Genetic Testing Market

The global Genetic Testing market size was USD 18.24 billion in 2023, and is calculated at USD 22.60 Billion in 2024. The market is projected to reach USD 65.91 Billion by 2034, and register a revenue 11.3% over the forecast period (2025-2034).

Premium Insights:

​Global Genetic Testing market growth is driven by rising focus on detection and targeted treatment options for diseases such as cancer, cardiovascular conditions, and rare disorders. Increasing use of Genetic Testing is also driven by growing awareness of personalized medicine, advancements in genomics, increasing prevalence of genetic disorders, and integration of advanced technologies such as Next-Generation Sequencing (NGS), Artificial Intelligence (AI), and Machine Learning (ML).

Also, patients and healthcare personnel are realizing the advantages and benefits of early detection and targeted treatment options for various genetic or hereditary diseases, conditions, and rare disorders and this trend has been gaining steady traction worldwide. In addition, the expanding applications of Genetic Testing in pharmacogenomics and preventive healthcare are further supporting adoption, as an increasing number of individuals prioritize proactive health management and precision treatment strategies. Use of ancestry testing and paternity testing, and advancements in testing techniques such as non-invasive prenatal testing (NIPT) and cell-free fetal DNA testing are also driving market growth.

Genetic Testing has evolved into a vital tool in modern medicine and is used for identify genetic variants linked to specific medical conditions. Widely used technologies include Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), chromosomal microarray, Fluorescence In-Situ Hybridization (FISH), Sanger sequencing, and others. Widely used testing types include diagnostic testing, predictive and pre-symptomatic testing, carrier testing, prenatal and newborn screening, and pharmacogenomic testing. Diagnostic testing confirms a suspected genetic condition, while predictive and pre-symptomatic testing assess the risk of developing a condition later in life. Carrier testing identifies individuals who carry a gene variant for a genetic disorder, and prenatal and newborn screening detect conditions early in life. Pharmacogenomic testing on the other hand, helps in determining the right medication and dosage for individuals based on their genetic makeup.

Genetic Testing is playing critical roles in oncology, rare diseases, neurological disorders, cardiovascular diseases, genetic disease risk assessment, ancestry testing, paternity testing, and other hereditary-linked diseases and conditions. The benefits of Genetic Testing are vast, ranging from early diagnosis and prevention of diseases to personalized treatment plans. This approach enables patients and healthcare providers to make informed decisions, enhances disease management, and promotes early intervention, particularly for hereditary conditions such as cancer, cystic fibrosis, and heart disease. Genetic Testing also plays a role in reducing healthcare costs by enabling targeted therapies that are more effective and reducing unnecessary treatments. Genetic Testing is also playing a major role in understanding more about genetic disorders such as Down syndrome, Edwards syndrome, and Patau syndrome.

Next-generation sequencing is increasingly being used in Genetic Testing compared to use of traditional DNA sequencing methods. NGS allows for high-throughput sequencing of entire genomes, exomes, or targeted gene panels, making it a preferred choice for a variety of applications, including cancer diagnostics, rare genetic disorders, and pharmacogenomics. A major advantage of NGS is ability to process large volumes of data quickly and cost-effectively. This technology enables simultaneous sequencing of multiple genes, which is especially beneficial for diagnosing complex conditions that may involve multiple genetic factors. Studies have shown that NGS can identify variants that standard Sanger sequencing might miss, enhancing diagnostic accuracy.

Most recent advancements in Genetic Testing have been driven by next-generation sequencing technologies, which have not only made testing faster, but also more affordable, and accurate. The development of Whole-Genome Sequencing (WGS) and Whole-Exome Sequencing (WES) has broadened the scope of detectable genetic variations, allowing for deeper insights into rare diseases and complex conditions. Emerging applications of NGS include gene editing, precision medicine, and personalized cancer treatments.

Trends in this market include increasing consumer demand for at-home Genetic Testing kits, growing adoption of Genetic Testing in preventive healthcare, and expansion of Direct-To-Consumer (DTC) Genetic Testing services. In addition, regulatory developments are shaping the landscape, particularly regarding data privacy and the ethical implications of genetic data use. Furthermore, technological advancements, increasing healthcare awareness, and rising demand for personalized medicine are factors positioning Genetic Testing as a key component in the future of healthcare.

Top Genetic Testing Market Drivers and Trends:

• Rising Prevalence of Genetic Disorders: Prevalence of genetic disorders and chronic diseases such as cancer, cardiovascular conditions, and rare hereditary diseases has been rising. This is leading to rising demand for early detection and targeted therapies in various developed countries. Genetic Testing enables precise diagnosis, improving patient outcomes by identifying the root cause of these conditions. Also, advancements in genomic technologies, particularly next-generation sequencing, have made Genetic Testing more affordable, accessible, and accurate, allowing for broader applications in clinical settings and driving its adoption across diverse healthcare sectors.
• Growing Personalized Medicine Trend: Steady shift toward personalized medicine is having a significant impact on demand for Genetic Testing to enable development of customized treatment plans based on individual genetic profiles, particularly in areas like oncology, pharmacogenomics, and reproductive health. Patients and healthcare providers are increasingly relying on Genetic Testing to guide decisions on drug therapies, preventive measures, and disease management strategies.
• Traction of Direct-To-Consumer Genetic Testing Services: Increasing availability of Direct-To-Consumer (DTC) Genetic Testing services has expanded access to genetic information, allowing individuals to proactively manage their health by identifying predispositions to certain conditions and modifying lifestyle choices accordingly. This offers convenience and has been gaining appeal among an increasing audience, and is expected to continue to support growth of the Genetic Testing market. Increasing use of ancestry testing and paternity testing, and advancements in testing techniques such as non-invasive prenatal testing (NIPT) and cell-free fetal DNA testing are also supporting growth of the market.
• Growing Preventive Healthcare Trend: Preventive healthcare practices has been gaining steady popularity, with Genetic Testing playing a central role in identifying potential health risks before symptoms appear. This trend is being supported by increased consumer awareness, greater healthcare spending, and a focus on wellness and longevity. Technological advancements such as Artificial Intelligence (AI) and Machine Learning (ML) are also enhancing the efficiency and accuracy of Genetic Testing, enabling faster processing and more comprehensive analysis of genetic data.
• Advancements in Testing Kits: Genetic Testing is currently being used across various fields including prenatal screening, newborn testing, oncology, and pharmacogenomics. An increasing number of companies in the market are focusing on expanding their product offerings, developing new testing kits, and investing significantly in Research and Development (R&D) to address emerging diseases and improve testing accuracy. Also, positive trends like rising adoption of precision medicine, growing popularity of DTC services, and ongoing technological innovations are expected to continue to drive growth of the global Genetic Testing market.

Genetic Testing Market Restraining Factor Insights

• High Costs of Testing Poses Major Barrier: High costs associated with advanced Genetic Testing technologies, such as whole-genome sequencing and next-generation sequencing (NGS), pose a significant barrier. This can be especially limiting in regions with limited healthcare funding, making testing unaffordable for many patients. Lack of favorable reimbursement and cover also poses challenges thereby limiting wider access and reducing market potential.
• Ethical and Privacy Concerns: Ethical and privacy concerns associated with genetic data are having a moderate impact on growth of the market. Genetic Testing involves gathering of sensitive personal and medical information, and this can raise concerns regarding privacy and identity, as well as poses potential for risk of unauthorized access or breach and misuse. In addition, apprehension regarding data misuse, discrimination by employers or insurers, and the potential for breaches in patient confidentiality can cause hesitancy among patients and also raises regulatory challenges for companies.
• Lack of Comprehensive Insurance Coverage: Lack of comprehensive insurance coverage for many genetic tests reduces affordability. Although some tests are covered by health insurance, many specialized or preventive genetic tests are excluded, forcing patients to pay out of pocket. This limits adoption, particularly for those in lower-income demographics.
• Complexity and Limitations of Genetic Data Interpretation: Complexity and limitations of genetic data interpretation pose major challenges. While testing can reveal genetic mutations, interpreting these results accurately, particularly for rare or unknown variants, is challenging. Lack of standardized guidelines for Genetic Testing interpretation can lead to misdiagnosis or inconclusive results, undermining the trust in and reliability of the tests.
• Regulatory Hurdles: Evolving legislation around Genetic Testing and data protection can create regulatory challenges and delay time to market. Companies face significant challenges in navigating the varying regulatory frameworks across different regions, leading to delays in product approval and market entry. Also, legal restrictions on direct-to-consumer testing in some countries limit revenue streams from that segment.

Genetic Testing Market Opportunities

• Expanding Direct-To-Consumer Services: Companies can create affordable, user-friendly Genetic Testing kits for consumers, enabling individuals to access genetic insights from home. As awareness of personalized health increases, DTC testing offers growth potential, especially with strategic marketing and partnerships with healthcare providers or retail platforms to boost accessibility.
• Focus on Precision Medicine Needs: Investing in precision medicine and pharmacogenomics can unlock lucrative opportunities. By developing genetic tests that guide personalized treatments, particularly in areas like oncology, cardiovascular diseases, and rare disorders, can enable companies to differentiate their product offerings. Collaborations with pharmaceutical firms for companion diagnostic and tests that help select the best treatment based on a patient’s genetics can enhance value and drive demand, particularly as healthcare systems shift toward outcome-based models.
• Global Market Expansion: Expansion through mergers, acquisitions, and strategic partnerships allows for penetration into emerging markets where healthcare infrastructure is rapidly developing. This could be particularly beneficial in regions like Asia Pacific and Latin America, where demand for Genetic Testing is rising due to increasing healthcare spending. Mergers and acquisitions can help companies diversify their portfolios, enhance research and development capabilities, and gain an edge over competition.

Genetic Testing Market Segmentation:

By Test Type:

• Diagnostic Testing
• Predictive and Presymptomatic Testing
• Carrier Testing
• Prenatal and Newborn Screening
• Pharmacogenomic Testing
• Other

By Technology:

• Next-Generation Sequencing (NGS)
• Polymerase Chain Reaction (PCR)
• Chromosomal Microarray
• Fluorescence In Situ Hybridization (FISH)
• Sanger Sequencing

By Application:

• Oncology
• Rare Diseases
• Neurological Disorders
• Cardiovascular Diseases
• Genetic Disease Risk Assessment
• Ancestry Testing
• Paternity Testing
• Other

By End-User:

• Hospitals and Clinics
• Diagnostic Laboratories
• Research Institutes
• Direct-to-Consumer (DTC) Testing Services
• Forensic Laboratories
• Other

Segment Insights:

By Test Type:

The diagnostic testing segment is expected to account for the largest revenue share among the test type segments in the Genetic Testing market over the forecast period. This can be attributed to increasing prevalence of genetic disorders and chronic diseases such as cancer, cardiovascular diseases, and metabolic conditions and rising need for testing to aid in accurate diagnosis. Diagnostic tests are critical in confirming genetic conditions and guiding treatment plans, particularly for cancer diagnosis and personalized medicine. Rising awareness of early disease detection, coupled with the expansion of precision medicine, is further expected to drive demand for diagnostic testing. Also, diagnostic testing is widely used in clinical settings, where healthcare providers rely on genetic information to make informed decisions, and adoption across various medical specialties is expected to increase further.

By Technology:

The Next-Generation Sequencing (NGS) segment among the technology segments is expected to account for largest revenue share over the forecast period. Factors such as ability to analyze entire genomes quickly, accurately, and cost-effectively and NGS enabling high-throughput Genetic Testing, allowing for comprehensive analysis of multiple genes simultaneously are supporting demand and use. This testing approach is also widely being adopted in clinical diagnostics, particularly in oncology for identifying cancer-causing mutations, and in rare disease research. As the cost of NGS continues to decrease, adoption in both research and clinical applications is expected to rise. Moreover, increasing use of NGS in personalized medicine and pharmacogenomics is expected to contributes to robust revenue growth of this segment over the forecast period.

By Application:

The oncology segment is expected to lead in terms of revenue share among the application segments over the forecast period. Genetic Testing in oncology is critical for diagnosing hereditary cancers, identifying mutations, and developing targeted therapies. With the growing global cancer burden, Genetic Testing is increasingly integrated into cancer care, enabling early detection, treatment selection, and monitoring. Oncology applications are at the forefront of precision medicine, with the demand for companion diagnostics and gene therapies rising significantly. These factors along with steady and rising use of Genetic Testing to tailor chemotherapy, immunotherapy, and other cancer treatments are expected to continue to drive revenue of this segment.

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By End-User:

The hospitals and clinics segment is expected to account for largest share among the end-user segments in the global Genetic Testing market. Majority of diagnostic and screening tests are performed in hospitals and clinics, making these settings primary points for Genetic Testing adoption. Also, integration of Genetic Testing into routine care, especially for disease prevention and personalized treatment, increases the reliance on these facilities. Moreover, increasing partnerships between hospitals and diagnostic labs to offer advanced Genetic Testing services is a factor expected to further drive revenue growth of this segment.

Regions and Countries

North America

• United States
• Canada
• Mexico

Europe

• Germany
• United Kingdom
• France
• Italy
• Spain
• Rest of Europe

Asia Pacific

• China
• Japan
• India

Rest of Asia Pacific

• Latin America
• Brazil
• Argentina

Rest of Latin America

• Middle East & Africa
• Saudi Arabia
• South Africa
• United Arab Emirates
• Israel
• Rest of MEA

Genetic Testing Market Regional Landscape:

North America leads as the dominant regional market with largest revenue share in the global Genetic Testing market, and accounted for over 45% share in 2023. The US accounts for majority revenue share contribution to the market in the region, driven by key factors such as high healthcare expenditure, advanced healthcare infrastructure, and widespread adoption of personalized medicine in the country. Also, government initiatives supporting genetic research and favorable reimbursement policies further support market growth.

Growth of the Europe Genetic Testing market is driven by major revenue share contribution from Germany and the UK. Factors such as increased awareness of genetic disorders, robust healthcare system, established comprehensive regulatory frameworks for Genetic Testing, and expanding research activities in genomics in these countries in Europe are driving market growth. In addition, adoption of new and advanced medical technologies such as next-generation sequencing and traction of precision medicine in countries in the region are contributing to market growth.

The Asia Pacific Genetic Testing market is expected to register robust growth rate of 12.8% over the forecast period, with China and Japan emerging as major markets for Genetic Testing. Rapid development of healthcare infrastructure, growing investment in genomics, and rising demand for personalized medicine are key factors driving growth of the market in the region. Expansion of Direct-To-Consumer (DTC) Genetic Testing services and government support for healthcare innovation are also factors expected to support growth of the Asia Pacific Genetic Testing market.

In Latin America, Brazil leads in Genetic Testing, driven by increasing focus on genetic research and diagnostic testing for hereditary conditions. Similarly, in Middle East and Africa, South Africa is showing growth due to rising healthcare spending and advancements in medical technologies.

Genetic Testing Market Competitive Landscape:

Company List:

• Abbott Laboratories
• Danaher Corporation (Cepheid Inc.)
• Illumina Inc.
• BioRad Laboratories Inc.
• F. Hoffmann-La Roche Ltd
• 23andMe Inc.
• Myriad Genetics Inc.
• DiaSorin S.p.A. (Luminex Corporation)
• PerkinElmer Inc.
• Quest Diagnostics Incorporated
• Eurofins Scientific
• Qiagen N.V.
• Thermo Fisher Scientific
• Invitae Corporation
• Agilent Technologies

Competitive Landscape:

The competitive landscape of the global Genetic Testing market is highly dynamic, with a number of companies competing and focusing on innovation, strategic partnerships, and market expansion to maintain leadership positions. Companies such as 23andMe, Illumina, Myriad Genetics, and Thermo Fisher Scientific hold leading positions in the global Genetic Testing market with strong research and development capabilities and extensive product portfolios. Major companies are investing substantially in next-generation technologies and sequencing, and integrating artificial intelligence to enhance speed, accuracy, and affordability of Genetic Testing.

Another major strategy being adopted is product diversification, with an increasing number of leading companies focused on development of new and advanced testing kits, targeting various applications such as oncology, reproductive health, and pharmacogenomics. This includes development of multi-gene panels and whole-genome sequencing solutions to cater to growing demand for comprehensive genetic insights.

Strategic collaborations and partnerships are another common approach, as companies team up with pharmaceutical firms, research institutions, and healthcare providers to integrate Genetic Testing into broader clinical care pathways. These partnerships help enhance market reach and accelerate the development of companion diagnostics for personalized treatments.

In addition, mergers and acquisitions are shaping the competitive landscape, allowing companies to expand their consumer base, diversify offerings, and gain access to emerging markets. Many players are also expanding their direct-to-consumer services to leverage on rising interest in personal health and wellness management.

Recent Developments

• October 9, 2024: Illumina, Inc., which is a global leader in DNA sequencing and array-based technologies, announced launch of its MiSeq i100 Series of sequencing systems. The new system comprising two new benchtop instruments, MiSeq i100 and MiSeq i100 Plus Systems, offers unparalleled benchtop speed and simplicity to advance next-generation sequencing for laboratories. The system promises to offer customers capability to unlock powerful insights through an affordable, comprehensive solution that is simple to understand and use, even for those with limited NGS expertise.
• February 7, 2024: Sysmex Corporation and Hitachi High-Tech Corporation entered into collaboration for development of Genetic Testing systems using Capillary Electrophoresis sequencers. In August 2023, both companies had signed a Feasibility Study (FS) agreement and had been conducting joint research focused on Genetic Testing systems. This collaboration is in line with objectives of Sysmex and Hitachi High-Tech to produce Genetic Testing systems that are more efficient and cost-effective, which will facilitate wider clinical application of personalized Genetic Testing for various diseases.
• September 29, 2023: The U.S. Food and Drug Administration (FDA) granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, which is an in-vitro diagnostic test designed to help with detection of hundreds of genetic variants associated with an elevated risk of developing certain cancers. The test, which is the first of its kind to be granted FDA marketing authorization, can also help identify potentially cancer-associated hereditary variants in individuals with already-diagnosed cancer, and evaluates DNA extracted from blood sample to identify variants in 47 genes known to be associated with an elevated risk of developing certain types of cancer.

Frequently Asked Questions:

Q: What is the global Genetic Testing market size in 2024 and what is the projection for 2034?

A: The global Genetic Testing market size was calculated at USD 22.60 billion 2024 and expected to reach USD 65.91 billion in 2034

Which regional market accounted for largest revenue share in 2023, and what is the expected trend over the forecast period?

A: North America accounted for largest revenue share in 2023, and is also expected to continue to maintain dominance over the forecast period.

Q: Which are the major companies are included in the global Genetic Testing market report?

A: Major companies in the market report are Abbott Laboratories, Danaher Corporation (Cepheid Inc.), Illumina Inc., BioRad Laboratories Inc., F. Hoffmann-La Roche Ltd., 23andMe Inc., Myriad Genetics Inc., DiaSorin S.p.A. (Luminex Corporation), PerkinElmer Inc., Quest Diagnostics Incorporated, Eurofins Scientific, Qiagen N.V., Thermo Fisher Scientific, Invitae Corporation, Agilent Technologies

Q: What is the projected revenue CAGR of the global Genetic Testing market over the forecast period?

A: The global Genetic Testing market is expected to register a CAGR of 11.3% between 2025 and 2034.

Q: What are some key factors driving revenue growth of the Genetic Testing market?

A: Some key factors driving market revenue growth are rising focus on detection and targeted treatment options for diseases such as cancer, cardiovascular conditions, and rare disorders. Increasing use of Genetic Testing is also driven by growing awareness of personalized medicine, advancements in genomics, and the increasing prevalence of genetic disorders.