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Genetic Testing Market Size, Share & Trends Analysis Report By Type (Predictive Testing & Presymptomatic Testing, Carrier Testing, Prenatal & Newborn Testing, Diagnostic Testing, Pharmacogenomic Testing, Others), By Technique (Polymerase chain reaction (PCR), DNA Sequencing, Cytogenetics, Microarrays, Others), By Application (Oncology, Cardiovascular Disease Diagnosis, Neurological Disorders, Genetic Disorders, Others), By End User (Hospitals & Clinics, Diagnostic Laboratories, Others) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2022-2030

Report Code: SRHI442DR
Last Updated : Dec 02, 2024
Author : Debashree Bora
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Genetic Testing Market Size

The global genetic testing market size was worth USD 14.82 billion in 2021 and is projected to reach USD 36.11 billion by 2030, growing at a CAGR of 10% during the forecast period (2022-2030). 

Genetic testing involves the study of DNA that recognizes gene mutation linked with multiple congenital disorders. There are many types of genetic testing and several methods, such as cytogenetic testing, biochemical testing, molecular testing, and chromosome analysis, used to determine changes in a person's chromosomes, genes, or proteins. 

The global genetic testing market is predicted to register substantial growth in coming years due to the rise in incidences of genetic disorders and cancer and the spike in awareness & acceptance of personalized medicines. Conversely, untapped emerging markets in emerging countries are expected to provide remunerative opportunities for the market players.


Genetic Testing Market Growth Factors

The Rise in Awareness and Acceptance of Personalized Medicines

Personalized medicine is based on the principle that each patient is different and requires individualistic drug treatment. Large-scale drug discovery is essential to increase the feasibility and practicality of personalized medicines to detect diseases and disorders. Genetic testing has been widely adopted in pharmacogenomics, also referred to as drug-gene testing. It helps in accelerating drug discovery and development. 

Moreover, researchers know that customized disease treatments are seemingly possible through various genetic testing techniques such as cytogenetic, biochemical, molecular, and DNA sequencing. Furthermore, patients' requests to primary care physicians for genetic testing are anticipated to rise, especially among healthy adults seeking early detection or prevention of genetic disorders. This trend is predicted to propel the market growth during the forecast period. 

Advancements in Genetic Testing Techniques

Technological advancements in genetic testing include the development of next-generation sequencing and chromosomal microarray analysis, which transforms the determination of structural and numerical abnormalities in chromosomes and, in turn, leads to the detection of various rare genomic and genetic disorders. 

Moreover, in September 2019, Roche launched a blood-based genomic profiling test, FoundationOne Liquid. This test can detect 70 most common mutated genes in solid tumors and microsatellite instability. In addition, in May 2020, Myriad Genetics, Inc. announced that the U.S. Food and Drug Administration (FDA) had approved BRACAnalysis CDx for use as a companion diagnostic test by healthcare professionals to identify patients with metastatic pancreatic cancer who have a germline BRCA mutation and are candidates for treatment with PARP (poly ADP ribose polymerase) inhibitor Lynparza (olaparib). Significant key players' advancements in genetic testing products are projected to serve as growth factors for the cytogenetic market during the forecast period.

Market Restraining Factors

Stringent Regulatory Requirements for Product Approvals

Genetic testing consists of various risks other than technology risks. FDA regulates genetic tests in diverse ways, with some requiring regulatory pathways as complex as Class III medical devices. In contrast, most others are approved as 510 k devices or lab-developed tests (LDTs).

FDA's final guidance indicates companies may not market a single device using a single label containing both approved and unapproved uses. However, the FDA has declared that it will permit genetic testing instruments that have both approved/cleared functions and additional tasks for which a sponsor need not seek approval or clearance to be marketed as long as there are specific controls in place. CE (Conformitè Europëenne) mark the regulatory body of Europe is more stringent and more precise as compared to the FDA, as every IVD (In Vitro Diagnostic Device) manufacturer has to compile a file, which must include some information such as device design, its use, and risk assessment and should comply with 98/79/EC, only then the request of a product is accepted by the European Authority. Thus, stringent regulatory requirements for the approval of genetic testing instruments are expected to restrain the market's growth.

Market Opportunities

Untapped Emerging Markets in Developing Countries

Healthcare systems in emerging e such as Brazil, India, and China have experienced a significant increase in investments in healthcare and infrastructure. Additionally, emerging nations need to focus on cost-effectiveness and scalability to cater to the needs of the rising patient pool. The ease and applicability of genetic testing methodologies have gradually benefitted R&D activities in Asia and other developing regions of the world. Similarly, different genome-based projects in these regions, such as the China Genome, have stimulated market growth.

A large population base, a decrease in costs of genetic testing techniques, and a rise in awareness about genetic disorders in Asia-Pacific are expected to provide numerous growth opportunities to the market players during the forecast period. For instance, in May 2020, Takara Bio USA, Inc. announced the completion of a new GMP (Good Manufacturing Practice) facility for manufacturing gene and cell therapy products in Shiga, Japan. Takara Bio USA, Inc. is a wholly-owned subsidiary of Takara Bio Inc. that manufactures and distributes kits, reagents, and instruments for life sciences, including NGS, Next-Generation Sequencing), PCR (Polymerase Chain Reaction) gene delivery, genome editing, nucleic acid & protein purification, and automated sample preparation. Thus, such expansions by prominent key players are expected to serve as growth factors in emerging economies.

Study Period 2018-2030 CAGR 10%
Historical Period 2018-2020 Forecast Period 2022-2030
Base Year 2021 Base Year Market Size USD 14.82 Billion
Forecast Year 2030 Forecast Year Market Size USD 36.11 Billion
Largest Market North America Fastest Growing Market Europe
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Regional Insights

North America: Dominant region with 9% market share

North America dominated the market. It is estimated to reach an expected value of USD 9595 million by 2030 at a CAGR of 9%. North America accounted for 40% of the global genetic testing market in 2019. In addition, the market experiences continuous growth, as North America significantly contributes toward the spread of awareness related to genetic disorders among patients. For instance, September 2020 is the sickle cell anemia awareness month each year in America. In addition, the presence of the majority of key players in this region is a critical factor for the genetic testing market growth. Moreover, the U.S. market for genetic testing is expected to occupy the largest market share from 2019 to 2027, owing to technological advancements in equipment & products. 

Europe: Fastest growing region with the highest CAGR

Europe is the second-largest region. It is estimated to reach an expected USD 8665 million by 2030 at a CAGR of 10%. This is attributed to increased patient awareness regarding genetic disorders such as thalassemia, cancer, and cystic fibrosis. Moreover, various genomics projects are undertaken by research organizations, such as the 100,000 Genomes project, in this region also supplement the market growth.

Asia-Pacific is the fastest-growing region. It is estimated to reach an expected value of USD 6000 million by 2030 at a CAGR of 9%. Asia-Pacific offers rewarding prospects for the genetic testing market and is anticipated to grow at the highest rate during the forecast period. It is densely populated, with India and China being the most populated countries. Thus, due to a large population base, these nations have a burden of the wide prevalence of genetic disorders. Although most cancer is higher in North America and Europe than in Asia-Pacific, the cancer incidence rate in China and Japan has increased over the past few decades. This growth in the prevalence of cancer boosts the market growth. Furthermore, an increase in awareness among individuals related to genetic disorders and a rise in disposable income leading to an increase in early screening of these disorders are also expected to boost the market growth in this region.

The presence of developing countries in Asia-Pacific serves as potential markets for genetic testing. The surge in the incidence of genetic disorders and increased awareness of these disorders in China, Japan, and India propel the market growth. Moreover, an increase in healthcare expenditure and technological advancements concerning genetic testing is anticipated to act as key growth factors for the market during the forecast period. Significant efforts have been taken toward an increase in awareness related to genetic disorders in Australia, further fueling the market's growth. For instance, nonprofit organizations such as Thalassemia and Sickle Cell Australia (TASCA) work extensively toward spreading disease awareness. Along with this factor, an increase in genome mapping projects in Asia is anticipated to boost market growth.

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Genetic Testing Market Segmentation Analysis

By Type

The market is divided into predictive and presymptomatic testing, carrier testing, prenatal and newborn testing, diagnostic testing, pharmacogenomic testing, and others. Predictive and presymptomatic testing is the fastest-growing segment. It is estimated to reach an expected value of USD 7020 million by 2030 at a CAGR of 12%. Predictive or presymptomatic tests have gained popularity in revealing future risks by providing information on an individual's chromosomes and genetic mutations. The predictive genetic test is a comparatively novel approach and is rapidly becoming an emerging genetic test in health practices, especially in developed economies. It is progressively used to guide nutritional strategies and training outcomes for several disorders.

Prenatal and newborn testing dominated the market. It is estimated to reach an expected value of USD 8125 million by 2030 at a CAGR of 9%. Newborn screening tests babies in their initial days of life for specific disorders and conditions that can hamper their normal development. Early detection and treatment help prevent intellectual and physical disabilities and life-threatening illnesses. Prenatal and newborn genetic testing is mainly performed to detect disorders including phenylketonuria (PKU), congenital hypothyroidism, galactosemia, sickle cell disease, and cystic fibrosis (CF).

Diagnostic testing is the third-largest segment. It is estimated to reach an expected USD 5075 million by 2030 at a CAGR of 8%. Diagnostic tests from instead being used to diagnose a specific disease are now used to support the clinical development of drugs, predict conditions before symptoms begin, forecast the progress of a disorder, and identify patients who are most likely to respond or not respond to specific treatments. In addition, significant factors, including the rise in awareness among medical professionals and patients about early disease diagnosis and the increase in the prevalence of genetic disorders such as cancer, cystic fibrosis, and Alzheimer's across the globe, are anticipated to boost the market growth for diagnostic testing.

By Technique

The market is segmented into polymerase chain reaction (PCR), DNA sequencing, cytogenetics, microarrays, and others.  The DNA sequencing segment's dominance in the market, coupled with its strong projected CAGR of 10.20% during the forecast period, can be attributed to several key factors. Firstly, the rapid advancements in next-generation sequencing (NGS) technologies have made DNA sequencing more efficient, accurate, and cost-effective, leading to widespread adoption across various applications, such as oncology, rare disease diagnosis, and prenatal testing. The increasing demand for personalized medicine, which relies heavily on detailed genetic information to tailor treatments, has further fueled the growth of this segment. Additionally, the ongoing decrease in sequencing costs, improved bioinformatics tools, and the expanding application of DNA sequencing in research and clinical settings have made it more accessible to a broader range of users. Moreover, the rising prevalence of genetic disorders and cancers has driven the need for comprehensive genetic testing, where DNA sequencing plays a crucial role in identifying genetic mutations and guiding targeted therapies. These factors collectively contribute to the robust growth prospects of the DNA sequencing segment in the market.

By Application

The market is categorized into oncology, cardiovascular disease diagnosis, neurological disorders, genetic disorders, and others. The oncology segment accounted for the largest market share due to several compelling factors. This predominance is largely due to the critical role that genetic testing plays in cancer diagnosis, treatment, and management. Genetic testing in oncology enables the identification of genetic mutations and biomarkers that are pivotal in understanding the molecular basis of various cancers. This information is crucial for personalized medicine, allowing for tailored treatment plans based on the specific genetic profile of the tumour. The growing emphasis on precision oncology, which integrates genetic insights to improve therapeutic outcomes, has significantly boosted the demand for genetic testing in this field. Additionally, the increasing prevalence of cancer and advancements in genomic technologies have enhanced the ability to detect and target specific genetic alterations, further driving the expansion of the oncology segment. The ability to provide actionable insights for early detection, prognosis, and targeted therapy contributes to its leading position in the market.

By End User

The market is divided into hospitals & clinics, diagnostic laboratories and others. The hospitals & clinics segment accounted for the largest share in the market and is expected to maintain strong growth during the forecast period owing to several key factors. Firstly, hospitals and clinics are primary centres for patient care and diagnostic services, making them key venues for the utilization of genetic tests. The increasing adoption of genetic testing in clinical settings for disease diagnosis, risk assessment, and personalized treatment plans drives demand within these facilities. Additionally, the integration of genetic testing into standard care protocols, particularly for oncology, cardiology, and rare genetic disorders, enhances its application in hospitals and clinics. The growing emphasis on precision medicine and personalized healthcare is also propelling the demand for genetic testing services in these settings. With the expanding capabilities of hospitals and clinics to offer comprehensive genetic testing services, this segment is well-positioned for continued growth.

Market Size By Type

Market Size By Type
  • Predictive Testing & Presymptomatic Testing
  • Carrier Testing
  • Prenatal & Newborn Testing
  • Diagnostic Testing
  • Pharmacogenomic Testing
  • Others

  • List of key players in Genetic Testing Market

    1. Tellmegen
    2. 24 genetics
    3. AncestryDNA
    4. Igenomix
    5. Myriad Genetics, Inc.
    6. Illumina, Inc.
    7. Amgen, Inc.
    8. F. Hoffmann-La Roche Ltd.
    9. Abbott Laboratories
    10. Qiagen N.V.
    11. PerkinElmer
    12. DiaSorin S.p.A. 
    13. Experteam s.r.l.
    14. Real Gene S.r.l.
    15. DNA SOLUTIONS
    16. Circle DNA
    17. MapmyGenome

    Genetic Testing Market Share of Key Players

    Genetic Testing Market Share of Key Players

    Recent Developments

    • April 2022 - Bio-Rad Laboratories, Inc. (NYSE: BIO and BIOb), a global leader in life science research and clinical diagnostic products, today introduced a range of antibodies that are specific to cemiplimab (Libtayo) and inhibit the binding of the drug to its target, human programmed death receptor-1 (PD-1). These ready-made antibodies are suitable for developing selective and sensitive assays for bioanalysis and drug monitoring of cemiplimab

    Genetic Testing Market Segmentations

    By Type (2018-2030)

    • Predictive Testing & Presymptomatic Testing
    • Carrier Testing
    • Prenatal & Newborn Testing
    • Diagnostic Testing
    • Pharmacogenomic Testing
    • Others

    By Technique (2018-2030)

    • Polymerase chain reaction (PCR)
    • DNA Sequencing
    • Cytogenetics
    • Microarrays
    • Others

    By Application (2018-2030)

    • Oncology
    • Cardiovascular Disease Diagnosis
    • Neurological Disorders
    • Genetic Disorders
    • Others

    By End User (2018-2030)

    • Hospitals & Clinics
    • Diagnostic Laboratories
    • Others

    Frequently Asked Questions (FAQs)

    How much is the genetic testing market worth?
    Straits research predicts that the global genetic testing market size was worth USD 14.82 billion in 2021. It is projected to reach USD 36.11 billion by 2030.
    The global market growth rate growing at a 10% from 2022 to 2030.
    The rise in awareness and acceptance of personalized medicines, is a key growth factor driving advancements in genetic testing.
    North America holds the largest market share with its technological advancements in equipment & products.
    Currently, the predictive and presymptomatic testing segment dominates the market


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