Genetic Testing Market Analysis & Forecast: 2025-2032

Genetic Testing Market is estimated to be valued at USD 23.04 Bn in 2025 and is expected to reach USD 52.22 Bn in 2032, exhibiting a compound annual growth rate (CAGR) of 12.4% from 2025 to 2032. The global genetic testing market is experiencing strong growth due to the rise in burden of genetic and rare disorders and increasing application of genetic testing in oncology. Moreover, increasing demand for direct-to-consumer genetic testing and growing applications of genetic testing is expected to boost the growth of the market. However, factors such as high cost of genetic testing and social & ethical implications of genetic testing are expected to hamper the market growth.

Global Genetic Testing Market: Regional Insights

Based on geography, the global genetic testing market is segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

Among regions, North America is expected to gain highest share in the market over the forecast period owing to the increasing prevalence of genetic and rare disorders, rise in burden of cancer, growing applications of genetic testing, and growing awareness about genetic testing in the region. For instance, according to the Genetic & Rare Diseases (GARD) Information Center, rare diseases are estimated to affect over 30 million people in the United States. GARD Information Center is a public health resource aiming to support people living with a rare disease and their caregivers by providing access to easy-to-understand information that is free and reliable.

Europe and Asia Pacific are also expected to witness robust growth in the global genetic testing market owing to the rise in burden of cancer, rise in burden of genetic and rare disorders, growing applications of genetic testing, and rising awareness about genetic testing in these regions. A large number of infants with genetic disorders are born every year due to the high birth rate in India. As per the National Institutes of Health (NIH), over 4,95,000 infants with congenital malformations, 3,90,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with beta-thalassemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year.

Figure 1. Global Genetic Testing, Market Share (%), by Region 2025

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Global Genetic Testing Market Drivers:

Rise in burden of genetic/rare disorders to propel market growth

One of the key factors expected to augment the growth of the global genetic testing market during the forecast period is the rise in burden of genetic and rare disorders across the world. For instance, According to the European Commission, up to 36 million people in the European Union (EU) live with a rare disease. There are more than 6000 distinct rare diseases in the EU. Around 80% of rare diseases are of genetic origin and, of those, over 70% already start in childhood. The EU's strategic objective for rare diseases is to improve patient access to diagnosis, information, and care, enabling patients and professionals to share expertise and information.

Rise in burden of cancer to underpin market growth

Another factor which is driving the growth of the global genetic testing market is the rise in burden of cancer and increasing application of genetic testing in oncology. For instance, genetic testing is a very reliable way to find mutations that may increase the risk of cancer. Genetic testing looks for certain mutations (changes) in a person's genes that might put them at higher risk of getting certain cancers. According to the World Health Organization (WHO), February 2022 report, cancer is one of the leading cause of death around the world, accounting for more than 10 million deaths in 2020 (or one in six deaths). This in turn is driving the market growth.

Global Genetic Testing Market Opportunities:

Growing applications of genetic testing is expected to provide significant growth opportunities for players in the genetic testing market. For instance, genetic testing helps rule out a genetic condition as the cause of symptoms, and there are thousands of genetic tests for diagnosing inherited genetic disorders. In February 2021, the U.S. Food and Drug Administration (FDA) authorized marketing of the first test to detect a genetic condition called Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS.

Growing demand for direct-to-consumer genetic testing worldwide is expected to offer significant growth opportunities for players in the global genetic testing market. In May 2022, FDA granted the use of LabCorp Seasonal Respiratory Virus RT-PCR DTC test to make the process accessible. It is a direct to consumer test intended for the simultaneous qualitative detection and differentiation of RNA from SARS-CoV-2, Influenza A virus, Influenza B virus, and Respiratory Syncytial Virus in anterior nasal swab specimens collected at home using Pixel by Labcorp COVID-19+Flu+RSV Test Home Collection Kit. This in turn is driving the market growth.

Global Genetic Testing Market Trends:

High demand for personalized medicine is a recent trend

Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made regarding prevention, diagnosis, and treatment of a disease. Personalized medicine uses genetic testing to tailor treatment to the specific biology of individual patients; has the potential to lower the overall cost of health care dramatically. Therefore, by identifying genetic variations related to these properties, drugs, and treatments can be improved making them safer and more effective. This trend is expected to continue over the forecast period.

Early disease detection and prevention is another trend

Early detection of diseases may help in early intervention and treatment, which in turn help cure the disease or improve the outcome and the quality of life of the patient. Genetic testing can provide information about a person's genetic background. The promise of genetic testing lies in its ability to reveal gene mutations, or changes in a genetic makeup that may cause disease. Genetic testing helps identify the risk of various types of cancers that may develop during an individual's lifetime. Thus, increasing emphasis on early disease detection and prevention is expected to propel growth of the genetic testing market.

Global Genetic Testing Market Restraints:

High costs of genetic testing to hinder market growth

One of the key factors expected to hamper growth of the global genetic testing market is the high cost of genetic testing. For instance, according to the National Institutes of Health (NIH), the cost of genetic testing can range from under US$ 100 to more than US$ 2,000, depending on the nature and complexity of a test. According to Breastcancer.org, the cost of genetic testing for cancer can vary greatly and can be between US$ 300 and 5,000. The cost of increases if more than one test is necessary or if multiple family members must be tested to obtain meaningful results.

Social and ethical implications to hamper market growth

Another factor which is hampering the growth of the global genetic testing market is the social & ethical implications of genetic testing. Genetic discrimination has moral and ethical implications. Each new genetic test that is developed raises serious issues for medicine, public health, and social policy regarding the circumstances under which the test should be used, how it is implemented, and what uses are made of its results. Moreover, the public's understanding of genetics or genetic testing may be limited and could lead to stigma.  

Figure 2. Global Genetic Testing, Market Share (%), by Type, 2025

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Global Genetic Testing Market Segmentation:

The global genetic testing market report is segmented into Type, Disease, Technology, and Geography.

Based on Type, the market is segmented into Carrier Testing, Diagnostic Testing, New-born Screening, Predictive and Presymptomatic Testing, Prenatal Testing, and Other Types. Out of which, Diagnostic Testing Segment is expected to dominate the genetic testing market over the forecast period and this is attributed to the rise in burden of genetic disease.

New-born Screening Segment is also expected to witness significant growth in the near future and this is owing to the increasing awareness among people about new-born screening.

Based on Disease, the market is segmented into Alzheimer's Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntington's Disease, Rare Diseases, and Other Diseases. Of which, Alzheimer's Disease Segment is expected to dominate the market over the forecast period and this is attributed to the increasing prevalence of Alzheimer's disease across the globe.

Cancer Segment is also expected to witness significant growth in the near future and this is owing to rise in burden of cancer around the world.

Based on Technology, the market is segmented into Cytogenetic Testing, Biochemical Testing, and Molecular Testing. Out of which, Cytogenetic Testing Segment is expected to dominate the market over the forecast period and this is attributed to the rise in burden of genetic disorders. The test helps diagnose a disease, plan treatment, or find out how well treatment is working.

Molecular Testing Segment is also expected to witness significant growth in the near future and this is due to increasing prevalence of inherited disorders. Genetic molecular testing has become a fundamental method for evaluating a growing number of inherited disorders.

Global Genetic Testing Market: Key Developments

In July 2022, 1health.io Inc. and Apollo Health Group collaborated to bring Apollo’s specialized high performing NGS tests, such as hereditary cancer genetic screenings and pharmacogenetics screenings to the broader clinical market.

In April 2022, MedGenome Labs announced the development and launch of an AI-enabled variant interpretation software suite, called VarMiner. It will help clinicians, molecular geneticists, and/or Genome analysts to interpret and report actionable genetic variants.

In April 2022, Invitae launched Neurodevelopmental Disorders (NDD) package to deliver a robust testing suite that can deliver actionable genetic insights to inform treatment plans for children with developmental disabilities.

In January 2022, Genetic Analysis AS and Thalys Medical Technology Group Corporation entered into a Laboratory Developed Test (LDT) agreement to evaluate and develop innovative diagnostic solutions for the rapidly growing human microbiota market in China.

Global Genetic Testing Market: Key Companies Insights

The global genetic testing market is highly competitive. This is attributed to the rise in burden of genetic and rare disorders, as a result, players in the market are focusing on developing/launching novel products in the market.

Some of the key players in the global genetic testing market are 23&Me Inc., Qiagen NV, Eurofins Scientific, PerkinElmer Inc., Illumina Inc., Danaher Corporation, Myriad Genetics Inc., Abbott Laboratories, F. Hoffmann-La Roche Ltd., Quest Diagnostics Incorporated, BioRad Laboratories Inc., and DiaSorin S.p.A. (Luminex Corporation), among others.

*Definition: Genetic test is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic testing is useful in many areas of medicine and can change the medical care people receives