company's advancements in oncology, demonstrating its commitment to improving patient outcomes through precise genetic insights.

Key Market Players

• LaboratoryCorporationofAmericaHoldings
• QuestDiagnosticsIncorporated
• F.HoffmannLaRocheLtd.
• MyriadGeneticsInc.
• InvitaeCorporation
• IlluminaInc.
• NateraInc.
• AgilentTechnologiesInc.
• ThermoFisherScientificInc.
• FulgentGeneticsInc.

By Technique	By Application	By Payer	By End User	By Region
PCR DNA Sequencing Microarrays Others	Cardiology Oncology Pharmacogenomics Cognitive Dysfunction Pathogenomics Others	Public Health Insurance Private Health Insurance Out of Pocket	Hospitals Independent Laboratories	Northeast Midwest South West

Report Scope:

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

• United States Hereditary Genetic Testing Market, By Technique:

• PCR
• DNA Sequencing
• Microarrays
• Others

• United States Hereditary Genetic Testing Market, By Application:

• Cardiology
• Oncology
• Pharmacogenomics
• Cognitive Dysfunction
• Pathogenomics
• Others

• United States Hereditary Genetic Testing Market, By Payer:

• Public Health Insurance
• Private Health Insurance
• Out of Pocket

• United States Hereditary Genetic Testing Market, By End User:

• Hospitals
• Independent Laboratories

• United States Hereditary Genetic Testing Market, By Region:

• Northeast
• Midwest
• South
• West