Global Hereditary Cancer Testing Market Growth, Share, Size, Trends and Forecast (2025 - 2031)

• 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.

The Global Hereditary Cancer Testing Market is segmented by several key factors, including test type, technology, sample type, diagnosis type, application, and end-user. By test type, the market is divided into genetic testing, carrier screening, expanded panel testing, and single gene testing, with genetic testing being the most commonly used method for identifying hereditary cancer risks. Carrier screening and expanded panel testing are gaining popularity, as they provide broader insights into multiple genetic mutations that may predispose individuals to various cancers. By technology, the market is dominated by PCR (Polymerase Chain Reaction), which remains widely used due to its accuracy and ability to amplify DNA, enabling the detection of specific genetic mutations. Next-Generation Sequencing (NGS) is emerging as a more advanced technology, providing comprehensive data and allowing for the analysis of multiple genes at once, making it popular for expanded genetic panels. Sanger sequencing is also used, though it is gradually being replaced by more efficient techniques like NGS.

In terms of sample type, blood samples are the most common, as they offer high accuracy and ease of collection, followed by saliva and tissue samples, which are sometimes used when blood samples are not available or when a more detailed genetic analysis is required. By diagnosis type, the market is segmented into biopsy, imaging, and other methods, with biopsy being particularly important for confirming the presence of cancer in patients with suspected genetic predispositions. In application, hereditary cancer risk assessment and carrier status identification are the leading applications, as more individuals seek testing to understand their genetic risks for various cancers. Prenatal testing and predictive testing are also growing areas of interest, particularly as awareness about hereditary cancer risks rises. By end-user, the market is primarily driven by hospitals, clinics, and diagnostic centers, which play a central role in providing genetic testing services to patients. Geographically, the market is expanding in North America, Europe, Asia Pacific, Middle East and Africa, and Latin America, with regions like North America and Europe experiencing the highest demand due to increased healthcare access and rising awareness about genetic testing. The growing adoption of hereditary cancer testing is expected to continue, driven by technological advancements, increased awareness, and the rising incidence of hereditary cancers.

Global Hereditary Cancer Testing Segment Analysis

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

Global Hereditary Cancer Testing Market, Segmentation by Test Type

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

The Global Hereditary Cancer Testing Market is segmented by diagnosis test type into genetic testing, carrier screening, expanded panel testing, and single gene testing. Genetic testing is the most widely used method, allowing for the identification of genetic mutations that increase the risk of various types of hereditary cancers. It helps individuals assess their predisposition to cancer based on their genetic profile. Carrier screening focuses on identifying individuals who carry a genetic mutation for a certain hereditary condition, even if they don't exhibit symptoms, helping to inform family planning and genetic counseling. Expanded panel testing is becoming more prevalent, as it tests for a broad range of mutations across multiple genes, offering a comprehensive approach to identifying cancer risks.

This method is particularly useful for patients with a family history of various cancers, as it can reveal a wider spectrum of potential genetic predispositions. Lastly, single gene testing involves analyzing one specific gene associated with hereditary cancer, such as BRCA1 or BRCA2, and is typically used when there is a known family history or a specific concern regarding a single gene mutation. The increasing awareness of genetic risks and the growing availability of genetic counseling services are driving the demand for these testing types, making them a crucial part of early cancer detection and prevention strategies. The segmentation by diagnosis test type allows healthcare providers to offer more tailored testing solutions depending on individual risk factors and family history.

Global Hereditary Cancer Testing Market, Segmentation by Technology

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

PCR is a widely used technology in hereditary cancer testing due to its accuracy and ability to amplify specific regions of DNA. It enables the detection of mutations or alterations in known cancer-related genes, making it a cost-effective and reliable method for targeted genetic testing. Next-Generation Sequencing (NGS) is gaining significant traction in the market as it offers high-throughput, high-speed analysis, allowing for the sequencing of multiple genes simultaneously. NGS is particularly useful for expanded panel testing, as it provides comprehensive genetic information and is capable of detecting a wide variety of mutations in a single test. This technology is preferred for more complex cases, where the risk of hereditary cancer may involve multiple genetic factors. Sanger Sequencing, while more traditional, is still used for analyzing individual genes and is known for its accuracy, especially for sequencing smaller DNA fragments. It is often used for single-gene tests and for confirming results obtained through other methods like NGS. Each of these technologies serves a unique purpose in the hereditary cancer testing market, with NGS leading the way for more comprehensive, high-throughput genetic testing, while PCR and Sanger sequencing remain essential for targeted and specific genetic analyses. The choice of technology often depends on the testing requirements, cost considerations, and the complexity of the genetic analysis needed.

Global Hereditary Cancer Testing Market, Segmentation by Sample Type

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

Blood samples are the most commonly used for hereditary cancer testing due to their ability to provide a wealth of genetic material, making them highly accurate for detecting mutations associated with hereditary cancers. Blood is also easy to collect and is widely accepted by healthcare providers for genetic testing. Saliva samples have gained popularity as a non-invasive alternative to blood samples, offering convenience and ease of collection for patients. While slightly less common than blood, saliva samples are increasingly used in direct-to-consumer genetic tests and for basic screening in genetic counseling. They are less intrusive and are preferred in certain circumstances, especially for individuals who may have difficulty with blood draws. Tissue samples are generally used when more detailed genetic analysis is required, particularly in cases where a biopsy has been performed or when the testing focuses on specific cancerous tissue. Tissue samples provide insight into the genetic makeup of tumors, allowing for more targeted cancer risk assessment, especially when hereditary cancer is suspected in individuals already diagnosed with cancer. The segmentation by sample type allows healthcare providers to select the most appropriate method based on the patient's circumstances, making it possible to offer personalized genetic testing services.

Global Hereditary Cancer Testing Market, Segmentation by Diagnosis Type

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

Breast and Ovarian Cancer: This segment holds the largest share due to the high prevalence of these cancers and the availability of well-established genetic tests like BRCA1 and BRCA2 mutations. Increased awareness and targeted campaigns for these cancers further drive this segment's growth.

Colorectal Cancer: This segment is experiencing significant growth due to the rising incidence of colorectal cancer and the identification of genes like Lynch Syndrome (MLH1, MSH2, MSH6, PMS2) associated with it. Early detection through genetic testing allows for preventive measures like colonoscopies.

Other Hereditary Cancers: This segment includes tests for various cancers like gastric, pancreatic, prostate, and melanoma. Advancements in genetic testing technology and the discovery of new cancer-susceptibility genes are expected to propel this segment forward in the coming years.

Global Hereditary Cancer Testing Market, Segmentation by Application

The Global 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 is one of the most prominent applications, as it helps individuals understand their genetic predisposition to certain types of cancer. This is particularly useful for individuals with a family history of cancer, enabling them to make informed decisions about their health and preventive measures. Carrier status identification is focused on identifying whether an individual carries a genetic mutation that could be passed on to their children, even if they are not personally affected by the condition. This application is essential for family planning, particularly for conditions like breast cancer linked to BRCA1 and BRCA2 mutations. Prenatal testing involves testing unborn babies for inherited genetic mutations that may increase their risk of developing cancer later in life. It provides crucial information to expecting parents, allowing them to make decisions based on potential health risks for their child. Predictive testing focuses on determining whether an individual carries a genetic mutation that may predispose them to develop cancer in the future, even if they have not yet been diagnosed. This application plays an essential role in early cancer detection and in helping individuals take preventive measures, such as regular screenings or lifestyle changes. Each of these applications serves a different purpose in hereditary cancer testing, and their growing use is driven by the increasing awareness of genetic risks and the desire for personalized healthcare strategies.

Global Hereditary Cancer Testing Market, Segmentation by End-User

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

The global hereditary cancer testing market is divided into several segments by end-user, each playing a crucial role in making these tests accessible. Hospitals, particularly private institutions, are expected to hold the largest market share. This dominance stems from the rising number of hospitals, increasing healthcare spending, and the trend of cancer patients seeking early diagnosis through hospital visits.

Diagnostic centers are another key segment within the end-user category. These facilities are often equipped with advanced testing technologies and cater specifically to diagnostic needs, attracting a dedicated segment of the market.

Clinics, though potentially having a smaller market share compared to hospitals, still play a significant role. They provide a convenient and accessible option for patients seeking hereditary cancer testing, particularly in regions with a high density of clinics.

Global Hereditary Cancer Testing Market, Segmentation by Geography

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

Global Hereditary Cancer Testing Market Share (%), by Geographical Region, 2024

The global hereditary cancer testing market is expected to see significant growth across various geographical regions. North America currently holds the dominant position due to factors like high awareness of genetic testing, established healthcare infrastructure, and supportive government policies. The presence of major market players and ongoing research activities further contribute to North America's lead.

The Asia Pacific region is projected to witness the fastest growth rate in the coming years. This can be attributed to factors like rising disposable income, increasing awareness about hereditary cancers, and growing government initiatives to promote genetic testing. Additionally, the expanding population and the increasing prevalence of cancer in this region are creating a significant demand for hereditary cancer testing.

Europe is another key market for hereditary cancer testing. The region benefits from a well-developed healthcare system, high adoption rates of advanced technologies, and a growing focus on preventive healthcare. Additionally, the presence of a large pool of skilled professionals and well-established reimbursement policies are propelling the market forward in Europe. The increasing collaboration between research institutions and pharmaceutical companies is also expected to contribute to the market's growth in this region.

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

Key players in Global Hereditary Cancer Testing Market include:

• Myriad Genetic
• Myogenes
• Laboratory Corporation of America
• Biocartis NV
• Quest Diagnostics
• Pathway Genomics
• Invitae Corporation
• Strand Life Sciences Pvt. Ltd.

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

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