HEREDITARY TESTING MARKET SIZE AND SHARE ANALYSIS - GROWTH TRENDS AND FORECASTS (2025-2032)

Global Hereditary Testing Market Size and Forecast – 2025 to 2032

The Global Hereditary Testing Market is estimated to be valued at USD 7.81 Bn in 2025 and is expected to reach USD 13.84 Bn by 2032, exhibiting a compound annual growth rate (CAGR) of 8.5% from 2025 to 2032. The market's growth is primarily driven by the increasing prevalence of genetic disorders, advancements in genetic testing technologies, and rising awareness about the importance of early diagnosis and prevention of hereditary diseases.   

Key Takeaways of the global hereditary testing market

• Predictive testing dominates with an estimated share of 35.6% in 2025.
• Next-Generation Sequencing (NGS) is expected to lead with 22.2% share in 2025.
• Oncology is projected to hold the highest share of 25.2% in 2025.
• North America is expected to lead the market, holding a share of 38.3% in 2025. Asia Pacific is anticipated to be the fastest-growing region, with a market share of 25.2% in 2025.

Market Overview

The trend in the hereditary testing market is towards the development of more comprehensive and cost-effective genetic testing solutions. The integration of next-generation sequencing (NGS) and microarray technologies has enabled the analysis of multiple genes simultaneously, leading to faster and more accurate diagnoses. Additionally, the growing demand for personalized medicine and the increasing adoption of direct-to-consumer genetic testing are expected to fuel market growth in the coming years.

Current Events and Its Impact

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Segmental Insights

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Hereditary Testing Market Insights, By Test Type - Predictive Testing Dominates the Market due to Advancements in Genetic Science and Growing Health Awareness

In terms of test type, predictive testing is expected to contribute the highest share of the market with 35.6% in 2025 owing to several key factors. Predictive testing has gained significant traction in recent years due to the rapid advancements in genetic science and technology. With the increasing understanding of the human genome and the identification of genetic markers associated with various diseases, predictive testing has become more accurate and reliable. This has led to a growing demand for these tests among individuals who want to assess their risk of developing certain genetic disorders or diseases.

Moreover, the rising health awareness among the general population has played a crucial role in driving the growth of predictive testing. People are becoming more proactive about their health and are willing to undergo genetic testing to identify potential health risks early on. For instance, in April 2025, Illumina, a global leader in DNA sequencing and array-based technologies, partnered with Tempus, an AI-powered precision medicine company. This collaboration aims to combine Illumina’s genomic insights with Tempus’s AI innovations to enhance predictive genetic testing and accelerate personalized healthcare solutions in the consumer genomics market.

Hereditary Testing Market Insights, By Technology - Next-Generation Sequencing (NGS) Leads the Market owing to Technological Advancements and Declining Costs Fuel Adoption

In terms of technology, Next-Generation Sequencing (NGS) is projected to contribute the highest share of the market with 22.2% in 2025. NGS has revolutionized the field of genetic testing by enabling the rapid and cost-effective sequencing of large amounts of DNA. Technological advancements in NGS platforms have significantly improved the accuracy, speed, and throughput of genetic sequencing, making it a preferred choice for hereditary testing.

One of the key drivers of NGS adoption is the declining costs of sequencing. Over the years, the cost of sequencing a human genome has dropped dramatically, making NGS more accessible and affordable for both research and clinical applications. This cost reduction has been driven by the development of high-throughput sequencing technologies and the increasing competition among NGS service providers.

Hereditary Testing Market Insights, By Application - Oncology Dominates the Application Segment due to Rising Cancer Burden and Advancements in Precision Oncology

In terms of application, oncology is expected to contribute the highest share of the hereditary testing market with 25.2% in 2025. Cancer is one of the leading causes of morbidity and mortality worldwide, and the rising burden of cancer has been a major driver for the growth of hereditary testing in oncology.

Hereditary testing plays a crucial role in cancer risk assessment, early detection, and personalized treatment planning. With the identification of numerous cancer-associated genes, such as BRCA1/2, hereditary testing has become an integral part of cancer management. Individuals with a family history of certain cancers or specific genetic mutations can undergo predictive testing to assess their risk and take proactive measures, such as increased surveillance or preventive surgeries.

Role of Artificial Intelligence (AI) in the Hereditary Testing Market

• Artificial Intelligence (AI) is revolutionizing the global hereditary testing market by enabling faster, more accurate, and personalized genetic analysis. AI enhances predictive analytics capabilities by identifying complex gene-disease associations, accelerating early diagnosis and risk assessments for hereditary conditions. It drives automation in sample processing, data interpretation, and report generation, significantly reducing operational costs and turnaround times. AI-powered tools such as variant prioritization algorithms and machine learning models also support data-driven decision-making, enabling clinicians to make more informed recommendations. Moreover, AI enhances customer experiences through personalized risk assessments and tailored health recommendations, fostering greater patient engagement.
• One notable example is Invitae Corporation, a leading genetics company in the U.S., which leverages AI to improve hereditary disease testing services. Invitae utilizes AI-driven tools such as MOON (a genomic analysis platform) for rapid interpretation of genetic variants, enabling more precise diagnostics and better patient outcomes. The company’s AI integration demonstrates how healthcare providers can use advanced analytics to scale services, improve accuracy, and remain competitive. While AI offers tremendous benefits in this field, it is important to balance its use with ethical considerations, data privacy concerns, and the need for human expertise in final clinical decision-making.

Regional Insights

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North America Hereditary Testing Market Analysis and Trends

In North America, the dominance in the global hereditary testing market with an estimated share of 38.3% in 2025 can be attributed to several factors. The region boasts a well-established healthcare infrastructure, high awareness about genetic disorders, and a favorable regulatory environment.

The presence of leading genetic testing companies, such as Myriad Genetics, Invitae Corporation, and Ambry Genetics, has further strengthened the market ecosystem. These companies have made significant investments in research and development, expanding their test portfolios and improving the accessibility of hereditary testing services.

Moreover, the region's strong intellectual property protection laws have encouraged innovation and helped maintain a competitive edge. For instance, in February 2025, Seonix Bio, a precision genomics company, introduced SightScore, a polygenic risk score (PRS) test for primary open-angle glaucoma in the U.S., Australia, and New Zealand. The saliva-based test identifies individuals at high genetic risk for developing or progressing glaucoma, enabling earlier detection and personalized care.

Asia Pacific Hereditary Testing Market Analysis and Trends

Meanwhile, the Asia Pacific region is expected to exhibit the fastest growth in the global hereditary testing market with a share of 25.2% in 2025. This growth can be attributed to several factors, including the rising awareness about genetic disorders, increasing healthcare expenditure, and the growing middle-class population. Countries like China, Japan, and Australia have made significant strides in developing their healthcare infrastructure and investing in advanced genetic testing technologies.

Moreover, the Asia Pacific region has witnessed a surge in strategic collaborations and partnerships between local and international players, fostering knowledge sharing and expanding market reach. For instance, BGI Genomics, a leading Chinese genetic testing company, collaborated with various international institutions to advance genetic research and testing capabilities. The region's diverse genetic pool and large population base also present immense opportunities for market growth and research.

Global Hereditary Testing Market Outlook for Key Countries

U.S. Hereditary Testing Market Trends

The U.S. market for hereditary testing is driven by a combination of factors, including high healthcare expenditure, advanced healthcare infrastructure, and a supportive regulatory environment. The country is home to several leading genetic testing companies, such as Myriad Genetics and Invitae Corporation, which have played a significant role in expanding the market. These companies have invested heavily in research and development, introducing innovative testing solutions and expanding their test menus.

For instance, in March 2024, BillionToOne, a molecular diagnostics company, launched BabyPeek, a non-invasive prenatal test in the U.S. Using cell-free DNA sequencing from maternal blood, BabyPeek predicts fun, non-medical traits such as the baby’s likely eye color, hair texture, food preferences, and tooth eruption timing.

China Hereditary Testing Market Trends

China's market for hereditary testing is experiencing rapid growth, driven by factors such as the large population base, increasing healthcare expenditure, and rising awareness about genetic disorders. The Chinese government has recognized the importance of genetic testing and has implemented policies to support its growth. The country has also witnessed the emergence of local genetic testing companies, such as BGI Genomics and Berry Genomics, which have made significant contributions to the market.

For instance, in February 2025, China launched its first AI model for rare disease diagnosis, PUMCH-GENESIS, developed by Peking Union Medical College Hospital (PUMCH) and the Institute of Automation, Chinese Academy of Sciences. The AI tool analyses patient-reported symptoms to generate rare disease alerts, potential conditions, and medical recommendations within seconds, aiming to improve early detection and reduce misdiagnosis rates.

U.K. Hereditary Testing Market Trends

The U.K. hereditary testing market is rapidly evolving, driven by rising awareness of genetic disorders, technological advances in next-generation sequencing (NGS), and strong government support through initiatives like Genomics England’s projects. The integration of genomic testing into NHS services is improving access and early diagnosis, while predictive testing remains a key growth area.

For instance, in November 2024, a genetic test developed by Saint Mary’s Hospital (MFT), the University of Manchester, and Genedrive Plc is undergoing trials at 14 National Health Service units across the U.K. The test aims to prevent newborn hearing loss caused by gentamicin, potentially saving USD 5.7 million annually.

Japan Hereditary Testing Market Trends

Japan's market for hereditary testing is characterized by a high level of technological advancement, a well-developed healthcare infrastructure, and a growing awareness about genetic disorders. The country has a strong focus on research and development, with leading companies such as Sysmex and Miraca Holdings investing in advanced genetic testing technologies.

For instance, in January 2025, Advanced Genomics Asia-Pacific (APAC) partnered with Japan’s Cancer Precision Medicine (CPM) to launch GALEAS Bladder in Japan. The non-invasive test, developed by U.K.’s Nonacus Ltd., uses Next-Generation Sequencing (NGS) on urine samples to detect bladder cancer.

Market Players, Key Development, and Competitive Intelligence

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Key Developments

• On May 27, 2025, Hydreight Technologies Inc., a digital health platform offering mobile and telehealth services across all 50 U.S. states, launched a new direct-to-consumer genetic testing and personalized wellness solution via its VSDHOne platform.
• On May 20, 2025, Guardant Health, Inc., a leading precision oncology company, launched the Guardant Hereditary Cancer test, a blood-based germline panel that identifies inherited genetic variants associated with an increased risk of over 12 cancer types, including breast, colorectal, and prostate cancers. The test covers 82 genes, helping healthcare providers guide treatment decisions, assess risks for secondary cancers, and develop personalized care plans.
• In September 2024, Ambry Genetics, a clinical genetic and genomic testing leader, announced an updated hereditary cancer test portfolio at the NSGC Annual Conference. The new test menu aligns with the latest scientific evidence and national guidelines, strengthening Ambry’s 12-year legacy in hereditary cancer testing.
• In April 2024, LetsGetChecked, a global healthcare technology leader, launched a comprehensive hereditary cancer solution. This new offering includes multigene panels, in-house genetic counseling, and an intuitive portal for seamless workflow management. It enables the detection of risk and disease-causing variants across multiple cancer types—including breast, ovarian, gastrointestinal, and brain cancers—empowering patients and providers with personalized healthcare insights.

Top Strategies Followed by Global Hereditary Testing Market Players

• Established players in the global hereditary testing market are focusing on extensive research and development to innovate high-performance products. These companies are investing heavily in R&D to develop advanced testing technologies and expand their product portfolios. For example, Myriad Genetics, a leading player in the market, has invested significantly in developing novel genetic tests for various hereditary disorders.
  • For instance, in March 2024, Exact Sciences Corp., a company in cancer screening and diagnostics, launched the Riskguard hereditary cancer test in the U.S. The test uses a simple blood or saliva sample to detect genetic variants linked to 10 common cancers, including colorectal, breast, and prostate.

• Mid-level players in the global hereditary testing market are focusing on delivering cost-effective solutions to target price-sensitive consumers. These companies are developing quality products that offer value for money, making hereditary testing more accessible to a wider population. Furthermore, collaborations with technology providers and production partners are helping mid-level players boost their capabilities and market presence. These partnerships enable them to access advanced technologies, streamline production processes, and expand their reach.
  • For instance, in February 2024, Foundation Medicine, Inc., a genomics company, announced the launch of FoundationOne Germline and FoundationOne Germline More in the U.S. from February 28, 2025. Developed with Fulgent Genetics, the tests help detect genetic variants linked to hereditary cancers and assess risk for patients and families.

• Small-scale players in the global hereditary testing market are adopting niche specialization strategies to differentiate themselves from larger competitors. They are targeting specific market segments with unique features or innovative products. By focusing on niche areas, small-scale players can effectively cater to the specific needs of their target customers.
  • For instance, in November 2024, ProPhase Labs, Inc., a next-generation biotech, genomics, and diagnostics company, launched DNA Complete, a direct-to-consumer DNA test through its subsidiary DNA Complete, Inc. The test sequences nearly 100% of a customer’s genome, offering detailed health, wellness, and ancestry insights.

Market Report Scope

Hereditary Testing Market Report Coverage

Hereditary Testing Market Dynamics

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Global Hereditary Testing Market Driver - Increasing prevalence of genetic disorders

The growing prevalence of genetic disorders worldwide is a significant driver for the global hereditary testing market. As more people are affected by inherited conditions, the demand for accurate and reliable genetic testing solutions is on the rise. Genetic disorders, such as cystic fibrosis, sickle cell anemia, and Huntington's disease, can have a profound impact on an individual's health and quality of life. Early detection and diagnosis of these conditions through hereditary testing can help individuals and families make informed decisions about their healthcare, family planning, and lifestyle choices.

Moreover, advancements in genetic sequencing technologies and the increasing affordability of genetic tests have made hereditary testing more accessible to a broader population. For instance, in August 2024 a study by the Orphanet Journal of Rare Diseases highlighted the burden of rare genetic disorders in India, based on 22 years of data from a tertiary genetic testing center. The study analyzed 3,294 patients with 305 rare diseases, grouped by organ system. Neuromuscular and neurodevelopmental disorders were most common, with Duchenne muscular dystrophy, trinucleotide repeat disorders, and spinal muscular atrophy leading. Inborn errors of metabolism, especially Gaucher disease, were also prevalent.

Global Hereditary Testing Market Opportunity - Advancements in genetic testing technologies

The global hereditary testing market is poised for significant growth due to the rapid advancements in genetic testing technologies. Innovations in next-generation sequencing (NGS) and microarray technologies have revolutionized the field, enabling faster, more accurate, and cost-effective genetic testing.

Furthermore, the development of more sensitive and specific testing methods has enhanced the detection of rare genetic variants, leading to better patient outcomes. As these technologies continue to evolve, they will drive down the costs of genetic testing, making it more accessible to a wider population. Additionally, the integration of artificial intelligence and machine learning algorithms in genetic data analysis is expected to streamline the interpretation of complex genetic information, further propelling the growth of the hereditary testing market.

For instance, on May 27, 2025, Myriad Genetics, a leader in molecular diagnostic testing and precision medicine, announced that it will present data from seven new research studies at the 2025 American Society of Clinical Oncology (ASCO) Annual Meeting. Highlighting the MONSTAR-SCREEN-3 study, Myriad demonstrates ultra-sensitive pan-cancer detection of molecular residual disease (MRD) using whole-genome sequencing (WGS)-based personalized circulating tumor DNA (ctDNA) panels.

Analyst Opinion (Expert Opinion)

• The global hereditary testing market is poised for robust growth, driven by advancements in next-generation sequencing (NGS), growing awareness of genetic disorders, and increasing regulatory support for personalized medicine. The rising prevalence of cancer and rare genetic conditions, combined with initiatives like the U.S. Genetic Information Nondiscrimination Act (GINA) and the EU’s Horizon Europe programme, have created a conducive environment for market expansion. While opportunities abound in integrating AI-driven data analytics and expanding access through telehealth, challenges such as data privacy concerns, high test costs, and disparities in access to genetic counselling persist, potentially hindering broader adoption in low- and middle-income regions.
• Key conferences such as the American Society of Human Genetics (ASHG) Annual Meeting, the European Human Genetics Conference (EHGC), and the Global Genomics Conference have played pivotal roles in fostering collaboration, showcasing technological breakthroughs, and shaping policies in the sector. Notable industry initiatives include Exact Sciences' Riskguard launch, Myriad Genetics' expanded companion diagnostic partnerships, and Japan’s national genomic medicine strategy. Such developments, coupled with pilot projects like NHS England’s Genomic Medicine Service and the U.S. All of Us Research Program, are reshaping the hereditary testing landscape by driving adoption, accessibility, and personalized care integration.

Market Segmentation

•  Test Type Insights (Revenue, USD Bn, 2020 - 2032)
  • Predictive Testing
  • Diagnostic Testing
  • Carrier Testing
  • Prenatal Testing
  • Newborn Screening
  • Preimplantation Genetic Diagnosis (PGD)
  • Pharmacogenomic Testing
•  Technology Insights (Revenue, USD Bn, 2020 - 2032)
  • Next-Generation Sequencing (NGS)
  • Polymerase Chain Reaction (PCR)
  • Microarray
  • Fluorescence In Situ Hybridization (FISH)
  • Sanger Sequencing
  • Array Comparative Genomic Hybridization (aCGH)
•  Application Insights (Revenue, USD Bn, 2020 - 2032)
  • Oncology
  • Cardiovascular Diseases
  • Neurology
  • Metabolic Disorders
  • Rare Diseases
  • Reproductive Health
  • Others
•  Patient Age Group Insights (Revenue, USD Bn, 2020 - 2032)
  • Pediatric
  • Adult
  • Geriatric
•  End User Insights (Revenue, USD Bn, 2020 - 2032)
  • Hospitals
  • Specialty Clinics
  • Diagnostic Laboratories
  • Research Institutions
  • Home Care Settings
  • Others
• Regional Insights (Revenue, USD Bn, 2020 - 2032)
  • North America
    • U.S.
    • Canada
  • Latin America
    • Brazil
    • Argentina
    • Mexico
    • Rest of Latin America
  • Europe
    • Germany
    • U.K.
    • Spain
    • France
    • Italy
    • Russia
    • Rest of Europe
  • Asia Pacific
    • China
    • India
    • Japan
    • Australia
    • South Korea
    • ASEAN
    • Rest of Asia Pacific
  • Middle East
    • GCC Countries
    • Israel
    • Rest of Middle East
  • Africa
    • South Africa
    • North Africa
    • Central Africa
• Key Players Insights
  • Illumina, Inc.
  • Thermo Fisher Scientific Inc.
  • Myriad Genetics, Inc.
  • Agilent Technologies, Inc.
  • Fulgent Genetics, Inc.
  • Genomic Health, Inc.
  • Invitae Corporation
  • Roche Diagnostics
  • Siemens Healthineers
  • BGI Genomics
  • Quest Diagnostics
  • PerkinElmer, Inc.
  • Eurofins Scientific
  • ArcherDX
  • Color Genomics

Sources

Primary Research Interviews

• Healthcare Providers and Genetic Counselors: Interviews with doctors, genetic counselors, and laboratory directors who perform or interpret hereditary testing.
• Industry Experts: Discussions with experts in genetics, healthcare policy, and molecular biology.
• Patients and Advocacy Groups: Insights from patients who have undergone hereditary testing, as well as groups advocating for genetic health awareness.

 Databases

• S. Bureau of Labor Statistics (BLS)
• S. National Institutes of Health (NIH)
• Global Health Observatory (GHO) Data Repository (WHO)
• Genetics Home Reference (GHR) – NIH
• European Bioinformatics Institute (EBI)
• OECD (Organisation for Economic Co-operation and Development)

Magazines

• Genetic Engineering & Biotechnology News (GEN)
• Genetic Literacy Project (GLP)
• GenomeWeb
• Nature Genetics
• The Scientist
• Scientific American
• Molecular Diagnosis & Therapy
• Clinical Laboratory News

Journals

• The Lancet Oncology
• Genetics in Medicine (ACMG)
• American Journal of Human Genetics
• Journal of Medical Genetics
• Journal of Genetic Counseling
• BMC Medical Genomics

Newspapers

• The New York Times – Health Section
• The Guardian – Science and Health
• The Washington Post – Science and Health
• The Hindu – Science and Technology
• BBC News – Science and Health

Associations

• American College of Medical Genetics and Genomics (ACMG)
• European Society of Human Genetics (ESHG)
• National Society of Genetic Counselors (NSGC)
• Genetic Alliance
• Global Genes – Rare Disease Community
• Association for Molecular Pathology (AMP)
• Personalized Medicine Coalition (PMC)

Public Domain Sources

• ClinicalTrials.gov
• Genetic Testing Registry (GTR)
• Open Science Framework (OSF)
• Global Health Data Exchange (GHDx)
• World Bank Open Data – Health and Genetics

Proprietary Elements

• CMI Data Analytics Tool: Proprietary analytics tool to analyze real-time market trends, consumer behavior, and technology adoption in market
• Proprietary CMI Existing Repository of Information for Last 8 Years