Genetic Testing Market – By Products & Services, Test Type, Application, Techniques, End-use – Global Forecast, 2024 ­ 2032

Genetic Testing Market Size

The global genetic testing market size was valued at USD 18.6 billion in 2023 growing at a CAGR of 12.3% from 2024 and 2032. The high market growth can be attributed to advances in genomics, such as high-throughput sequencing technologies and improved bioinformatics tools, which have made genetic testing more accurate, efficient, and affordable.
 

Additionally, the integration of genetic testing with digital health platforms and electronic health records has made genetic information more accessible and useful. For example, in July 2023, Quest Diagnostics launched its first consumer-initiated genetic test on questhealth.com (Genetic Insights), delivering personalized, actionable health risk insights. This helps individuals understand their potential risk of developing certain inheritable health conditions, with advanced technology and end-to-end support, including personalized health reports and access to genetic counselling. The availability of such products and services, coupled with growing research funding aimed at supporting and catalyzing technological development, is fostering the potential of genetic testing across the genomics sector.
 

Genetic testing refers to the products and services used to perform tests that identify variations in genetic material, chromosomes, or proteins. Genetic testing can confirm or rule out a suspected genetic disorder or help determine an individual’s probability of developing or passing on a genetic condition. Test results can be interpreted with the help of specialized software and its associated services.
 

Genetic Testing Market Trends

The significance of genetic testing is increasing with the development of innovations and new technologies. The availability of efficient and highly sensitive DNA sequencing methods for prenatal genetic testing offers new approaches for initial screening during pregnancy. These methods allow the detection of small amounts of fetal DNA that naturally circulate in the mother's blood during pregnancy.
 

• Genetic testing provides pregnant women with the benefit of a new type of prenatal test that eliminates the risk of miscarriage. This test involves a simple blood draw from the pregnant woman and can be performed at a very early stage of pregnancy. It is commonly known as non-invasive prenatal testing (NIPT) or cell-free fetal DNA testing. The global adoption of NIPT is rising significantly, with several million pregnant women undergoing this test each year.
   
• Furthermore, the development of next generation sequencing (NGS), a rapidly evolving technology that enables the sequencing of entire genomes or specific parts of genomes, allows for rapid extraction of genetic information from biological materials. This advancement is expected to drive the adoption of genetic tests and accelerate the growth of the market in the future.
   

Genetic Testing Market Analysis

Based on the products & services, the market is classified into kits & reagents, and software & services. The kits & reagents segment dominated the market with revenue of USD 12.1 billion in 2023.
 

• Next generation sequencing (NGS) kits provide a high-throughput method for sequencing entire genomes or specific regions. These kits include reagents for library preparation, sequencing, and data analysis, enabling comprehensive genetic analysis for both research and clinical diagnostics. For example, Illumina’s TruSight Oncology 500 kit allows for comprehensive profiling of cancer-related genes. It includes reagents for library preparation and sequencing, enabling clinicians to identify mutations and tailor cancer treatments to individual patients.
   
• The presence of several companies offering various types of kits and reagents reflects the growing adoption of genetic testing across multiple applications, thereby driving segmental growth.
   

Based on the test type, the genetic testing market is classified into predictive testing, carrier testing, prenatal & newborn testing, diagnostic testing, pharmacogenomics testing, nutrigenomics, and other test types. The prenatal and newborn testing segment dominated the market with market share of 39.6% in 2023.
 

• The dominance of prenatal and newborn screening is driven by the development of advanced testing kits and products, such as non-invasive prenatal testing (NIPT) or cell-free fetal DNA testing.
   
• Additionally, many developed countries have mandated newborn screening programs that test for a panel of genetic and metabolic disorders shortly after birth. For example, according to the Centers for Disease Control and Prevention (CDC), millions of babies in the U.S. are routinely screened each year using a few drops of blood from the newborn’s heel to detect certain genetic, endocrine, and metabolic disorders.
   
• Increasing awareness about genetic disorders such as Down syndrome, Edwards syndrome, and Patau syndrome is a major factor driving the adoption of prenatal screening, thereby contributing to market growth.
   

Based on application, the genetic testing market is classified into cancer treatment, tissue typing for transplantation, forensic identity testing, ancestry testing, paternity testing, and other applications. The cancer treatment segment is expected to reach USD 23.8 billion by 2032.
 

• Advances in genetic testing technologies have improved the ability to detect genetic predispositions to cancer at earlier stages. Early detection can lead to earlier intervention and potentially better patient outcomes.
   
• Additionally, genetic testing data contributes to the development of new cancer treatments and therapies through clinical trials. This fosters innovation in cancer treatment strategies and expands the range of options available to patients, thereby driving market growth.
   

Based on techniques, the genetic testing market is classified into polymerase chain reaction, DNA sequencing, cytogenetic testing, microarrays, and gene expression profiling. The DNA sequencing segment dominated the market with market share of 41.6% in 2023.
 

• The reduction in the cost of sequencing per base pair has made DNA sequencing more accessible and affordable, leading to increased adoption among healthcare providers and researchers.
   
• Advancements in next generation sequencing (NGS) technologies are driving this growth. These technologies have significantly reduced the costs and time required for DNA sequencing. Platforms from companies like Illumina and Thermo Fisher Scientific have transformed the field, enabling high-throughput sequencing at a fraction of previous costs.
   
• Additionally, the wide range of applications for DNA sequencing techniques is expected to further drive the segment's growth.
   

Based on end-use, the genetic testing market is classified into hospitals & clinics, diagnostic laboratories, forensic laboratories, and other end-users. The hospitals & clinics segment is expected to exhibit 12.2% CAGR between 2024 and 2032.
 

• Hospitals and clinics are increasingly adopting genetic testing to personalize treatment plans based on patients' genetic profiles. This trend is driven by a growing understanding of how genetic variations influence disease susceptibility and drug response.
   
• Furthermore, collaborations between genetic testing companies and healthcare providers are facilitating the integration of testing services into existing hospital and clinic workflows, making testing more accessible and contributing to the segment's growth. 
   

In 2023, North America secured a substantial market share of 46.3% in the genetic testing market and is expected to dominate throughout the forecast period.
 

• The region boasts a strong presence of major market players and leading research institutions focused on genetic research, fostering a conducive environment for the growth of the market.
   
• North America also benefits from a well-established healthcare infrastructure and a high level of awareness regarding genetic disorders, which drives the demand for genetic testing services and products such as kits, reagents, and software.
   
• Additionally, the U.S. government has been investing in research and development through various initiatives and grants. For instance, in November 2021, DNAScript received a grant of USD 2.2 million from the National Human Genome Research Institute to support its research.
   
• These investments not only drive innovation but also foster a competitive environment that encourages companies to push the boundaries of genetic testing technology. Overall, these initiatives by the U.S. government have significantly contributed to the growth of the market in the region.
   

Germany to experience the considerable growth rate in the Europe market.
 

• European countries have established comprehensive regulatory frameworks for genetic testing, ensuring quality control and patient safety. The European Union’s In Vitro Diagnostic Regulation (IVDR), which came into full effect in May 2022, provides clearer guidelines and increased transparency, thereby boosting market growth by ensuring the reliability and safety of genetic tests and driving the demand for genetic testing services.
   
• Additionally, Europe has seen significant investments in Next-Generation Sequencing technologies, which enable more efficient and cost-effective genetic testing. This technological advancement has made it feasible to offer a broader range of genetic tests to a larger population.
   

The Asia Pacific genetic testing market is expected to grow with a significant CAGR of 13.3% during the forecast period.
 

• The region is witnessing a notable increase in research and development activities, particularly in biotechnology, pharmaceuticals, and genetic engineering. This surge is fuelled by a growing emphasis on precision medicine, personalized healthcare, and advancements in genetic testing.
   
• Moreover, the rising prevalence of genetic diseases such as cystic fibrosis, sickle cell anemia, and Huntington's disease in the region is driving the need for genetic testing and personalized medicine. This trend is leading to increased demand for custom genetic testing services, further fuelling market growth.
   
• Furthermore, rapid industrialization and urbanization are leading to increased investments in healthcare infrastructure and research facilities, coupled with supportive government initiatives and funding for genomics research and development. For instance, the Chinese government has made substantial investments in genomics research, including support for genetic testing.
   

Genetic Testing Market Share

The competitive landscape of the market is characterized by intense rivalry among key players striving to innovate and expand their market presence. Leading companies such as Abbott Laboratories, Illumina Inc., and Qiagen N.V. dominate the market with their extensive product portfolios and robust R&D investments. Additionally, mergers, acquisitions, and strategic partnerships are common strategies employed to broaden market reach and access new technological capabilities.
 

Genetic Testing Market Companies

Prominent players operating in the genetic testing industry are as mentioned below:

• 23 and ME, Inc.
• Abbott Laboratories
• Ambry genetics
• Ancestry DNA 
• bioMerieux SA
• BGI Genomics
• Illumina, Inc.
• Invitae Corporation
• Luminex Corporation
• Myriad Genetics, Inc.
• Natera, Inc.
• QIAGEN N.V.
• Quest Diagnostics
• Siemens Healthineers AG
   

Genetic Testing Industry News:

• In February 2024, Sysmex Corporation and Hitachi High-Tech Corporation announced that both companies have agreed to collaborate in the development of genetic testing systems based on capillary electrophoresis sequencers (CE sequencers). This strategy is expected to enhance the company’s outreach to untapped economies.
   
• In July 2023, Quest Diagnostics announced the launch of its first consumer-initiated genetic test, called Genetic Insights. The new offering helps people understand their potential risk of developing certain inheritable health conditions, with advanced technology and end-to-end support that includes personalized health reports and access to genetic counselling. This helped the company expand its product offerings.
   

The genetic testing market research report includes an in-depth coverage of the industry with estimates & forecast in terms of revenue in USD Million from 2021 – 2032 for the following segments:

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Market, By Products & Services

• Kits & reagents
• Software & services

Market, By Test Type

• Predictive testing
• Carrier testing
• Prenatal and newborn testing
• Diagnostic testing
• Pharmacogenomic testing
• Nutrigenomics
• Other test types

Market, By Application

• Cancer treatment
• Tissue typing for transplantation
• Forensic identity testing
• Ancestry testing
• Paternity testing
• Other applications

Market, By Techniques

• Polymerase chain reaction
• DNA sequencing
  • Sanger sequencing
  • Next generation sequencing
• Cytogenetic testing
  • Chromosome analysis (karyotyping)
  • Fluorescence in situ hybridization (FISH)
• Microarrays
• Gene expression profiling

Market, By End-use

• Hospitals & clinics
• Diagnostic laboratories
• Forensic laboratories
• Other end-users

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

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