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Genetic Testing Market

Genetic Testing Market: Information by Type (Carrier Testing, Diagnostic Testing), Technology (Cytogenetic Testing), Application (Cancer Diagnosis), and Region — Forecast till 2030

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Market Overview

The global genetic testing market size was worth USD 14825 million in 2021. It is projected to reach USD 36115 million 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.

The global genetic testing market share is divided by type, technology, application, and region.

Market Snapshot

market snapshot
Base Year
: 2021
Study Period
: 2020-2030
: 10 %
Fastest Growing Market
: Europe
Largest Market
: North America
Market Size
: USD 36115 million by 2030
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Market Dynamics

Global Genetic Testing Market Drivers

  • 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.

Global Genetic Testing Market Restraints

  • 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.

Future Growth Opportunities in the Global Genetic Testing Market

  • 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.

Segmental Analysis

The global genetic testing market share is divided by type, technology, application, and region.

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 comparatively a 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.

Based on technology, it is divided into cytogenetic testing, molecular testing, and biochemical testing; Molecular testing dominated the market. It is estimated to reach an expected USD 15290 million by 2030 at a CAGR of 10%. PCR (Polymerase Chain Reaction) is a standard procedure of molecular testing used to amplify targeted segments of DNA through repeated cycles of denaturation, annealing, and elongation. Likewise, there are several other options for performing molecular testing that is technologically advanced. Furthermore, significant factors such as an increase in the prevalence of infectious diseases and various types of cancers, an increase in awareness and acceptance of personalized medicines, and growth in biomarker identification drive the development of the market.

Cytogenetic testing is the fastest-growing segment. It is estimated to reach an expected value of USD 770 million by 2030 at a CAGR of 11%. Cytogenetics is used to develop personalized medicine, targeted cancer treatment, and others. Currently, a wide range of techniques such as comparative genomic hybridization, fluorescence in situ hybridization, and karyotyping are employed to screen genetic abnormalities and cancers. These techniques use cytogenetic products such as kits, media, and reagents. The rise in the prevalence of genetic disorders and cancer advancements in cytogenetics propels the market growth for cytogenetic testing.

Biochemical testing is the third-largest segment. It is estimated to reach an expected value of USD 5705 million by 2030 at a CAGR of 12%. Biochemical testing can be performed from a tissue sample containing protein, including blood, urine, amniotic fluid, and cerebrospinal fluid. Moreover, in September 2019, Clinical genetics firm Blueprint Genetics and rare disease diagnostics company Archimedlife medical laboratory announced a partnership to offer biochemical testing for rare diseases in North America. 

By application, it is divided into cancer diagnosis, genetic disease diagnosis, cardiovascular disease diagnosis, and others. 

The genetic disease diagnosis is the dominant segment. It is estimated to reach an expected value of USD 9500 million by 2030 at a CAGR of 9%. Advances in understanding the mechanisms behind genetic disease have enabled the development of early diagnostic tests, new treatments, or interventions to prevent disease onset or minimize disease severity. Moreover, the most widely used genetic testing is newborn screening. Almost every newborn in the U.S. is screened for several genetic diseases. Early detection of these diseases can lead to intrusions to prevent the onset of symptoms or minimize disease severity.

A cancer diagnosis is the fastest-growing segment. It is estimated to reach an expected value of USD 9100 million by 2030 at a CAGR of 11%. It is estimated to reach an expected value of USD million by 2030 at a CAGR of 11%. Genetic testing helps evaluate an individual's chance of developing cancer in his lifetime. It does this by probing for specific changes in a person's genes, chromosomes, or proteins. These changes are called mutations. Genetic tests are used for targeted cancer therapy to detect mutations in the DNA of cancer cells. Identifying whether cancer has a specific mutation can help guide a person's type of treatment. 

Regional Analysis

By region, it is classified into North America, Europe, Asia-Pacific, and LAMEA.

Will North America and Europe Be a Rewarding Market for Genetic Testing?

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 growth of the genetic testing market. 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 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 growth of the genetic testing market.

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 genetic testing 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.

Genetic Testing Market Regional Analysis
Regional Growth Insights Download Free Sample

Top Key Players of Genetic Testing Market

  1. Abbott Laboratories
  2. Bio-Rad Laboratories Inc. (RainDance Technologies, Inc.)
  3. Myriad Genetics, Inc. (Myriad RBM, Inc.)
  4. Danaher Corporation (Cepheid)
  5. F. Hoffmann-La Roche Ltd.
  6. Eurofins Scientific
  7. Ilslumina, Inc.
  8. Qiagen N.V.
  9. Thermo Fisher Scientific, Inc
  10. CSL Ltd.

Report Scope

Report Metric Details
CAGR 10%
Forecast Period 2023-2031
Report Coverage Revenue Forecast, Competitive Landscape, Growth Factors, Environment & Regulatory Landscape and Trends
Segments Covered
  1. By Type
    1. Predictive Testing & Presymptomatic Testing
    2. Carrier Testing
    3. Prenatal & Newborn Testing
    4. Diagnostic Testing
    5. Pharmacogenomic Testing
    6. Others
  2. By Technology
    1. Cytogenetic Testing/ Chromosome Analysis
    2. Biochemical Testing
    3. Molecular Testing
    4. DNA Sequencing
    5. Others
  3. By Application
    1. Cancer Diagnosis
    2. Genetic Disease Diagnosis
    3. Cardiovascular Disease Diagnosis
    4. Others
Geographies Covered
  • North America
  • Europe
  • APAC
  • Middle East and Africa

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 Segmentation

By Type

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

By Technology

  • Cytogenetic Testing/ Chromosome Analysis
  • Biochemical Testing
  • Molecular Testing
  • DNA Sequencing
  • Others

By Application

  • Cancer Diagnosis
  • Genetic Disease Diagnosis
  • Cardiovascular Disease Diagnosis
  • Others

By Region

  • North America
  • Europe
  • Asia-Pacific
  • LAMA

Frequently Asked Questions (FAQs)

What is the growth rate for the Genetic Testing Market?
Genetic Testing Market size will grow at approx. CAGR of 10% during the forecast period.
Some of the top industry players in Genetic Testing Market are, Abbott Laboratories, Bio-Rad Laboratories Inc. (RainDance Technologies, Inc.), Myriad Genetics, Inc. (Myriad RBM, Inc.), Danaher Corporation (Cepheid), F. Hoffmann-La Roche Ltd., Eurofins Scientific, Ilslumina, Inc., Qiagen N.V., Thermo Fisher Scientific, Inc, CSL Ltd., etc.
North America has held a dominant position in the Genetic Testing Market, with the largest market share.
The Europe region has experienced the highest growth rate in the Genetic Testing Market.
The global Genetic Testing Market report is segmented as follows: By Type, By Technology, By Application
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