Genetic Testing Market Size to Reach USD 65.91 Bn by 2034

Vantage Market Research releases its latest comprehensive report on the ‘Genetic Testing Market’ with a forecast period of 2025-2034. In 2023, the Global Genetic Testing Market size was USD 18.24 billion, and is calculated at USD 22.60 billion in 2024. The market is projected to reach USD 65.91 billion in 2034, and register a revenue CAGR of 11.3% over the forecast period (2025-2034).

Market Overview:

Global genetic testing market growth revenue growth rate is expected to remain 11.3% between 2025 and 2034, and this robust rate can be attributed to increasing prevalence of chronic diseases, neurological disorders, rare diseases and disorders, cancer, and cardiovascular conditions and rising focus on use of genetic testing for detection, diagnosis, and development of targeted treatment options. Other key factors are rising popularity 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) into Research and Development (R&D) and diagnostics and testing. 

Awareness regarding the various advantages and benefits of early detection and diagnosis of diseases and genetic conditions is rising among patients and healthcare personnel, and focus has been increasing on development of targeted treatment options for various genetic or hereditary diseases, conditions, and rare disorders. Also, genetic testing is expanding in pharmacogenomics and preventive healthcare, drive by increasing number of individuals prioritizes proactive health management and precision treatment strategies. Ancestry testing and paternity testing is also being widely used for various medical- and legal-related end-uses, as well as in forensic sciences, among other fields. Moreover, advancements in testing techniques such as non-invasive prenatal testing (NIPT) and cell-free fetal DNA testing are also driving market growth.

Genetic testing includes technologies such as 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 expected to continue to play a crucial role 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 is also playing a major role in understanding more about genetic disorders such as Down syndrome, Edwards syndrome, and Patau syndrome, and helps to reduce healthcare costs by enabling targeted therapies that are more effective and reducing unnecessary treatments.

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. 

Some Key Takeaways:

• 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 Asia Pacific genetic testing market is expected to register fastest revenue growth rate, with  China and Japan emerging as major markets for genetic testing.
• Growth of the Europe genetic testing market is driven by major revenue share contribution from Germany and the UK.
• In Latin America, Brazil leads in genetic testing, driven by increasing focus on genetic research and diagnostic testing for hereditary conditions. 
• 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. 
• The Next-Generation Sequencing (NGS) segment among the technology segments is expected to account for largest revenue share over the forecast period. 
• The oncology segment is expected to lead in terms of revenue share among the application segments over the forecast period.
• The hospitals and clinics segment is expected to account for largest share among the end-user segments in the global genetic testing market.
• 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.   

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

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. 

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

Regional Segmentation: 

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