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Genetic Testing Market Size

ID: MRFR//1477-CR | 150 Pages | Author: Rahul Gotadki| February 2021

Healthcare expenditure worldwide is on a continuous rise, with notable increases in regions like the Americas and Europe over the past few decades. According to the Centers for Medicare & Medicaid Services, in 2015, the United States witnessed a 5.8% surge in healthcare spending, reaching a staggering USD 3.2 trillion. The trend continued in North America in 2016. The US economy, as reported by the International Monetary Fund (IMF), grew by 1.6% in the same year. However, changes in regulatory policies affected research and development (R&D) investment, with 2016's R&D spending at 527.5 billion declining in 2017. Healthcare reforms, including the Affordable Care Act in 2010, led to increased insurance coverage, further contributing to the expansion of healthcare spending in the US. Additionally, in 2016, healthcare organizations were relieved of a special tax on medical devices, according to the Medical Device Excise Tax Act of 2013.

In the UK and Germany, healthcare spending saw a slight increase, with Western Europe emphasizing cost-saving measures due to modest financial growth and persistent economic pressure. The Organization for Economic Co-operation and Development (OECD) reported that Germany spent EUR 321 billion on healthcare in 2014, while France and the UK recorded expenditures of EUR 237 billion and EUR 223 billion, respectively, in the same year. Government support in Europe has led to a rise in investments in research and development, accounting for a 20.8% share of global R&D spending in 2017, according to Eurostat R&D magazine. The surge in healthcare expenditure serves as a catalyst for market growth, particularly in the field of genetic testing, which has witnessed significant advancements in recent decades. Numerous companies are actively engaged in developing diagnostic tests for various genetic diseases. Major players like Abbott Laboratories, Bio-Rad Laboratories, Illumina Inc., Myriad Genetics, PerkinElmer Inc., Qiagen N.V., and Quest Diagnostics are contributing to the market by developing diverse tests, kits, assays, and medical devices for genetic testing. In 2017, Bio-Rad, in collaboration with Illumina Inc., introduced the Single Cell Sequencing Solution, a groundbreaking Next Generation Sequencing (NGS) workflow for single-cell analysis. This innovation enables researchers to explore the coordinated contributions of individual cells in tissue function, disease progression, and therapeutic response. Illumina Inc. also launched TruSight Tumor 15 in 2015, a next-generation sequencing (NGS) panel designed to identify sequence variants in 15 genes commonly associated with marketed therapeutics. These technological advancements in products and tests are driving the growth of the genetic testing market, showcasing the industry's commitment to innovation and improved diagnostics.

Covered Aspects:

Report Attribute/Metric Details
Market Size Value In 2022 USD 8.91 Billion
Growth Rate 10.5% (2022-2032)

Genetic Testing Market Overview


The genetic testing market size was valued at USD 17.17 billion in 2023 is projected to grow from USD 18.97 Billion in 2024 to USD 42.68 billion by 2032, exhibiting a compound annual growth rate (CAGR) of 10.7% during the forecast period (2024 - 2032). The rising incidence of hereditary and chronic illnesses and the development of cutting-edge testing tools are the key market drivers enhancing market growth are the key market drivers enhancing the market growth.


Genetic Testing Market1


Genetic Testing Market Trends



  • Advancements in genetic testing  techniques to boost market growth


The development of next-generation sequencing and chromosomal microarray analysis, which transform the identification of chromosomal structural and numerical abnormalities and, in turn, help identify a variety of rare genomic and genetic disorders, are examples of technological advancements in genetic testing. In addition, Roche introduced FoundationOne Liquid, a blood-based genetic profiling test, in September 2019. The 70 most often altered genes in solid tumors and microsatellite instability can be found using this assay. Additionally, Myriad Genetics, Inc. declared in May 2020 that the FDA had authorized BRACAnalysis CDx for use as a companion diagnostic test by medical professionals to find people with metastatic pancreatic cancer who have a germline BRCA mutation and are candidates for treatment with PARP (poly ADP ribose polymerase) inhibitor. The development of significant leading players' genetic testing products is anticipated to act as a driving force for the cytogenetic market throughout the forecast period.


Technology advancements have also improved test accuracy and allowed doctors to examine various genetic data sets simultaneously. By approving new ways for the market, many nations are facilitating their adoption. For example, the United States Food and Drug Administration approved the first test to identify Fragile X Syndrome (FXS), one of the primary causes of inherited developmental delay and intellectual disability, in February 2021.


Thus, the market for genetic testing is anticipated to experience significant growth over the forecast period due to the rising burden of chronic diseases, technological improvements, and the trend toward customized therapy. Therefore, such conditions have enhanced the Genetic Testing market CAGR globally in recent years.


However, positive government programs to encourage genetic testing are another factor driving the market revenue of the Genetic Testing.


Genetic Testing Market Segment Insights


Genetic Testing Method Insights


The genetic testing market segmentation, based on Method, includes molecular genetic tests/ DNA tests, chromosomal and biochemical tests, and others. The molecular genetic tests/ DNA tests segment held the majority share in 2021, contributing to around ~45% of the market revenue of genetic testing. The widespread use of this method in genetic tests is responsible for the segment's supremacy. Additionally, the segmental expansion will be fueled by the technological superiority of this technique, such as quicker turnaround times and the recent trend of falling next-generation sequencing (NGS) costs.


Genetic Testing Type Insights


The genetic testing market data has been bifurcated by Type into prescribed genetic testing and direct-to-consumer genetic testing. The prescribed genetic testing segment dominated the market in 2021 and is projected to be the faster-growing segment during the forecast period, 2024-2032. By providing details on a person's chromosomes and genetic variations, predictive and presymptomatic testing has become popular for identifying potential hazards in the future. Comparatively speaking, the predictive genetic test is a revolutionary approach quickly growing as a genetic test in medical settings, particularly in developed countries. It is increasingly used to direct several illnesses' training methods and dietary plans.


Figure 2: Genetic testing market, by Type, 2021 & 2032 (USD Million)


Genetic testing market, by Type, 2021 & 2032


Source: Secondary Research, Primary Research, MRFR Database and Analyst Review


Direct-to-consumer genetic testing was the fastest-growing segment. In nations including the US, China, and Japan, direct-to-consumer genetic testing kits are gaining popularity. The market for DTC-GT (Direct-to-Consumer Genetic Testing) kits is anticipated to expand rapidly over the forecast period due to rising technological adoption, awareness campaigns, and cost reductions.


Genetic Testing Application Insights


Based on Application, the global genetic testing industry has been segmented into reproductive health, cancer screening ancestry, predictive and presymptomatic testing, and others. Cancer Screening Ancestry held the largest segment share in 2021; by 2032. Genetic testing aids in determining a person's lifetime risk of contracting cancer. It achieves this by checking for specific alterations in a person's genes, chromosomes, or proteins. We refer to these alterations as mutations.


The fastest-growing segment in the genetic testing industry is Pred reproductive health. New diagnostic procedures, therapies, or interventions to delay the onset of disease or lessen its severity have been made possible by advances in our understanding of the mechanisms underlying genetic disease.


Genetic Testing Regional Insights


By Region, the study provides market insights into North America, Europe, Asia-Pacific, and Rest of the World. North America, Genetic Testing market accounted for USD 3.51 billion in 2021 and is expected to exhibit a significant CAGR growth during the study period. The market continues to expand due to North America's important contribution to patient awareness of genetic illnesses. For instance, America observed a month-long awareness campaign for sickle cell anemia in September 2020. Additionally, the bulk of large players is concentrated in this area, which is crucial for expanding the genetic testing industry.


Further, the major countries studied in the market report are The U.S., Canada, Germany, France, the UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil.


Figure 3: GENETIC TESTING MARKET SHARE BY REGION 2021 (%)


GENETIC TESTING MARKET SHARE BY REGION 2021


Source: Secondary Research, Primary Research, MRFR Database and Analyst Review


Europe's Genetic Testing market accounts for the second-largest market share. This results from patients becoming more informed about hereditary diseases such as cystic fibrosis, cancer, and thalassemia. The 100,000 Genomes Project and other genomics initiatives carried out by research organizations in this region also contribute to the expansion of the genetic testing business. Further, the Germany market of genetic testing held the largest market share, and the UK market of genetic testing was the fastest-growing market in the European region.


The Asia-Pacific market of genetic testing is expected to grow at the fastest CAGR from 2022 to 2032. the region's developing healthcare system, a sizable patient base combined with an increase in the use of cutting-edge genomics technologies, an increase in the prevalence of numerous chronic conditions, and the decreasing cost of genomic testing. Moreover, China market of genetic testing held the largest market share, and the India market of genetic testing was the fastest-growing market in Asia-Pacific.


Genetic Testing Key Market Players & Competitive Insights


Major market players are spending a lot of money on R&D to increase their product lines, which will help the market of genetic testing grow even more. Market participants are also taking a range of strategic initiatives to grow their worldwide footprint, with key market developments such as new product launches, contractual agreements, mergers and acquisitions, increased investments, and collaboration with other organizations. Competitors in the Genetic Testing industry must offer cost-effective items to expand and survive in an increasingly competitive and rising market environment.


Manufacturing locally to cut operational costs is one of the main business tactics used by manufacturers in the worldwide Genetic Testing industry to benefit customers and increase the market sector. The genetic testing industry has recently given medicine some of the most important advantages. The major market player of genetic testing such as Prenetics Group Limited, Illumina,and others are working to expand the market demand by investing in research and development activities.


Prenetics is a provider of genetic and diagnostic health tests that uses DNA sequencing technology to assist in discovering health hazards. In June 2022, One of the industry pioneers in genomic and diagnostic testing, Prenetics Group Limited, unveiled ColoClear by Circle (ColoClear), a revolutionary, non-invasive at-home screening test for identifying colorectal cancer's early warning symptoms.


Also, Illumina strives to analyze genomic variation and function using cutting-edge technology and assays. It emphasizes clients and promotes cooperative interactions and quick solution delivery. The creation of molecular diagnostics for use in the clinic, drug discovery, and disease research are all made possible by Illumina's array-based solutions for DNA, RNA, and protein analysis. May 2022, A company specializing in genome sequencing called Illumina recently introduced a cancer test in Europe that examines a large number of tumor genes in a single tissue sample, potentially assisting patients with uncommon disorders in finding appropriate treatments.


Key Companies in the Genetic Testing market includes



  • PerkinElmer Inc. (US)

  • Myriad Genetics Inc. (US)

  • Abbott Laboratories (US)

  • Illumina Inc. (US)

  • QIAGEN (Germany)

  • Eurofins Scientific (US)

  • Quest Diagnostics Incorporated (US)

  • Hoffmann-La Roche Ltd (Switzerland)

  • Thermo Fisher Scientific Inc. (US)


Genetic Testing Industry Developments


April 2022: Cemiplimab antibodies have been made available by Bio Laboratories, Inc a market leader in life science research and clinical diagnostic products. These antibodies prevent the medicine from binding to its intended target, human-programmed death receptor-1. These pre-made antibodies can be used to create sensitive and specific assays for the bioanalysis and medication monitoring of cemiplimab.


April 2021: The Invitae Corporation has announced that patients in the United States, Canada, Australia, and Brazil at risk of acquiring several common adult neurodegenerative disorders can now get their sponsored genetic testing. The free availability of this service will benefit at-risk persons with challenging-to-diagnose diseases.


Genetic Testing Market Segmentation


Genetic Testing Type Outlook



  • Molecular Genetic Tests/ DNA Tests

  • Chromosomal Genetic Tests

  • Biochemical Genetic Tests

  • Others


Genetic Testing Type Outlook



  • Prescribed Genetic Testing

  • Direct-to-Consumer Genetic Testing


Genetic Testing Application Outlook



  • Reproductive Health

  • Cancer Screening Ancestry

  • Predictive and Pre-Symptomatic Testing

  • Others


Genetic Testing Regional Outlook



  • North America

    • US

    • Canada



  • Europe

    • Germany

    • France

    • UK

    • Italy

    • Spain

    • Rest of Europe



  • Asia-Pacific

    • China

    • Japan



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