The technological advancements, growing healthcare needs, increased social awareness about genetic testing, advancements in high-throughput sequencing technologies such as next-generation sequencing (NGS) and developed bioinformatics tools have enhanced the genetic testing in terms of speed, accuracy and affordability driving the market growth.
Genetic Testing Market Key Takeaways:
· Based on technology, the next generation sequencing segment led the market with the largest revenue share of 49.3% in 2024.
· The array technology segment is expected to grow at a significant CAGR during the forecast period.
· Based on application, the health and wellness-predisposition/risk/tendency segment led the market with the largest revenue share at 52.3% in 2024.
· The genetic disease carrier status segment is also expected to grow at a significant CAGR of 22.5% over the forecast period.
· The consumables segment led the market with the largest revenue share at 60.2% in 2024.
· The software & services segment is also expected to experience at a substantial CAGR of 24.8% during the forecast period.
· Based on channel, the offline segment led the market with the largest revenue share of 62.3% in 2024.
· The online channel is expected to exhibit at the fastest CAGR of 23.6% during the forecast period.
· Based on end use, the hospitals and clinics segment led the market with the largest revenue share at 44.0% in 2024.
· The diagnostic laboratories segment is expected to grow at the fastest CAGR of 22.7% during the forecast period
· North America genetic testing market dominated the global market with the largest revenue share of 45.38%% in 2024.
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Genetic Testing Market Overview
Genetic testing market can be embarked as the future of healthcare focusing on patient-centric care characterized by rapid advancements, evolving patient needs and provision of life-changing technologies boosting the market growth. With access to the genomic data, electronic health records (EHRs) and AI-driven predictive analytics combined with the pharmacology of drugs and value-based care can enable patient empowerment by actively engaging the patients to make informed decisions.
Genetic testing is defined as a medical procedure applied to analyze an individual’s DNA (deoxyribonucleic acid) to identify the changes which may lead or increase the risk of a genetic disorder. The genetic testing can help in diagnosis, risk assessment of inherited conditions, treatment, lifestyle changes, family planning, career choices and insurance coverage of an individual.
What are the Uses of Genetic Testing?
Genetic testing can provide information about a person's genetic background. The uses of genetic testing include:
• Newborn screening
Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. The U.S. Health Services and Resource Administration recommends that states screen for a set of 35 conditions, which many states exceed.
• Diagnostic testing
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.
• Carrier testing
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition.
• Prenatal testing
Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however.
• Preimplantation testing
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques (ART) such as in-vitro fertilization (IVF). In-vitro fertilization involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy.
• Predictive and presymptomatic testing
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific disorder and help with making decisions about medical care.
• Forensic testing
Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).
What are the benefits of genetic testing?
Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.
Genetic Testing Market Report Scope
|
Report Attribute |
Details |
|
Market size value in 2025 |
USD 14.59 billion |
|
Revenue forecast in 2034 |
USD 91.30 billion |
|
Growth rate |
CAGR of 22.6% from 2024 to 2034 |
|
Base year for estimation |
2024 |
|
Historical data |
2019 - 2023 |
|
Forecast period |
2024 - 2034 |
|
Quantitative units |
Revenue in USD million/billion and CAGR from 2024 to 2034 |
|
Report coverage |
Revenue forecast, company ranking, competitive landscape, growth factors, and trends |
|
Segments covered |
Technology, application, product, channel, end-use, region |
|
Regional scope |
North America; Europe; Asia Pacific; Latin America; MEA |
|
Country scope |
U.S.; Canada; Mexico; Germany; UK; France; Spain; Italy; Denmark; Sweden ; Norway; China; Japan; India; South Korea; Australia; Thailand; Brazil; Argentina; Saudi Arabia; Kuwait; UAE; South Africa. |
|
Key companies profiled |
24 genetics; Circle DNA; tellmegene; 23andme; AncestryDNA; MyDNA; Everly Well; Igenomix; VitaGen; Myriad Genetics Inc.; Mapmygenome; Helix OpCo LLC; MyHeritage Ltd.; Illumina, Inc.; Color Genomics, Inc.; Amgen, Inc.; Beyond Nutrition Health and Wellness Services DMCC |
|
Customization scope |
Free report customization (equivalent up to 8 analyst’s working days) with purchase. Addition or alteration to country, regional & segment scope. |
Genetic Testing Market Potential
The surge in developing genomic technologies during the past two decades has increased the applications of genetic testing among the population worldwide in clinical practice for the assessment of genetically inherited disorders driving the market growth.
For instance, genetic mutations are cause of increased risk for adverse health outcomes for about 2 million people in the United States which makes them liable to Hereditary Breast and Ovarian Cancer Syndrome (HBOC), Lynch syndrome and Familial hypercholesterolemia according to the data provided by CDC (Centers for Disease Control and Prevention).
This led to development of tier 1 genomic applications toolkit by CDC’s Office of Public Health Genomics (OPHG) for early risk assessment to reduce the morbidity and mortality rate.
Segment Insights
By Technology Insights
Based on technology, the next generation sequencing segment led the market with the largest revenue share of 49.3% in 2024. and is anticipated to grow during the forecast period. The growth of this segment can be attributed to many factors such as increased expenditure on healthcare, technological advancements, augmentation of genomic mapping, application of DNA sequencing technology for the identification and characterization of various types of cancers and genetic disorders, with tumour sequencing playing a major role in detecting unique DNA changes. The use of NGS for whole genome sequencing for genomic mapping and further genotyping of the data for testing and understanding of genetic modifications has aided in the development of precisely targeted treatment plans and improving personalized care.
The array technology segment is expected to grow significantly during the forecast period. The rising prevalence of cancer worldwide has fuelled the increased adoption rate of DNA – based array technology for diagnosing genetic diseases, uncovering gene expressions and advancing personalized medicine. The use of chromosomal microarray analysis (CMA) for whole-genome screening test detecting small genetic alterations is helpful in diagnosing unexplained developmental delay, autism spectrum disorder or intellectual disability in infants and children.
By Application Insights
Based on application, the health and wellness-predisposition/risk/tendency segment led the market with the largest revenue share at 52.3% in 2024. The increase in demand for predictive genetic testing and consumer wellness genomics due to the growing focus on healthy lifestyles and rising healthcare awareness. Genetic testing is applied for evaluation of potential risks and understanding the genetic makeup of an individual. It holds great value for individuals with a family of genetic disorders for example, haemophilia also known as the royal disease of several European royal families in the 19th and 20th centuries was carried through for three generations after Queen Victoria and later disappeared. Even so, the high cost of genomic research equipment and the complexity associated with predictive genetic testing and consumer wellness genomics restrict the market growth of this segment.
The genetic disease carrier status segment is also expected to grow at a significant CAGR of 22.5% over the forecast period. The carrier testing involves the evaluation of ancestral DNA to identify potential genetic conditions by matching it with all known genomic information with advances in the field of genetics which ultimately helps in taking countermeasures in case of newborns with genetic disorders. The increase in number of individuals opting for this test worldwide and the demand for genetic testing for carrier disease is driving the growth of this market.
By Product Insights
The consumables segment led the market with the largest revenue share at 60.2% in 2024. The involvement of several players for supplying and selling of the consumables, with provision of diverse range of products such as reagents and accessories. Consumables are extensively known for their application in genetic testing providing quick results promoting their growth rate in market due to the constant and repetitive use in genetic testing. The adoption of organic and inorganic growth strategies by various competitors in the market to update their existing product portfolios and enhancing the geographical reach thereby bolstering their presence in the market.
The software & services segment is also expected to experience at a substantial CAGR of 24.8% during the forecast period, which is boosted by calculated investments from Contract Research Organizations (CROs). The implementation of AI and machine learning tools for genetic testing such as CRISPR/Cas9 genome editing tool implements the use of AI for improving the efficiency, precision, and affordability.
By Channel Insights
Based on channel, the offline segment led the market with the largest revenue share of 62.3% in 2024. The growth is fundamentally driven by the direct-to-consumer marketing strategy owing to the increased research funding in molecular biology leading to the increased awareness and adoption of personalized medicine. The direct-to-consumer tests made easily accessible by companies to consumers through over-the-counter and online channels is boosting the market growth.
The online channel is expected to exhibit at the fastest CAGR of 23.6% during the forecast period. The development of new advanced technologies in molecular genetic testing has enabled the expansion of the testing industry. Moreover, the extensive range of genetic testing solutions presented by the surfacing of numerous private diagnostic laboratories is driving the market growth. The accessibility and availability of buccal swab collection kits and saliva for over-the-counter sales by pharmacies is a remarkable trend gaining surge and further contributing to the growth of the offline channel segment.
By End-Use Insights
Based on end use, the hospitals and clinics segment led the market with the largest revenue share at 44.0% in 2024. The increased adoption of genetic testing by hospitals and clinics for mandatory newborn screening for genetic disorders, providing personalized treatment plans for patient’s based on their genetic profiles and the collaborations among healthcare providers and genetic testing companies for providing advanced genetic testing services in hospitals and clinical workflows is boosting the growth of this segment during the forecast period. The utilization of clinical genetics for many years in acute care has helped in diagnosing triosomies in the neonatal period or informing the care of babies born with ambiguous genitalia.
Furthermore, the diagnostic laboratories segment is expected to grow significantly owing the specialized expertise provided by them. Diagnostic labs are well-equipped with professional geneticists and molecular biologists and state of the art infrastructure. The increase in collaborations and partnerships with genetic testing companies is driving the market growth. For example, the provision of advanced technologies like next-generation sequencing (NGS) and quantitative PCR for conducting genetic research and testing by Thermo Fisher Scientific is enhancing the testing capabilities of the diagnostic labs and attributing to the growth of the market
By Regional Insights
North America genetic testing market dominated the global market with the largest revenue share of 45.38%% in 2024. With the rising demand for diagnostic services, the prevalence of genetic disorders, adoption of personalized medicine, advancement of diagnostic technologies with the integration of AI and machine learning and the implementation of Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule for safeguarding the patients’ confidentiality has led to dominance of this region in the market. Furthermore, the support of government through various initiative, rising investments, the presence of multitude of key market players and well-developed healthcare infrastructure is boosting the market overall market growth of this region.
The Asia Pacific region is anticipated to flourish during the forecast period. The rising prevalence of non-communicable diseases (NCDs) such as cardiovascular diseases, diabetes and cancer due to physiological, behavioural, genetic, environmental factors and the load genetic diseases such as thalassemia, cystic fibrosis and sickle cell anaemia among infants is promoting the use of genetic testing for early risk assessment to take countermeasures. The high population base within India and China dominating the world population statistics respectively in 2024 is helpful in genomic data monitoring of wide range of diverse patient pools with the improvement and rising investments in healthcare infrastructure are creating growth opportunities for the genetic testing market.
· The GenomeINDIA project launched in Feb 2024 by the Ministry of Science and Technology of India which has completed the whole genome sequencing
(WGS) of more than 10000 individuals as of 5th January 2024 from 99 communities covering all the major ethnic populations of the country. The initiative shows India’s commitment towards enhancing public health interventions, provision of tailored personalized treatments and drug development anticipating the market growth of the region.
U.S. Genetic Testing Market Trends
The genetic testing market in U.S. is projected to grow at a significant CAGR during the forecast period, driven by combination of factors, including increasing awareness of the benefits of early disease detection, advancements in molecular biology, and a growing emphasis on personalized medicine.
Europe Genetic Testing Market Trends
The genetic testing market in Europe is likely to emerge as a lucrative region in the industry. Advances in genetic testing technologies, such as next-generation sequencing (NGS), have made testing more accurate, accessible, and cost-effective, fueling demand across both clinical and research settings. Furthermore, government initiatives and funding for genetic research and healthcare improvements, along with an increased focus on preventative care and early diagnosis, are accelerating market expansion.
The UK genetic testing market is projected to grow at the fastest CAGR during the forecast period. The UK government's commitment to healthcare innovation, including funding for genomic research and initiatives like the 100,000 Genomes Project, is accelerating the development and use of genetic testing. In addition, the increasing prevalence of genetic diseases and the growing adoption of direct-to-consumer genetic testing are further contributing to market expansion.
The genetic testing market in France is expected to grow at a steady CAGR over the forecast period, driven by advancements in medical research, an increasing focus on personalized healthcare, and rising awareness of genetic disorders. The French healthcare system is placing greater emphasis on precision medicine, which is driving the demand for genetic testing services, especially for oncology, hereditary diseases, and prenatal testing.
The Germany genetic testing market is projected to expand at a significant CAGR during the forecast period. The country's strong healthcare infrastructure and commitment to integrating genomic technologies into clinical practice are driving the adoption of genetic testing, particularly for oncology, rare diseases, and prenatal screening. Government funding for genomics research and the expansion of healthcare initiatives aimed at early disease detection further support market growth.
Asia Pacific Genetic Testing Market Trends
The genetic testing market in Asia Pacific is expected to experience at the fastest CAGR of 25.7% during the forecast period. The growing prevalence of chronic and genetic diseases, along with the rising demand for personalized medicine, is fueling the need for genetic testing services. Governments in several countries are also supporting the market by funding genomics research and integrating genetic testing into public health programs. Furthermore, the increasing adoption of direct-to-consumer genetic testing and the expansion of healthcare access in emerging economies are contributing to the overall market growth in the Asia Pacific region.
The China genetic testing market is projected to expand at a significant CAGR throughout the forecast period, driven by several key factors, including increasing healthcare investments, rising prevalence of genetic disorders, and advancements in medical research. The Chinese government is actively promoting the development of precision medicine and genomics research, which is driving the demand for genetic testing services.
The genetic testing market in Japan is anticipated to grow at the fastest CAGR during the forecast period, due to advancements in genomic research, increasing demand for personalized medicine, and a rising focus on preventive healthcare. The Japanese government has made significant investments in genomic healthcare, promoting initiatives to integrate genetic testing into public health programs and clinical practice.
Latin America Genetic Testing Market Trends
The genetic testing market in Latin Americais expected to experience at a significant CAGR throughout the forecast period. There is a growing demand for genetic testing services, particularly in countries with stronger healthcare infrastructure, like Brazil and Argentina. The expanding adoption of personalized medicine, coupled with government initiatives to enhance healthcare access and funding for genetic research, is further supporting the market. Moreover, the rising middle class, increasing healthcare investments, and greater access to direct-to-consumer genetic tests are fueling market expansion across the region.
The Brazil genetic testing market is anticipated to grow at the fastest CAGR during the forecast period, mainly due to increasing demand for personalized medicine, rising awareness of genetic disorders, and advancements in healthcare technology.
The genetic testing market in Saudi Arabia is anticipated to experience at a substantial CAGR during the forecast period. Saudi Arabia's government is actively supporting genetic research and the integration of genomic technologies into healthcare systems, aiming to improve early disease detection and personalized treatments. With a growing incidence of genetic disorders and chronic diseases, there is an increasing demand for genetic testing, particularly for prenatal screening, oncology, and rare diseases.
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Related Report -
Predictive Genetic Testing And Consumer Genomics Market- The predictive genetic testing and consumer genomics market size was exhibited at USD 4.95 billion in 2024 and is projected to hit around USD 14.97 billion by 2034, growing at a CAGR of 11.7% during the forecast period 2024 to 2034.
Direct-to-Consumer Genetic Testing Market- The global direct-to-consumer genetic testing market size was exhibited at USD 1.94 billion in 2023 and is projected to hit around USD 17.36 billion by 2033, growing at a CAGR of 24.5% during the forecast period of 2024 to 2033.
Rare Disease Genetic Testing Market- The global rare disease genetic testing market size was estimated at USD 887.80 million in 2022 and is expected to surpass around USD 3,381.87 million by 2032 and poised to grow at a compound annual growth rate (CAGR) of 14.31% during the forecast period 2023 to 2032.
U.S. Direct-to-Consumer Genetic Testing Market- The U.S. direct-to-consumer genetic testing market size was exhibited at USD 1.19 billion in 2022 and is projected to hit around USD 3.66 billion by 2032, growing at a CAGR of 11.9% during the forecast period 2023 to 2032.
Some of the prominent players in the genetic testing market include:
· 24 genetics
· Tellmegen
· 23andme
· MyDNA
· Everly Well
· Igenomix
· VitaGen
· Myriad Genetics, Inc.
· Mapmygenome
· Helix OpCo LLC
· MyHeritage Ltd.
· Illumina, Inc.
· Color Genomics, Inc.
· Amgen, Inc.
· Beyond Nutrition Health and Wellness Services DMCC
Genetic Testing Market Recent Developments
·
On October 23, 2024, the National Cancer
Institute (U.S.) posted a press release about launching a proof-of-concept
precision medicine clinical trial testing by using new treatment combinations
which will target the specific genetic changes happening in the cancer cells of
people affected with acute myeloid leukemia (AML) and myelodysplastic syndromes
(MDS).
· A recent research study launched in Sep 2023 called as Early Check which screened 1000 newborns up to four weeks old in the North Carolina state under its genome sequencing study for assessing a newborn’s genetic risk for developing diabetes (type 1) in their lifetime.
Segments Covered in the Report
This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2034. For this study, Nova one advisor, Inc. has segmented the genetic testing market
By Technology
· Next Generation Sequencing
· Array Technology
· PCR-based Testing
· FISH
· Others
By Application
· Ancestry & Ethnicity
· Traits Screening
· Genetic Disease Carrier Status
· New Baby Screening
· Health and Wellness-Predisposition/Risk/Tendency
By Product
· Consumables
· Equipment
· Software & Services
By Channel
· Online
· Offline
By End-use
· Hospitals & Clinics
· Diagnostic Laboratories
· Others
By Regional
· North America
· Europe
· Asia Pacific
· Latin America
· Middle East and Africa (MEA)
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