Hereditary Testing Market – By Disease Type, By Technology – Global Forecast, 2025 to 2034

Hereditary Testing Market Size

The global hereditary testing market size was valued at USD 7.6 billion in 2024 and is estimated to grow at 7.7% CAGR from 2025 to 2034. Hereditary testing, also known as genetic testing, involves analyzing an individual's DNA to identify changes or mutations in genes, chromosomes, or proteins that are inherited from parents.
 

These tests are used to determine the likelihood of developing specific genetic disorders, confirm a suspected genetic condition, or understand the risk of passing a genetic disorder to offspring. The market is being propelled by a confluence of factors. The rising prevalence of genetic disorders and the growing awareness of their implications have heightened the demand for hereditary testing. For instance, according to the World Health Organization, genetic disorders and congenital abnormalities occur in approximately 2-5% of all live births. As individuals become more informed about their genetic predispositions, the need for proactive health measures has surged.
 

Additionally, advancements in genomic technologies have made testing more accessible and affordable, further fueling market growth. The integration of hereditary testing into routine healthcare, coupled with supportive government initiatives, underscores its significance in modern medicine. Expanding applications of hereditary testing, from prenatal screening to cancer risk assessment, have broadened its appeal. The increasing emphasis on personalized medicine, where treatments are tailored based on genetic profiles, has also bolstered the market. Furthermore, the rise of direct-to-consumer genetic testing has democratized access, allowing individuals to take charge of their health decisions.
 

As research continues to unveil the complexities of genetics, the market is poised for sustained growth, driven by both technological advancements and a deeper understanding of genetic implications.
 

Hereditary Testing Market Trends

• The market has experienced significant growth in recent years, driven by increased awareness of genetic disorders and advancements in genomic technologies. As more individuals seek insights into their genetic predispositions, the demand for hereditary testing services has surged across various healthcare settings.
   
• Technologies such as next-generation sequencing (NGS) have revolutionized hereditary testing, enabling more comprehensive and cost-effective genetic analyses. This innovation has led to the development of multi-gene panel tests that screen for multiple hereditary conditions simultaneously, enhancing diagnostic efficiency and patient care.
   
• The popularity of direct-to-consumer (DTC) genetic testing has risen, allowing individuals to access genetic information without necessarily involving healthcare providers. However, this trend has sparked debates over result interpretation and the critical need for genetic counseling to ensure proper understanding of test outcomes.
   
• Precision medicine initiatives have further fueled the market, as genetic information becomes increasingly vital in tailoring treatment plans for various diseases, particularly in oncology. This has driven the integration of genetic testing into standard medical practices.
   
• The COVID-19 pandemic accelerated the adoption of telemedicine and remote genetic counseling services, making hereditary testing more accessible to a broader population. Additionally, this shift spurred the development of at-home sample collection kits for genetic testing.
   
• Artificial intelligence and machine learning algorithms are being increasingly utilized to analyze vast amounts of genetic data, improving the accuracy and speed of variant interpretation in hereditary testing. This trend is expected to grow as these technologies evolve and advance.
   
• Lastly, there is a heightened focus on expanding hereditary testing to diverse populations to address historical biases in genetic databases. This initiative aims to improve the accuracy of genetic risk assessments across different ethnic groups and enhance the overall utility of hereditary testing.
   

Hereditary Testing Market Analysis

Based on disease type, the market is segmented into hereditary cancer testing and hereditary non-cancer testing. The hereditary non-cancer testing segment dominated the market with the largest revenue of USD 5.5 billion in 2024 and is expected to grow at a significant CAGR over the forecast period.
 

• Growing awareness about genetic disorders and the importance of early detection is driving the demand for hereditary non-cancer testing. This increasing understanding among healthcare providers and patients is leading to more proactive genetic screening and counseling.
   
• Additionally, advancements in genetic testing technologies, such as next-generation sequencing, are enhancing the accuracy and accessibility of hereditary non-cancer tests. These technological innovations are making tests more affordable and widely available, further contributing to market growth.
   
• Furthermore, the rising prevalence of inherited disorders and the growing adoption of personalized medicine are fueling the expansion of this segment in the genetic testing market. For example, according to the World Health Organization, nearly 5% of the global population carries trait genes for hemoglobin disorders, primarily for thalassemia and sickle-cell disease. As healthcare increasingly adopts tailored treatment approaches, hereditary non-cancer testing is becoming an essential component of patient care and disease prevention strategies.

Based on technology, the hereditary testing market is segmented into cytogenetic, biochemical, and molecular testing. The molecular testing segment of the market, which held a 54.1% share in 2024, is poised for substantial growth in the coming years.
 

• The development of multiplex PCR assays has greatly enhanced the efficiency and accuracy of hereditary testing. These assays enable the simultaneous detection of multiple genetic variants in a single test, thereby reducing the time and costs associated with genetic screening.
   
• Additionally, the integration of artificial intelligence and machine learning algorithms into molecular testing platforms has improved data interpretation and variant classification. These technological advancements allow for more precise identification of disease-causing mutations and variants of uncertain significance in hereditary testing.
   
• Moreover, the growing adoption of non-invasive prenatal testing (NIPT) through cell-free DNA analysis has broadened the application of molecular testing in prenatal screening. This trend has fueled a rising demand for molecular diagnostic technologies in reproductive genetics and hereditary disease detection.
   
• Consequently, the aforementioned factors are expected to drive growth in the market in the coming years.

The U.S. dominated the North American hereditary testing market with revenue of USD 2.2 billion in 2024 and is projected to witness substantial growth over the forecast period.
 

• The increasing prevalence of genetic disorders and hereditary cancers in the U.S. is a significant driver for the market. According to the Centers for Disease Control and Prevention (CDC), hereditary cancers account for approximately 5-10% of all cancer cases in the country. This growing awareness has led to a surge in demand for genetic testing, particularly among individuals with a family history of cancer or other genetic conditions.
   
• Another key driver is the expanding coverage and reimbursement for genetic testing by U.S. health insurance providers. In recent years, major insurers have broadened their policies to include coverage for various hereditary tests, making them more accessible to a wider population. For instance, the Centers for Medicare & Medicaid Services (CMS) has expanded coverage for next-generation sequencing tests for patients with advanced cancer, further fueling the growth of the market in the U.S.
   

The hereditary testing market in the UK is expected to experience significant growth from 2025 to 2034.
 

• The UK government's commitment to genomic medicine, as evidenced by initiatives like the 100,000 Genomes Project and the subsequent NHS Genomic Medicine Service, is a major driver for the market. These programs aim to integrate genomic testing into routine healthcare, making it more accessible to patients across the UK. This national focus on genomics has not only increased awareness about hereditary testing but has also improved the infrastructure and expertise needed to support widespread genetic testing services.
   
• Moreover, the increasing prevalence of genetic disorders in the UK is another significant driver. According to the National Health Service (NHS), approximately 1 in 25 children born in the UK are affected by a genetic disorder. This high incidence rate has led to growing demand for genetic testing services, particularly in prenatal and newborn screening programs across the country, driving the market's growth.
   

The Asia Pacific hereditary testing market is anticipated to witness lucrative growth between 2025 and 2034.
 

• The Asia Pacific market is experiencing significant growth, driven by the increasing prevalence of genetic disorders in countries like China and India. These nations, with their large populations and rising incidence of hereditary conditions, are fueling the demand for genetic testing services.
   
• Additionally, the growing awareness among healthcare professionals and patients about the benefits of early detection and personalized treatment plans based on genetic information is contributing to market expansion in the region.
   
• Another key driver in the Asia Pacific market is the rapid advancement of healthcare infrastructure and technology in countries such as Japan and South Korea. These nations are investing heavily in genomic research and precision medicine initiatives, leading to the development of more sophisticated and accessible genetic testing services.
   

The hereditary testing market in Saudi Arabia is expected to experience significant growth from 2025 to 2034.
 

• The growing awareness of genetic disorders within Saudi Arabia's population is a significant driver for the market. The country has a high prevalence of consanguineous marriages, which increases the risk of genetic disorders. This cultural practice, combined with public health initiatives aimed at educating the population about genetic risks, has led to increased demand for hereditary testing services, particularly in prenatal and premarital screenings.
   
• Another key driver is the Saudi government's substantial investment in healthcare infrastructure and genomic research. The Saudi Human Genome Program, launched as part of Saudi Vision 2030, aims to sequence 100,000 human genomes to identify genetic variations specific to the Saudi population. This initiative has not only improved the accessibility of genetic testing services but also enhanced the accuracy of hereditary disease diagnosis, further stimulating market growth.
   

Hereditary Testing Market Share

The market is highly competitive, with key players such as Myriad Genetics and Illumina leading the field. Companies compete on factors like test accuracy, turnaround time, and pricing. The market is experiencing consolidation as larger firms acquire specialized genetic testing companies to expand their capabilities. Technological advancements in next-generation sequencing and bioinformatics are crucial for gaining a competitive edge. Additionally, firms are focusing on expanding their geographical presence, particularly in emerging markets where the adoption of genetic testing is growing.
 

Navigating complex regulatory environments across regions is becoming increasingly important for maintaining market leadership. Furthermore, strategic partnerships with healthcare providers and academic institutions are common tactics to enhance market presence and credibility. As the market continues to evolve, companies that can offer comprehensive, cost-effective testing solutions while adapting to regulatory changes are likely to maintain a strong competitive position in this dynamic industry.
 

Hereditary Testing Market Companies

Some of the eminent market participants operating in the hereditary testing industry include:

• Agilent Technologies
• Centogene
• CooperSurgical
• F. Hoffmann-La Roche
• Fulgent Genetics
• Illumina
• Invitae Corporation
• Laboratory Corporation of America Holdings
• MedGenome
• Myriad Genetics
• Natera
• Quest Diagnostics
• Sophia Genetics
• Thermo Fisher Scientific
• Twist Bioscience
   

Hereditary Testing Industry News:

• In November 2023, Myriad Genetics, Inc. introduced its new MyRisk Hereditary Cancer Test with RiskScore. This advanced test combines genetic testing for hereditary cancer risk with a polygenic risk score for breast cancer. The integrated approach allows for a more accurate assessment of a patient's overall cancer risk, particularly for individuals of diverse ancestries.
   

The hereditary testing market research report includes an in-depth coverage of the industry with estimates and forecast in terms of revenue in USD Million from 2021 – 2034 for the following segments:

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Market, By Disease Type

• Hereditary cancer testing
  • Lung cancer
  • Breast cancer
  • Colorectal cancer
  • Cervical cancer
  • Ovarian cancer
  • Prostate cancer
  • Stomach/gastric cancer
  • Melanoma
  • Sarcoma
  • Uterine cancer
  • Pancreatic cancer
  • Other hereditary cancers
• Hereditary non-cancer testing
  • Genetic tests
    • Cardiac diseases
    • Rare diseases
    • Other diseases
  • Preimplantation genetic diagnosis & screening
  • Non-invasive prenatal testing (NIPT) & carrier screening tests
  • Newborn genetic screening 

Market, By Technology

• Cytogenetic
• Biochemical
• Molecular testing

The above information is provided for the following regions and countries:

• North America 
  • U.S.
  • Canada
• Europe 
  • Germany
  • UK
  • France
  • Spain
  • Italy
  • Netherlands
• Asia Pacific 
  • China
  • Japan
  • India
  • Australia
  • South Korea
• Latin America 
  • Brazil
  • Mexico
  • Argentina
• Middle East and Africa 
  • South Africa
  • Saudi Arabia
  • UAE