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
Study Period: 2019-2027
Base Year: 2021
Fastest Growing Market: Asia Pacific
Largest Market: North America
CAGR: 10.81 %
genetic testing market size

Need a report that reflects how COVID-19 has impacted this market and its growth?

Market Overview

The genetic testing market is expected to register a CAGR of nearly 10.81% during the forecast period (2022-2027).

The COVID-19 pandemic has left a significant impact on the growth of the genetic testing market over the crisis. According to the study titled "The impact of the emergence of COVID‐19 on women's prenatal genetic testing decisions" published in Prenatal Diagnosis in march 2021, the COVID19 pandemic may influence pregnant women's decisions about prenatal genetic testing. Patients' access to and use of prenatal genetic tests may be impacted by the pandemic. However, genetics testing for the COVID-19 diagnosis increased during the pandemic. 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 World Health Organization Report in October 2021, By 2030, one out of every six people on the planet will be 60 years old or older. The number of people aged 60 and up is expected to rise from 1 billion in 2020 to 1.4 billion by 2050. By 2050, the global population of people aged 60 and up will have doubled (2.1 billion). Between 2020 and 2050, the number of people aged 80 and up is expected to triple, reaching 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 July 2021, Avellino Labs announced the launch of AvaGen, the Genetic Eye Test, in the United States which is designed to help determine a patient's risk of keratoconus and other corneal dystrophies. Thus, such initives by the key market players anticipated to drive the growth of the market.

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 market report also covers the estimated market sizes and trends for 17 different countries across major regions, globally. 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

Report scope can be customized per your requirements. Click here.

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 article published in Genetics in Medicine 2021 by M. Mummmen, all the clinical genetic testing was restricted, and telemedicine-based consultations and counseling were adopted globally and 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. This might have further impacted the market growth during the pandemic.

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. according to the American Cancer Society in July 2021, In 2021, 1,898,160 new cancer cases and 608,570 cancer deaths are projected to occur in the United States. 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 August 2021, Myriad Genetics has launched polygenic breast cancer risk assessment Score (MyRisk Hereditary Cancer test with RiskScore), globally including Latin America, validated for women of all ancestries and expanded access to genetic testing.​ This test makes easier to understand the current and possible complications of the genetic disorder. Hence, it is widely accepted as a suitable approach for genetic testing.​ Thus, because of the aforementioned factors, the cancer segment is expected to witness significant growth over the forecast period.

genetic testing market share

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 October 2021, F. Hoffmann-La Roche Ltd has launched AVENIO Tumor Tissue CGP Kit​ a comprehensive genomic profiling kit to make tailored cancer research more accessible.​ This kit  provides comprehensive genomic profiling of solid tumors from formalin-fixed paraffin-embedded (FFPE) tissue samples. ​ Additionally, acquisition and expansion are one of the key reasons for the development of the carrier testing segment in the Latin America region. For instance, in June 2021, Eurofins acquired DNA Diagnostics Center to extend its genetic testing capabilities and join the consumer testing industry. 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 report

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. In September 2021, MedGenome Labs launched its direct-to-consumer category under the brand name Genessense which will offer specialized, evidence-based genetic screening tests that can be ordered online through the Genessense website or via e-commerce platforms in the future.

Recent Developments

  • In June 2022, Prenetics Group Limited one of the a leader in genomic and diagnostic testing has introduced a novel, non-invasive, at-home screening test - ColoClear by Circle (ColoClear), for detecting early signs of colorectal cancer.
  • In March 2022, Genome sequencing group Illumina launched a cancer test in Europe that checks for a wide range of tumor genes in one tissue sample, potentially helping patients with rare diseases to be matched up with treatment options.

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

  5. 5. MARKET SEGMENTATION (Market Size by Value - USD Million)

    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 DiaSorin Spa (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

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

You can also purchase parts of this report. Do you want to check out a section wise price list?

Frequently Asked Questions

The Global Genetic Testing Market market is studied from 2019 - 2027.

The Global Genetic Testing Market is growing at a CAGR of 10.81% over the next 5 years.

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

North America holds highest share in 2021.

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.

80% of our clients seek made-to-order reports. How do you want us to tailor yours?

Please enter a valid email id!

Please enter a valid message!