Genetic Testing Market - Growth, Trends, COVID-19 Impact, and Forecasts (2022 - 2027)

The Genetic Testing Market is segmented by Type (Carrier Testing, Diagnostic Testing, New-born Screening, Predictive and Presymptomatic Testing, Prenatal Testing, and Other Types), Disease (Alzheimer's Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntington's Disease, Rare Diseases, and Other Diseases), Technology (Cytogenetic Testing, Biochemical Testing, and Molecular Testing), and Geography (North America, Europe, Asia-Pacific, Middle-East and Africa, and South America). The report offers the value (in USD million) for the above segments.

Market Snapshot

 Genetic Testing Market Overview
Study Period: 2018-2026
Base Year: 2021
Fastest Growing Market: Asia Pacific
Largest Market: North America
CAGR: 10.45 %

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Market Overview

The genetic testing market was valued at approximately USD 7,836 million in 2020, and it is expected to witness a revenue of USD 14,227 million in 2026, with a CAGR of 10.45% over the forecast period.

The COVID-19 pandemic has left a significant impact on the growth of the genetic testing market over the crisis. According to the research article published in Genetics in Medicine 2020, all the clinical genetic testing was restricted and telemedicine-based consultations and counseling were adopted globally. As per this study, 112 prenatal and 156 clinical genetics/cancer patients were evaluated in a span of one month at the Columbia University Irving Medical Center (CUIMC). Most of the genetic testing services have adopted virtualization, along with home testing kit/home sample collection, to combat the transmission of the SARS-CoV2 virus. However, according to the research article published in the Journal of Medical Genetics 2020, there was hindrance reported in accessing genetic testing blood draws, as a result of which the genetic testing was tremendously impacted, wherein a reduction in genetic testing from 97.7% to 74.1% was observed during the virtual care period. Hence, COVID-19 is expected to have a direct and indirect impact on the genetic testing market over the ongoing crisis period.

Moreover, the increasing technological advancements from the past few years have opened several opportunities for market expansion. The rise in the prevalence of chronic diseases and the development of customized testing kits for niche therapeutic areas are aiding the rapid growth of the market. According to the United Nations’ World Population Prospects 2019 Data, one in six people in the world will be over age 65 years by 2050, up from one in 11 in 2019, and the number of individuals aged 80 years or over by 2050 is projected to triple, from 143 million in 2019 to 426 million. The growing geriatric population is more prone to chronic diseases, and thus, this surges the demand for preventive diagnostics, particularly genetic testing.

The increasing focus by governments of various countries, to regulate and create awareness regarding genetic tests, has successfully resulted in the faster adoption of these tests across the world. The increasing R&D funding, along with the strong market presence by major players in the market, has created a strong entry barrier for new entrants. Innovation in product design, improvement in quality, and strong distribution partnerships are key parameters to retain a competitive edge in the market. For instance, in August 2020, Ricoh Company Ltd and DNA Chip Research Inc. launched RICOH Standard DNA Series EGFR mutation Type001, which is a reference DNA plate to be used in the blood-based genetic testing in the diagnosis of lung cancer.

The adoption of direct-to-consumer genetic testing kits in countries, like the United States, China, and Japan, is growing rapidly. With increasing technological adoptions, awareness programs, and a decline in costs, the market for DTC-GT (Direct-to-consumer genetic testing) kits is likely to witness a significant boost over the forecast period. Moreover, the untapped countries, like India and other developing countries, are expected to offer a lucrative opportunity for players looking to establish their base in the genetic testing market.

Thus, given the growing burden of chronic diseases, technological advancements and inclination toward personalized medicine are expected to result in significant growth of the genetic testing market over the forecast period.

Scope of the Report

As per the scope of the report, a genetic test is a form of medical testing, which is performed to identify any changes in the DNA sequence or chromosome structure. The gene within the DNA sequence can be identified either directly through sequencing or indirectly through various genetic testing methods. Genetic testing practices are rapidly increasing in rare disease diagnostics and in personalized medicine. The genetic testing market is segmented by type (carrier testing, diagnostic testing, new-born screening, predictive and presymptomatic testing, prenatal testing, and other types), disease (Alzheimer's disease, cancer, cystic fibrosis, sickle cell anemia, Duchenne muscular dystrophy, thalassemia, Huntington's Disease, rare diseases, and other diseases), technology (cytogenetic testing, biochemical testing, and molecular testing), and geography (North America, Europe, Asia-Pacific, Middle-East and Africa, and South America). The report offers the value (in USD million) for the above segments.

By Type
Carrier Testing
Diagnostic Testing
New-born Screening
Predictive and Presymptomatic Testing
Prenatal Testing
Other Types
By Disease
Alzheimer's Disease
Cystic Fibrosis
Sickle Cell Anemia
Duchenne Muscular Dystrophy
Huntington's Disease
Rare Diseases
Other Diseases
By Technology
Cytogenetic Testing
Biochemical Testing
Molecular Testing
North America
United States
United Kingdom
Rest of Europe
South Korea
Rest of Asia-Pacific
Middle East and Africa
South Africa
Rest of Middle East and Africa
South America
Rest of South America

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Key Market Trends

The Genetic Testing Market is Expected to Dominate in the Cancer Disease Segment Over the Forecast Period

Genetic testing helps in identifying the risk of developing various types of cancers during the individual's lifetime. Genetic tests are available to test inherited variants and mutations in the DNA sequence, which could lead to excessive growth of the cells and lead to tumor/cancer. For instance, genetic testing for the identification of PALB2 (associated with increased risks of breast and pancreatic cancers), CHEK2 (breast and colorectal cancers), BRIP1 (ovarian cancer), and RAD51C and RAD51D (ovarian cancer).

According to the research study published in Clinical Cancer Research 2020, COVID-19 is expected to reshape the oncology practice, clinical trials, diagnostics, and delivery of cancer care to the patients, which can endure well beyond the short- to mid-term of the active pandemic, and thus, COVID-19 is expected to impact the market over the pandemic era.

The increasing burden of cancers worldwide and the growing awareness among the global population on preventive diagnosis and personalized medicine are the major factors driving the cancer segment market over the forecast period. As per Globocan 2020, the incidence of new cancer cases was estimated to be 19,292,789 in 2020, with nearly 9,958,133 deaths due to cancers. Additionally, the new cancer incidence is estimated to reach 30.2 million by 2040, as per the International Agency for Research on Cancer (IARC). Thus, the genetic tests aid in providing information on whether cancer runs in the family and the risk factors associated with the development of cancers in future among the individuals with a family history of cancers. Also, genetic testing is performed in patients who do not respond to chemotherapy, to identify the presence of acquired mutations in tumors that are resistant to therapy.

Also, the increasing technological advancements and product launches are expected to drive the studied segment. For instance, in December 2020, Roche launched the Cobas PIK3CA Mutation Test for the detection of PIK3CA mutations in patients with advanced or metastatic breast cancer. Thus, because of the aforementioned factors, the cancer segment is expected to witness significant growth over the forecast period.

 Genetic Testing Market Key Trends

North America Captured the Largest Market Share and is Expected to Retain its Dominance Over the Forecast Period

North America dominates the market for genetic testing currently, owing to factors, like increasing demand for personalized genetic testing services in the region and the rise in the prevalence of chronic and genetic disorders.

According to the Globocon 2020, the new cancer cases diagnosed were 2,281,658 in the United States in 2020, with 612,390 deaths. Among all cancers, breast cancer had the highest incidence with 253,465 cases, followed by lung (227,875), prostate (209,512), and colon (101,809).

According to the Centers for Disease Control and Prevention (CDC), most clinics and hospitals have restricted in-person delivery of non-essential healthcare services, including genetic counseling, to minimize the transmission of coronavirus. However, deferring the genetic counseling can impose difficulties, because if genetic testing is not performed on time, it would affect the decision-making during pregnancy or about cancer treatment. Hence, though the studied market is presently slowed down due to the ongoing pandemic, the situation is expected to improve gradually.

The increasing product approvals by the US Food and Drug Administration (FDA) and subsequent launches, along with the high concentration of key players involved in research activities for the innovation of novel genetic testing products, are anticipated to drive the market growth in North America. For instance, in November 2020, Foundation Medicine Inc. received the US FDA approval for its liquid biopsy next-generation sequencing-based FoundationOne Liquid CDx test as a companion diagnostic device for the identification of multiple biomarkers in cancers. Additionally, in August 2020, Dana Farber Cancer Institute launched the Center for BRCA and Related Genes for the prevention and treatment of BRCA related cancers. Thus, in view of the growing cancer incidence and strategies taken ahead by key players in the region, the genetic testing market is expected to grow significantly over the forecast period in North America.

 Genetic Testing Market Growth Rate

Competitive Landscape

The genetic testing market is highly competitive and consists of several major players. In terms of market share, a few of the major players currently dominate the market. The presence of major market players, such as Abbott Laboratories, BioRad Laboratories Inc., F Hoffmann-La Roche, and Illumina Inc., is increasing the overall competitive rivalry of the market. The product advancements and improvements in genetic testing platforms by the major players are increasing competitive rivalry. Additionally, the key players are involved in strategic alliances, such as acquisitions and partnerships, with companies that complement their product portfolio to expand their presence globally. For instance, in September 2020, Illumina Inc. entered into a definitive agreement to acquire GRAIL to expand the portfolio: transformative multi-cancer screening test (based on next-generation sequencing (NGS)).

Recent Developments

In November 2020, the Food and Drug Administration (FDA) expanded the approval of a cancer blood test, "liquid biopsy", that detects genetic changes in tumor DNA in the blood and can help match patients to potential treatments.

In August 2020, the FDA approved Guardant360 CDx of Guardant Health and FoundationOne Liquid CDx of Foundation Medicine, for use as a companion diagnostic test and for general tumor profiling.

Table of Contents


    1. 1.1 Study Assumptions and Market Definition

    2. 1.2 Scope of the Study




    1. 4.1 Market Overview

    2. 4.2 Market Drivers

      1. 4.2.1 Increasing Emphasis on Early Disease Detection and Prevention

      2. 4.2.2 Growing Demand for Personalized Medicine

      3. 4.2.3 Increasing Application of Genetic Testing in Oncology

    3. 4.3 Market Restraints

      1. 4.3.1 High Costs of Genetic Testing

      2. 4.3.2 Social and Ethical Implications of Genetic Testing

    4. 4.4 Porter's Five Forces Analysis

      1. 4.4.1 Threat of New Entrants

      2. 4.4.2 Bargaining Power of Buyers/Consumers

      3. 4.4.3 Bargaining Power of Suppliers

      4. 4.4.4 Threat of Substitute Products

      5. 4.4.5 Intensity of Competitive Rivalry


    1. 5.1 By Type

      1. 5.1.1 Carrier Testing

      2. 5.1.2 Diagnostic Testing

      3. 5.1.3 New-born Screening

      4. 5.1.4 Predictive and Presymptomatic Testing

      5. 5.1.5 Prenatal Testing

      6. 5.1.6 Other Types

    2. 5.2 By Disease

      1. 5.2.1 Alzheimer's Disease

      2. 5.2.2 Cancer

      3. 5.2.3 Cystic Fibrosis

      4. 5.2.4 Sickle Cell Anemia

      5. 5.2.5 Duchenne Muscular Dystrophy

      6. 5.2.6 Thalassemia

      7. 5.2.7 Huntington's Disease

      8. 5.2.8 Rare Diseases

      9. 5.2.9 Other Diseases

    3. 5.3 By Technology

      1. 5.3.1 Cytogenetic Testing

      2. 5.3.2 Biochemical Testing

      3. 5.3.3 Molecular Testing

    4. 5.4 Geography

      1. 5.4.1 North America

        1. United States

        2. Canada

        3. Mexico

      2. 5.4.2 Europe

        1. Germany

        2. United Kingdom

        3. France

        4. Italy

        5. Spain

        6. Rest of Europe

      3. 5.4.3 Asia-Pacific

        1. China

        2. Japan

        3. India

        4. Australia

        5. South Korea

        6. Rest of Asia-Pacific

      4. 5.4.4 Middle East and Africa

        1. GCC

        2. South Africa

        3. Rest of Middle East and Africa

      5. 5.4.5 South America

        1. Brazil

        2. Argentina

        3. Rest of South America


    1. 6.1 Company Profiles

      1. 6.1.1 23&Me Inc.

      2. 6.1.2 Abbott Laboratories

      3. 6.1.3 Myriad Genetics Inc.

      4. 6.1.4 Danaher Corporation

      5. 6.1.5 Illumina Inc.

      6. 6.1.6 Luminex Corporation

      7. 6.1.7 BioRad Laboratories Inc.

      8. 6.1.8 PerkinElmer Inc.

      9. 6.1.9 Quest Diagnostics Incorporated

      10. 6.1.10 F. Hoffmann-La Roche Ltd

      11. 6.1.11 Eurofins Scientific

      12. 6.1.12 Qiagen NV

    2. *List Not Exhaustive

**Subject to Availability
**Competitive Landscape Covers - Business Overview, Financials, Products and Strategies, and Recent Developments

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Frequently Asked Questions

The Global Genetic Testing Market market is studied from 2018 - 2026.

The Global Genetic Testing Market is growing at a CAGR of 10.45% over the next 5 years.

Asia Pacific is growing at the highest CAGR over 2021- 2026.

North America holds highest share in 2020.

Abbott Laboratories , Danaher Corporation (Cepheid Inc.), Illumina Inc., BioRad Laboratories Inc., F Hoffmann-La Roche AG are the major companies operating in Global Genetic Testing Market.

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