Hereditary Cancer Testing Market

• In July 2022, Helio Genomics and its business partner, Fulgent Genetics (FLGT) has announced that the American Medical Association (AMA) issued a new Category I Current Procedural Terminology (CPT) Proprietary Laboratory Analyses code for HelioLiver and broader adoption of advanced innovative surveillance tests for liver cancer in the U.S. This has helped the company to expand their product portfolio.

• In March 2022, Illumina, Inc. introduced the n vitro diagnostic (IVD) kit, a cancer RNA sequencer. The launch resulted in expansion of the sequencing product line, followed by post market approval.It is depicted to show a linear market growth.

In this report, the Hereditary Cancer Testing Market has been segmented by Test Type, Technology, Sample Type, Diagnosis Type, Application, End-User and Geography.

Hereditary Cancer Testing Market, Segmentation by Test Type

The Hereditary Cancer Testing Market has been segmented by Test Type into Genetic Testing, Carrier Screening, Expanded Panel Testing, and Single Gene Testing.

Genetic Testing

Genetic testing plays a crucial role in identifying mutations linked to hereditary cancers. It helps in predicting an individual's risk of developing conditions such as breast, ovarian, and colorectal cancers. Studies show that 15-20% of individuals with a family history of cancer carry a detectable genetic mutation. With increasing awareness and technological advancements, genetic testing adoption has grown, making early intervention strategies more effective.

Carrier Screening

Carrier screening is primarily used to detect whether an individual carries a gene mutation that could be passed on to offspring. This type of testing is essential in families with a history of hereditary cancers or rare genetic disorders. Globally, 10-12% of people undergoing carrier screening are found to carry mutations with potential clinical significance. This segment is gaining traction as preventive healthcare and family planning practices become more proactive.

Expanded Panel Testing

Expanded panel testing involves analyzing multiple genes simultaneously to assess cancer risk more comprehensively. This approach has become popular due to its ability to detect mutations that single gene tests might miss. Reports indicate that up to 25% of high-risk patients benefit from expanded panels, offering broader insights for personalized prevention and management strategies. This segment is particularly relevant in oncology clinics and research-focused healthcare facilities.

Single Gene Testing

Single gene testing focuses on evaluating a specific gene associated with a particular cancer type. While more limited in scope compared to expanded panels, it remains a cost-effective solution for targeted screening. Approximately 5-8% of individuals tested through single gene approaches are found to carry clinically significant mutations. This segment is widely used for patients with a strong family history of a specific hereditary cancer, offering clear and actionable results.

Hereditary Cancer Testing Market, Segmentation by Technology

The Hereditary Cancer Testing Market has been segmented by Technology into PCR (Polymerase Chain Reaction), Next-Generation Sequencing (NGS), and Sanger Sequencing.

PCR (Polymerase Chain Reaction)

PCR technology is a widely adopted method for detecting hereditary cancer mutations due to its high sensitivity and fast results. Approximately 30-35% of hereditary cancer tests utilize PCR, particularly for single gene and known mutation screening. Its affordability and ease of use make PCR a preferred method in diagnostic labs worldwide, supporting efficient genetic analysis and early detection.

Next-Generation Sequencing (NGS)

Next-Generation Sequencing (NGS) enables simultaneous analysis of multiple genes, providing comprehensive insights into hereditary cancer risk. Representing about 50-55% of the market, NGS is increasingly adopted in clinical and research laboratories. Its high-throughput capability and precision facilitate personalized medicine, early intervention, and targeted preventive strategies.

Sanger Sequencing

Sanger sequencing remains a trusted method for validating genetic variants in hereditary cancer testing. With 10-15% of tests employing this technology, Sanger sequencing is particularly valuable for confirming mutations identified through NGS or PCR. Its accuracy makes it essential for research, clinical validation, and precise genetic diagnosis.

Hereditary Cancer Testing Market, Segmentation by Sample Type

The Hereditary Cancer Testing Market has been segmented by Sample Type into Blood Sample, Saliva Sample, and Tissue Sample.

Blood Sample

Blood samples are the most widely used specimens in hereditary cancer testing, offering high-quality DNA for both single gene and multi-gene panel analyses. Studies show that 60-65% of tests use blood due to its reliability and ease of collection. Its compatibility with testing technologies like PCR and NGS makes it a preferred choice in diagnostic labs worldwide, supporting accurate and timely cancer risk assessment.

Saliva Sample

Saliva samples provide a non-invasive option for genetic testing, allowing patients to participate in testing programs without hospital visits. Around 20-25% of hereditary cancer tests are performed using saliva. Improved DNA extraction methods have enhanced its reliability, making it suitable for a wide range of genetic analyses while ensuring patient comfort.

Tissue Sample

Tissue samples, collected through biopsies, are critical for analyzing tumor DNA in certain hereditary cancer cases. Accounting for 10-15% of tests, tissue samples provide direct information about somatic mutations. Their use is particularly important for precise cancer diagnosis, research studies, and tailoring personalized treatment strategies.

Hereditary Cancer Testing Market, Segmentation by Diagnosis Type

The Hereditary Cancer Testing Market has been segmented by Diagnosis Type into Biopsy, Imaging and Others.

Biopsy

Biopsy remains a primary method for hereditary cancer diagnosis, providing tissue samples for precise mutation analysis. Around 55-60% of hereditary cancer diagnoses rely on biopsy procedures, making it essential for confirming suspected cancers. This approach is crucial in guiding targeted treatment plans and supporting accurate genetic assessment.

Imaging

Imaging techniques such as MRI, CT, and PET scans assist in identifying tumors associated with hereditary cancer risk. Although they do not provide direct genetic data, imaging supports early detection and monitoring, complementing genetic testing. About 25-30% of hereditary cancer diagnoses incorporate imaging to pinpoint abnormal growths and high-risk areas.

Others

The “Others” segment encompasses advanced and minimally invasive diagnostic methods like liquid biopsies and molecular assays. Representing 10-15% of hereditary cancer diagnoses, these emerging technologies are increasingly used for rapid and early detection, offering alternatives to traditional biopsy and imaging procedures.

Hereditary Cancer Testing Market, Segmentation by Application

The Hereditary Cancer Testing Market has been segmented by Application into Hereditary Cancer Risk Assessment, Carrier Status Identification, Prenatal Testing, and Predictive Testing.

Hereditary Cancer Risk Assessment

Hereditary cancer risk assessment is essential for evaluating an individual’s likelihood of developing cancer based on their genetic profile. Representing 40-45% of hereditary cancer tests, it plays a vital role in preventive care. This application enables healthcare providers to implement personalized screening strategies and recommend lifestyle interventions to reduce cancer risk.

Carrier Status Identification

Carrier status identification detects whether an individual carries mutations that could be inherited by their children. About 25-30% of hereditary cancer tests focus on this application, making it a critical tool for family planning. Genetic counseling and testing programs use carrier identification to guide reproductive decisions and manage hereditary cancer risks.

Prenatal Testing

Prenatal testing screens embryos or fetuses for genetic mutations linked to hereditary cancers. Accounting for 10-15% of hereditary cancer testing, this approach helps parents assess potential risks before birth. Advances in non-invasive prenatal testing have improved safety, accessibility, and accuracy, supporting informed healthcare decisions.

Predictive Testing

Predictive testing identifies individuals at elevated risk of hereditary cancers before any symptoms appear. Representing 20-25% of tests, it facilitates early detection and preventive measures. This application is particularly valuable for individuals with a family history of cancer, enabling proactive management and timely interventions.

Hereditary Cancer Testing Market, Segmentation by End-User

The Hereditary Cancer Testing Market has been segmented by End-User into Hospitals, Clinics and Diagnostic Centers.

Hospitals

Hospitals are key end-users of hereditary cancer testing, offering comprehensive diagnostic and treatment services. Representing 50-55% of the market, they integrate genetic testing, counseling, and follow-up care under one roof. Their advanced facilities and specialized personnel make hospitals crucial for accurate hereditary cancer detection and management.

Clinics

Clinics, including oncology and genetic counseling centers, provide hereditary cancer testing in outpatient settings. About 25-30% of tests are conducted in clinics, which are valued for early screening, preventive care, and patient-centered services. Clinics play a vital role in expanding access to hereditary cancer testing.

Diagnostic Centers

Diagnostic centers offer specialized hereditary cancer testing, emphasizing rapid, precise, and cost-effective genetic analysis. Accounting for 15-20% of the market, these centers are increasingly preferred for their advanced testing technologies and efficiency in delivering results. They complement hospitals and clinics by supporting large-scale testing needs.

Hereditary Cancer Testing Market, Segmentation by Geography

In this report, the Hereditary Cancer Testing Market has been segmented by Geography into five regions; North America, Europe, Asia Pacific, Middle East and Africa and Latin America.

Hereditary Cancer Testing Market Share (%), by Geographical Region

North America

North America dominates the hereditary cancer testing market, representing 35-40% of global demand. The region benefits from high adoption of genetic testing, advanced healthcare facilities, and strong research and diagnostic capabilities. Rising awareness about hereditary cancers and precision medicine further drives market growth in the U.S. and Canada.

Europe

Europe accounts for 25-30% of the market, with Germany, the U.K., and France leading in genetic testing adoption. Increasing investments in precision medicine and hereditary cancer awareness programs are boosting the demand for hereditary cancer tests. Well-established healthcare infrastructure supports market expansion across the region.

Asia Pacific

Asia Pacific is emerging as a high-growth market, contributing 15-20% of the global share. Growth is driven by rising healthcare expenditure, improved diagnostic infrastructure, and awareness of genetic risk factors. Major countries fueling this growth include China, India, and Japan, which are investing heavily in genetic testing technologies.

Middle East and Africa

Middle East and Africa hold around 5-7% of the hereditary cancer testing market. Increasing healthcare investments, expansion of genetic testing facilities, and awareness programs in countries like Saudi Arabia and UAE are driving market growth. However, limited access to advanced testing in some areas remains a challenge.

Latin America

Latin America contributes 5-8% of the market, led by Brazil, Mexico, and Argentina. Expansion of diagnostic services, investment in healthcare infrastructure, and growing awareness of hereditary cancers are key growth factors. The region is poised for steady market growth in the coming years.

This report provides an in depth analysis of various factors that impact the dynamics of Global Hereditary Cancer Testing Market. These factors include; Market Drivers, Restraints and Opportunities Analysis.

Drivers, Restraints and Opportunity Analysis

Hereditary Cancer Testing Market is marked by increasing competition among established diagnostic players and emerging biotechnology firms, with more than 45% of share held by leading providers. The landscape is defined by intensive strategies, robust collaboration, and continuous innovation aimed at improving detection accuracy and enabling faster growth through advanced genetic screening platforms.

Market Structure and Concentration
The market demonstrates a moderately concentrated profile, where top participants account for nearly 55% of the presence. Consolidation through merger and partnerships plays a crucial role in shaping competition. Mid-tier companies contribute significantly, supporting technological advancements and ensuring balanced market expansion across diagnostic and research domains.

Brand and Channel Strategies
Major players focus on differentiated strategies such as branding tests with higher sensitivity rates and channeling services through specialized clinics that contribute over 40% of adoption. Extensive collaboration with hospitals, laboratories, and research centers helps enhance credibility, while targeted partnerships strengthen customer outreach and sustainable growth in competitive regions.

Innovation Drivers and Technological Advancements
Technological advancements account for more than 50% of competitive differentiation, driven by breakthroughs in next-generation sequencing. Firms invest heavily in innovation pipelines that integrate bioinformatics and AI, strengthening precision. Strategic collaboration between genetic firms and software providers further enables faster expansion of hereditary testing solutions with improved diagnostic performance.

Regional Momentum and Expansion
North America leads with around 45% of overall market adoption, supported by strong strategies in insurance coverage and healthcare integration. Europe follows closely, focusing on regulatory collaboration and testing standardization. Asia-Pacific records the fastest growth with over 30% uptake, driven by healthcare expansion and rising research investments into hereditary cancer screening.

Future Outlook
The competitive outlook highlights continued innovation, with 60% of companies prioritizing partnerships in bioinformatics and AI-driven diagnostics. Rising collaboration among leading laboratories and biotech firms will accelerate market expansion. With strong strategies focused on affordability and accessibility, the sector is positioned for consistent growth and transformative technological integration in the coming years.

Key players in Hereditary Cancer Testing Market include:

• Myriad Genetics
• Invitae Corporation
• Illumina
• Roche
• Abbott Laboratories
• Agilent Technologies
• Bio-Rad Laboratories
• Danaher Corporation
• Eurofins Scientific
• QIAGEN
• Thermo Fisher Scientific
• Quest Diagnostics
• Laboratory Corporation of America
• Centogene
• F. Hoffmann-La Roche

In this report, the profile of each market player provides following information:

• Market Share Analysis
• Company Overview and Product Portfolio
• Key Developments
• Financial Overview
• Strategies
• Company SWOT Analysis