Hereditary Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type (Hereditary Cancer Testing, Hereditary Non-cancer Testing), By Technology (Cytogenetic, Biochemical, Molecular Testing), By Region and Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 6.73 Billion
CAGR (2026-2031)	7.88%
Fastest Growing Segment	Biochemical
Largest Market	North America
Market Size (2031)	USD 10.61 Billion

Market Overview

The Global Hereditary Testing Market is projected to grow from USD 6.73 Billion in 2025 to USD 10.61 Billion by 2031 at a 7.88% CAGR. Hereditary testing is defined as the laboratory analysis of human DNA, chromosomes, or proteins to detect genetic variations linked to inherited disorders or disease susceptibility. The primary drivers supporting market growth include the rising incidence of chronic diseases with genetic underpinnings and the decreasing costs associated with genomic sequencing technologies. These factors enable healthcare providers to integrate preventative screening into routine care more effectively. According to the American Cancer Society, in 2025, approximately 2,041,910 new cancer cases are projected to be diagnosed in the United States. This high volume of diagnoses highlights the critical necessity for accessible genetic screening tools to identify hereditary risks early.

One significant challenge that could impede market expansion is the lack of standardized reimbursement policies and insurance coverage for genetic services. Inconsistent payment models across different regions create financial barriers that limit patient access to essential hereditary tests and restrict broader adoption by medical institutions.

Key Market Drivers

Rapid advancements in Next-Generation Sequencing (NGS) technologies serve as a primary catalyst for the Global Hereditary Testing Market by significantly enhancing test throughput and accessibility. The continuous evolution of genomic sequencing platforms has enabled laboratories to process vast volumes of samples with greater speed and reduced operational costs, thereby facilitating the widespread adoption of carrier screening and prenatal testing. This scalability is evident in the operational milestones of major industry players. According to Natera, February 2025, in the 'Fourth Quarter and Full Year 2024 Financial Results', the company processed approximately 3,064,600 tests in 2024, representing a substantial increase in volume driven by technological capacity. Such high-throughput capabilities allow healthcare providers to integrate comprehensive genetic insights into routine patient care, moving beyond limited panels to broader exome and genome assessments.

The rising demand for personalized medicine and precision therapeutics further accelerates market expansion, particularly within the oncology sector where genetic profiling guides treatment selection. Clinicians increasingly rely on hereditary and somatic testing to identify specific mutations that dictate the use of targeted therapies, ensuring that patients receive regimens tailored to their unique genomic profiles. This shift towards biomarker-driven care is reflected in the growing utilization of precision oncology diagnostics. According to Guardant Health, February 2025, in the 'Fourth Quarter and Full Year 2024 Financial Results', the company reported approximately 206,700 oncology clinical tests in 2024, highlighting the critical role of genetic diagnostics in cancer management. Additionally, the commercial viability of these services continues to strengthen across the broader sector. According to Myriad Genetics, in 2025, the company reported third-quarter revenue of $205.7 million, underscoring the sustained financial investment and value generation within the hereditary testing landscape.

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Key Market Challenges

The lack of standardized reimbursement policies and insurance coverage acts as a significant restraint on the Global Hereditary Testing Market. Because payment models differ drastically across regions and insurance providers, laboratories and medical facilities face substantial financial uncertainty. This inconsistency forces healthcare institutions to limit their adoption of genetic screening programs, as they cannot assume that the costs for these sophisticated diagnostic services will be adequately reimbursed. Consequently, patients frequently encounter prohibitive out-of-pocket expenses or complex administrative requirements that effectively block access to essential testing.

These financial and administrative hurdles directly reduce the volume of tests performed. According to the American Medical Association, in 2024, 94% of physicians reported that prior authorization protocols delay access to necessary care. This high level of friction in the reimbursement process discourages providers from ordering hereditary tests for preventative purposes, restricting usage primarily to high-risk diagnostic scenarios. As long as coverage remains fragmented and approval processes remain burdensome, the market cannot achieve the widespread adoption necessary for sustained growth.

Key Market Trends

The integration of Artificial Intelligence in variant interpretation is fundamentally altering laboratory workflows by resolving the data analysis bottleneck created by high-throughput sequencing. As the volume of detected genetic variants outpaces human curation capacity, laboratories are adopting machine learning algorithms to automate pathogenicity assessment and prioritize clinically relevant findings. This adoption accelerates test turnaround times while maintaining high diagnostic accuracy, a critical factor for scaling precision medicine. According to SeqOne, December 2025, in the 'AI in Clinical Genomics' report, the company's AI-driven analysis solution identified 96% of diagnostic variants within concise shortlists, highlighting the significant efficiency gains and validation of automated interpretation tools in clinical environments.

Simultaneously, the market is undergoing a diversification into non-oncology hereditary disease applications, extending the utility of genetic testing beyond its traditional cancer-centric focus. Clinicians are increasingly incorporating genomic profiling into cardiology and pharmacogenomics to facilitate early intervention and optimize medication selection for chronic conditions. This broadening clinical scope is propelling segment growth as healthcare systems recognize the value of preventative screening for diverse cardiovascular and metabolic disorders. According to Myriad Genetics, February 2025, in the 'Fourth Quarter and Full-Year 2024 Financial Results', the company reported a 14% increase in pharmacogenomics testing revenue during the quarter, demonstrating the robust commercial traction of hereditary diagnostics in wider medical specialties.

Segmental Insights

Based on industry analysis, the Biochemical segment is identified as the fastest-growing category within the Global Hereditary Testing Market, primarily driven by the widening implementation of universal newborn screening programs. This growth is fueled by the critical necessity for early detection of inborn errors of metabolism, where biochemical assays serve as the standard first-line diagnostic tool. Unlike genomic sequencing, these tests provide rapid, cost-effective metabolic profiling essential for high-throughput population screening. Furthermore, advancements in tandem mass spectrometry have significantly enhanced test sensitivity, encouraging healthcare systems and regulatory frameworks to mandate these protocols for the timely management of rare genetic disorders.

Regional Insights

North America holds the leading position in the global hereditary testing market, driven by established healthcare infrastructure and a high prevalence of genetic disorders. This dominance is supported by significant government funding for genomic research and the concentration of key diagnostic companies within the United States. Furthermore, favorable reimbursement policies and clear regulatory pathways established by the U.S. Food and Drug Administration facilitate the development and commercialization of diagnostic solutions. These factors, combined with the growing adoption of precision medicine, ensure sustained market expansion and accessibility across the region.

Recent Developments

• In April 2025, Illumina and Tempus AI announced a strategic collaboration to accelerate the clinical adoption of next-generation sequencing for precision medicine. The partnership focused on combining Illumina’s artificial intelligence-driven molecular analysis technologies with the extensive multimodal data platform managed by Tempus AI. The companies aimed to generate novel insights and build evidence packages to standardize the use of comprehensive genomic profiling across various disease categories, including oncology and hereditary conditions. This collaboration was designed to overcome barriers to testing and ensure that more patients could benefit from personalized genetic insights and targeted therapies.
• In September 2024, Ambry Genetics launched an enhanced hereditary cancer test menu, which was unveiled at the National Society of Genetic Counselors Annual Conference. This development included updates to its testing offerings designed to improve the identification of high-risk patients and streamline the ordering process for clinicians. The company highlighted that the updated menu was part of its broader strategy to innovate in the hereditary testing space, alongside other advancements such as the ExomeReveal test. These improvements were intended to support healthcare providers in making more informed medical management decisions for patients with suspected hereditary cancer syndromes.
• In September 2024, Myriad Genetics presented new research data highlighting advancements in its hereditary cancer and reproductive genetic testing portfolios at the National Society of Genetic Counselors Annual Conference. The company showcased ten studies that demonstrated the clinical value of its genetic testing products, including the MyRisk Hereditary Cancer Test. One significant study analyzed the age of breast cancer diagnosis in women with specific pathogenic variants, providing evidence to support personalized care. The research underscored the company's commitment to expanding the clinical evidence base for its hereditary testing solutions to help clinicians better assess cancer risk and improve patient outcomes.
• In April 2024, Quest Diagnostics entered into a research collaboration with Broad Clinical Labs to evaluate the clinical utility of whole genome sequencing as a primary genetic test for developmental delay disorders. The companies aimed to demonstrate that whole genome sequencing could serve as a more efficient first-line diagnostic tool compared to the conventional multi-test cascade often required for postnatal diagnosis. By combining the laboratory scale of Quest Diagnostics with the genomic expertise of Broad Clinical Labs, the initiative sought to validate a testing approach that could potentially accelerate diagnosis, reduce healthcare costs, and improve patient access to essential genetic insights for hereditary conditions.

Key Market Players

• Myriad Genetics, Inc.
• Illumina, Inc.
• Natera, Inc.
• Laboratory Corporation of America Holdings
• F. Hoffmann-La Roche Ltd.
• Quest Diagnostics Incorporated
• COOPERSURGICAL, INC.
• Agilent Technologies, Inc.
• Thermo Fisher Scientific, Inc.
• SOPHiA GENETICS SA

By Disease Type	By Technology	By Region
Hereditary Cancer Testing Hereditary Non-cancer Testing	Cytogenetic Biochemical Molecular Testing	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

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

• Hereditary Testing Market, By Disease Type:

• Hereditary Cancer Testing
• Hereditary Non-cancer Testing

• Hereditary Testing Market, By Technology:

• Cytogenetic
• Biochemical
• Molecular Testing

• Hereditary 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