Genetic Testing Market To Hit USD 39.2 Billion by 2032

Trishita Deb
Trishita Deb

Updated · Jun 7, 2024


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The global genetic testing market was valued at USD 15.9 billion in 2022 and is expected to reach USD 39.2 billion by 2032, growing at a CAGR of 9.7% from 2023 to 2032. This growth is driven by the increasing prevalence of genetic disorders, rising demand for personalized medicine, and advancements in genetic testing technologies, such as the adoption of next-generation sequencing (NGS) which is anticipated to grow at a CAGR of 22.8%.

Key growth factors include the rising incidence of cancer and other genetic diseases, necessitating early diagnosis and intervention. Due to heightened awareness and the push for early detection of genetic anomalies, the adoption of genetic testing in prenatal and newborn screening is also increasing. The prenatal and newborn testing segment dominated the market in 2022, reflecting the increasing focus on early genetic diagnosis.

Despite these growth drivers, the market faces significant challenges. The high cost of genetic testing, which can range from under USD 100 to over USD 2,000 depending on the complexity of the test, remains a major barrier to widespread adoption. Additionally, regulatory hurdles and data privacy concerns further impede market growth. Stringent regulatory requirements slow down the introduction of new tests, while fears of genetic discrimination and unauthorized data access deter potential users.

Recent developments in the genetic testing market include significant mergers, acquisitions, and funding activities that are shaping the industry. For instance, Labcorp’s aggressive M&A strategy includes a USD 239 million acquisition of Invitae’s assets, expanding its presence in oncology and rare diseases. This follows Labcorp’s USD 237 million purchase of BioReference Health’s clinical diagnostics and women’s health business, expected to generate USD 100 million in annual revenue. Veracyte also acquired C2i Genomics for up to USD 95 million, enhancing its cancer diagnostics capabilities.

Additionally, Gilead Sciences secured USD 210 million in funding from Abingworth to advance its antibody-drug conjugate, Trodelvy, for non-small cell lung cancer. These activities reflect a dynamic market focused on expanding capabilities and leveraging strategic partnerships to drive growth and innovation.

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Key Takeaways

  • The Global Genetic Testing Market was valued at USD 15.9 Billion in 2022.
  • It is projected to reach USD 39.2 Billion by 2032, indicating a Compound Annual Growth Rate (CAGR) of 9.7% from 2023 to 2032.
  • Consumables, comprising 59.6% of the market, generate the highest revenue among product segments.
  • Next-generation sequencing is expected to exhibit the highest growth rate among technologies, with a projected CAGR of 22.8%.
  • Health and wellness predisposition holds the largest share (46.8%) in the application segment.
  • Hospitals and clinics are the primary end-users, representing 45.8% of the market share.
  • North America leads the market with a revenue share of 42.6%, followed by Asia Pacific.
  • The genetic testing market is fragmented, with key players including Abbott Molecular, Circle DNA, and 24 Genetics.

Genetic Testing Statistics

  • Over the past decade, a total of 129,624 genetic tests were developed and submitted to the Genetic Testing Registry (GTR) in the United States as of November 2022.
  • This number rose to 197,779 genetic tests globally during the same period, showcasing the widespread adoption of genetic testing technologies.
  • In 2012, 1081 new genetic tests were introduced worldwide, indicating the steady growth of this market segment.
  • By 2022, this figure escalated to 6214 new genetic tests globally, reflecting a substantial increase in innovation and market expansion.
  • Within the United States, the number of new genetic tests surged from 607 in 2012 to 3097 in 2022, marking a significant growth trajectory.
  • Notably, 2016 experienced the most remarkable surge in new test availability during the study period, witnessing a staggering increase in the introduction of 21,952 genetic tests.
  • More than 90% of the tests submitted to GTR are intended for clinical purposes, underlining the vital role of genetic testing in medical diagnosis and treatment planning.
  • Analysis reveals that a mere 10 out of over 250 laboratories contribute to 81% of the new genetic tests submitted to GTR in the US, underscoring the concentrated nature of innovation in this sector.
  • Among the new genetic tests introduced between 2012 and 2022, approximately 93% were developed by laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA), ensuring high standards of testing quality and accuracy.
  • Diagnostic tests dominate the genetic testing landscape, constituting 62% of all new genetic tests registered during the study period.
  • Following diagnostics, risk assessment, pre-symptomatic testing, and screening emerge as significant categories, collectively comprising nearly 32% of new genetic tests introduced between 2012 and 2022.
  • The steady rise in the availability of genetic tests underscores the growing demand for personalized healthcare solutions and the increasing reliance on genetic insights for disease prevention, management, and treatment optimization.
  • Approximately 5% to 10% of all cancers are believed to result from inherited genetic changes passed down from parents, according to statistics from the National Cancer Institute.
  • Genetic testing is usually conducted on a small sample of bodily fluid or tissue, such as blood, saliva, or skin cells, and results are typically returned within 2 to 3 weeks.
  • Clinical practice guidelines recommend genetic testing for individuals diagnosed with specific cancers, including triple-negative breast cancer, ovarian cancer, pancreatic cancer, colorectal cancer before age 50, metastatic prostate cancer, or male breast cancer.

Recent Developments

  • In April 2024, Labcorp acquired assets from Invitae during a bankruptcy auction for USD 239 million. This acquisition focuses on enhancing Labcorp’s services in oncology and rare diseases. Additionally, Labcorp previously acquired BioReference Health’s clinical diagnostics and women’s health business for USD 237 million.
  • Veracyte acquired C2i Genomics for up to USD 95 million, aiming to enhance its cancer diagnostics capabilities. This acquisition is expected to strengthen Veracyte’s portfolio in the genomic diagnostics market.
  • Gilead Sciences secured USD 210 million from Abingworth to advance its antibody-drug conjugate, Trodelvy, for treating non-small cell lung cancer. This funding will support specific clinical trials and the potential expansion of Trodelvy’s regulatory approval.
  • Apogee Therapeutics raised approximately USD 420 million through an underwritten public offering. The funds are intended to support the company’s development projects and operational expansion.
  • In June 2022, Prenetics Group Limited launched ColoClear by Circle, an at-home screening test for early detection of colorectal cancer. This innovative product aims to improve early diagnosis and preventive healthcare for colorectal cancer.
  • In March 2022, Illumina launched a comprehensive cancer test in Europe designed to analyze a broad spectrum of tumor genes from a single tissue sample. This product enhances diagnostic capabilities and supports personalized treatment strategies for cancer patients.
  • Pyxis Oncology announced a private investment agreement to sell shares and pre-funded warrants, raising gross proceeds of approximately $50 million. The funds will be used to advance its oncology research and development initiatives.

Use Cases

  • Cancer Risk Assessment: Genetic testing is widely used to assess the risk of hereditary cancers. For example, tests for BRCA1 and BRCA2 gene mutations help identify individuals at high risk for breast and ovarian cancers, enabling preventive measures and early interventions.
  • Prenatal and Newborn Screening: Prenatal genetic testing detects genetic abnormalities in the fetus, such as Down syndrome and other chromosomal disorders. Newborn screening tests for metabolic and genetic disorders, allowing for early treatment that can prevent severe health issues.
  • Pharmacogenomics: Genetic testing helps determine how an individual’s genetic makeup affects their response to medications. This personalized approach, known as pharmacogenomics, can optimize drug efficacy and reduce adverse effects. For instance, testing for variations in the CYP2C19 gene can guide the use of antiplatelet drugs in cardiovascular disease patients.
  • Rare Disease Diagnosis: Genetic testing is essential in diagnosing rare genetic disorders, providing a definitive diagnosis that can guide treatment and management. For example, whole-exome sequencing can identify mutations responsible for conditions like cystic fibrosis and Huntington’s disease.
  • Carrier Testing: Carrier testing helps individuals understand their risk of passing genetic disorders to their children. This is particularly important for diseases like sickle cell anemia and Tay-Sachs disease, where knowing carrier status can inform family planning decisions.
  • Forensic and Genealogical Applications: Genetic testing is increasingly used in forensic science to solve crimes by matching DNA samples from crime scenes with genetic databases. Additionally, genealogical testing helps individuals trace their ancestry and find biological relatives.
  • Personalized Health and Wellness: Direct-to-consumer genetic tests offer insights into personal health and wellness traits, such as susceptibility to certain conditions, nutritional needs, and exercise responses. These tests empower individuals to make informed lifestyle choices.


In conclusion, the genetic testing market is poised for substantial growth, fueled by technological advancements and increasing awareness of genetic disorders. However, addressing cost and regulatory challenges will be crucial to realizing this potential. The market’s trajectory underscores the importance of innovation and strategic collaboration in overcoming these barriers and expanding the accessibility and efficacy of genetic testing globally.

Trishita Deb

Trishita Deb

Trishita has more than 7 years of experience in market research and consulting industry. She has worked in various domains including healthcare, consumer goods, and materials. Her expertise lies majorly in healthcare and has worked on more than 400 healthcare reports throughout her career.