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Human Genetics Market Research Report Information by Application (Wellness & E-Commerce, Preventive Medicine, Diagnostic & Treatment), by Test (NIPT, Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS, Others) And By Region (North America, Europe, Asia-Pacific, And Rest Of The World) –Market Forecast Till 2032


ID: MRFR/HC/0243-CR | 169 Pages | Author: Kinjoll Dey| February 2022

Global Human Genetics Market Overview


Human Genetics Market Size was valued at USD 25.9 Billion in 2022. The Human Genetics market industry is projected to grow from USD 28.69Billion in 2023 to USD 65.18 Billion by 2032, exhibiting a compound annual growth rate (CAGR) of 10.80% during the forecast period (2023 - 2032).Growing demand for personalized medicine, rising research activities in genomics, increasing investments in genomics and genetic testing companies, rising prevalence of genetic disorders, advances in genomic technologies, are the key market drivers enhancing the market growth. 


Human Genetics Market


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


Using genomic tools in therapeutic settings has also altered human genetics as a scientific discipline. More people now have access to more affordable genetic testing, allowing for earlier and more accurate diagnosis of hereditary diseases. Genetic information is now being used to guide treatment decisions, pinpoint causes of disease, and determine the most effective medications and dosing schedules for individual patients. The advent of personalized medicine, in which care is tailored to an individual's genetic makeup, is made possible by these technological advancements. Hence, fueling economic growth in the Human Genetics industry.


There are only a handful of places where human genetics has been put to use so far. On the other hand, prosperous expansion is anticipated in the years to come. With the help of computational biology, we'll have plenty of room to keep track of all the genetic data we collect from people all around the world. Furthermore, as human genetics finds more and more uses in molecular diagnostic testing, market players may expect to see a sizable increase in income.


The need for gene therapy is rising rapidly because of the alarming rise in the incidence of genetic illnesses around the world. To respond, scientists in R&D and forensics labs are digging deep into human DNA to discover new, more effective treatments for a wide range of illnesses. The project has the backing of governments around the world, which are spending extensively in the human genetics industry to raise public knowledge of genetic illnesses, available therapies, and their impact on daily life.


July 2023: An analysis of 13 research by the National Institutes of Health showed that taking a "genotype-first" approach to patient care was beneficial, especially for diagnosing uncommon illnesses. This method aids in the identification of previously unknown gene-disease associations, broadens our understanding of previously characterized illnesses, and sheds light on emerging pathologies.


Human Genetics Market Trends



  • Modernization of genomic technologies is driving the market growth


The Human Genetics Market has seen a radical transformation as a result of advances in genomic technology, which have completely changed how genetic data is analysed, comprehended, and used. Our knowledge of the human genome and its implications for the diagnosis, treatment, and prevention of disease has been greatly improved by this technologies.The creation and widespread use of next-generation sequencing (NGS) technologies is one of the most important developments. In comparison to conventional sequencing techniques, NGS enables researchers to rapidly and inexpensively sequence substantial volumes of genetic material. The ability to examine complete genomes, find disease-causing mutations, and find novel genetic variants linked to diverse illnesses has been made possible thanks to a significant increase in the speed and efficiency of genetic analysis.


In the field of human genetics, the development of CRISPR-Cas9 gene editing technology has likewise revolutionised research. The precise and targeted gene editing capabilities of CRISPR-Cas9 provide previously unheard-of chances for therapeutic interventions and potential treatments for hereditary disorders. Now that genetic sequences can be changed, mutations can be fixed, and the functional implications of certain gene changes can be studied, new opportunities for personalised medicine and gene therapies are now available.


High-throughput genotyping techniques have also become more popular in human genetics research. These platforms allow for the simultaneous investigation of thousands or even millions of genetic markers, revealing important information about population genetics, disease risk factors, and complicated genetic features. Genome-wide association studies (GWAS) that uncover genetic variations linked to prevalent diseases have been considerably enhanced by high-throughput genotyping, opening the door to better risk prediction, early identification, and individualised treatment approaches. Additionally, the management and interpretation of the enormous volumes of genetic data produced by these technologies have been made possible by advances in data processing and bioinformatics tools. The huge genetic information may be searched for patterns, correlations, and possible treatment targets thanks to sophisticated computing algorithms and machine learning approaches. This has facilitated the creation of more efficient diagnostics and therapies by accelerating the discovery of biomarkers, pharmacological targets, and genetic pathways implicated in diseases. The science of human genetics has also changed as a result of the incorporation of these genomic technologies into clinical practise. Genetic testing is becoming more widely available and more reasonably priced, enabling earlier and more precise detection of genetic illnesses. Clinicians can now use genetic data to influence therapy choices, identify illness risk factors, and select the best drugs and dosage schedules for specific patients. These technical developments have enabled the shift to personalised medicine, where treatment plans are customised to a patient's genetic profile. Thus, driving the Human Genetics market revenue.


Human Genetics Market Segment Insights


Human Genetics Application Insights


The Human Genetics market segmentation, based on Application includes Wellness & E-Commerce, Preventive Medicine and Diagnostic & Treatment. The diagnostic & treatment segment dominated the market, accounting for 46.25% of market revenue. Due to its crucial role in clinical decision-making and therapeutic treatments, the Diagnostic & Treatment subsegment is projected to dominate the market.


Figure 1: Human Genetics Market, by Application, 2022 & 2032 (USD Billion) 


Human Genetics Market


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


Human Genetics Test Insights


The Human Genetics market segmentation, based on Test, includes NIPT, Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS, Others. The NIPT category generated the most income of 33.42%. Considering it is non-invasive and has a high degree of accuracy, NIPT has become increasingly popular.


July 2023: Novartis Espana, a division of the world's largest pharmaceutical company, and DBGen Ocular Genomics, a spinoff of the University of Barcelona, have formed a partnership that will allow patients with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) to identify their underlying genetic causes by July 2023. Using mass sequencing of gene panels produced by the UB spin-off, DBGen Ocular Genomics and Novartis will be able to reliably determine the genetic basis of these two diseases.


July 2023: Scientists at the Centre for Cellular and Molecular Biology (CCMB) in an Indian city have created Optical Genome Mapping (OGM), a state-of-the-art, extremely costly next-generation genetic testing tool, in July 2023. Using OGM, genetic defects in humans can be identified with high accuracy. The term "New Generation Cytogenetics" was used to describe


Human Genetics Regional Insights


By region, the study provides the market insights into North America, Europe, Asia-Pacific and Rest of the World. The North America Human Genetics Market dominated this market in 2022 (45.80%). The increasing popularity of personalised medicine and the high prevalence of genetic illnesses both support North America's market dominance. Further, the U.S. Human Genetics market held the largest market share, and the Canada Armor Materials market was the fastest growing market in the North America region.


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


Figure 2: Human Genetics Market Share by Region 2022 (USD Billion)


Human Genetics Market


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


Europe Human Genetics market accounts for the second-largest market share. Leading genomics businesses are present, precision medicine is becoming more of a focus, and regulatory frameworks are supportive of market expansion. Further, the German Human Genetics market held the largest market share, and the UK Human Genetics market was the fastest growing market in the European region


The Asia-Pacific Human Genetics Market is expected to grow at the fastest CAGR from 2023 to 2032. The market is expected to increase as a result of the area's huge population base, growing awareness of genetic illnesses, and government measures to support genomics research and precision medicine. Moreover, China’s Human Genetics market held the largest market share, and the Indian Human Genetics market was the fastest growing market in the Asia-Pacific region.


Human Genetics Key Market Players & Competitive Insights


Leading market players are investing heavily in research and development in order to expand their product lines, which will help the Human Genetics market, grow even more. Market participants are also undertaking a variety of strategic activities to expand their footprint, with important market developments including new product launches, contractual agreements, mergers and acquisitions, higher investments, and collaboration with other organizations. To expand and survive in a more competitive and rising market climate, Human Genetics industry must offer cost-effective items.


Manufacturing locally to minimize operational costs is one of the key business tactics used by manufacturers in the Human Genetics industry to benefit clients and increase the market sector. In recent years, the Human Genetics industry has offered some of the most significant advantages to medicine. Major players in the Human Genetics market, including Myriad Genetics (US), Synlab Group (Germany), Eurofins Megalab S.A (Spain), Biomarker Technology (US), Echevarne Laboratory (Spain), Elabscience Biotechnology Inc (US), NIMGenetics (Spain), Sistemas GenĂłmicos (Spain), FullGenomics (Spain), GENinCode (UK), Atrys Health (Spain), and others, are attempting to increase market demand by investing in research and development operations.


Myriad Genetics, based in the United States, is a leading company in the Human Genetics Market. Founded in 1992, the business specialises in solutions for personalised medicine and genetic testing. Myriad Genetics provides a variety of genetic tests that aid in illness risk assessment, diagnosis, and therapy choice, with a major emphasis on oncology, hereditary diseases, and reproductive health. The BRAC Analysis test, the company's main product, is well-known for determining the risk of hereditary breast and ovarian cancer brought on by mutations in the BRCA1 and BRCA2 genes. Myriad Genetics has increased the number of genetic tests available in its test portfolio, such as Vectra DA for rheumatoid arthritis, GeneSight Psychotropic, and my Risk Hereditary Cancer. These tests offer insightful data about disease propensity, treatment effectiveness, and personalised medicine strategies.


Biomarker Technology, based in the United States, is a prominent company operating in the Human Genetics Market. Biomarker Technology, a company founded with the goal of enhancing biomarker research and development, focuses on the discovery and validation of genetic and protein-based biomarkers for a variety of illnesses and ailments. In order to facilitate the conversion of biomarker research into clinical applications, the company provides a variety of services and solutions. Their proficiency in genomes, proteomics, and bioinformatics enables them to create state-of-the-art tools and platforms for the discovery, verification, and use of biomarkers. To aid in the development of personalised medical methods, Biomarker Technology works with pharmaceutical companies, academic institutions, and research organizations. They make use of their skills to support the creation of companion diagnostics, biomarker analysis, and clinical trial design.


Key Companies in the Human Genetics market include



  • Myriad Genetics (US)

  • Synlab Group (Germany)

  • Eurofins Megalab S.A (Spain)

  • Biomarker Technology (US)

  • Echevarne Laboratory (Spain)

  • Elabscience Biotechnology Inc (US)

  • NIMGenetics (Spain)

  • Sistemas GenĂłmicos (Spain)

  • FullGenomics (Spain)

  • GENinCode (UK)

  • Atrys Health (Spain)


Human Genetics Industry Developments


2021-Eversana will assist GENinCode in gaining entry to the US market for its portfolio of polygenic cardiovascular disease treatments, which are primarily focused on hereditary risk. GENinCode announced its agreement with Eversana as its launch and commercialization partner.


2019-In the field of oncology, Myriad Genetics and Illumina has formed a strategic alliance.A time-limited exclusive agreement for Illumina to provide a kit-based version of the myChoice CDx test for international markets is part of the strategic partnership between Myriad and Illumina.


Human Genetics Market Segmentation


Human Genetics Application Outlook



  • Wellness & E-Commerce

  • Preventive Medicine

  • Diagnostic & Treatment


Human Genetics Test Outlook



  • NIPT

  • Carrier Testing

  • Pharmacogenomic Testing

  • Karyotype Testing

  • Thrombophilia Testing

  • Septin 9 Biomarker Testing

  • NGS

  • Others


Human Genetics Regional Outlook




  • North America

    • U.S.

    • Canada




  • Europe

    • Germany

    • France

    • UK

    • Italy

    • Spain

    • Rest of Europe




  • Asia-Pacific

    • China

    • Japan

    • India

    • Australia

    • South Korea

    • Australia

    • Rest of Asia-Pacific




  • Rest of the World

    • Middle East

    • Africa

    • Latin America



Report Attribute/Metric Details
Market Size 2022 USD 25.9 Billion
Market Size 2023 USD 28.69Billion
Market Size 2032 USD 65.18Billion
Compound Annual Growth Rate (CAGR) 10.80% (2023-2032)
Base Year 2022
Market Forecast Period 2023-2032
Historical Data 2018- 2022
Market Forecast Units Value (USD Billion)
Report Coverage Revenue Forecast, Market Competitive Landscape, Growth Factors, and Trends
Segments Covered Application, Test, and Region
Geographies Covered North America, Europe, Asia Pacific, and the Rest of the World
Countries Covered The U.S., Canada, German, France, UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil
Key Companies Profiled Myriad Genetics (US), Synlab Group (Germany), Eurofins Megalab S.A (Spain), Biomarker Technology (US), Echevarne Laboratory (Spain), Elabscience Biotechnology Inc (US), NIMGenetics (Spain), Sistemas GenĂłmicos (Spain), FullGenomics (Spain), GENinCode (UK), Atrys Health (Spain)
Key Market Opportunities Developments in Gene Therapy and Gene Editing
Key Market Dynamics The industry is being driven by increased education and awareness of the human genetics market.


Frequently Asked Questions (FAQ) :

The Human Genetics market size was valued at USD 25.9 Billion in 2022.

The market is projected to grow at a CAGR of 10.80% during the forecast period, 2023-2032.

North America had the largest share in the market

The key players in the market are Myriad Genetics (US), Synlab Group (Germany), Eurofins Megalab S.A (Spain), Biomarker Technology (US), Echevarne Laboratory (Spain), Elabscience Biotechnology Inc (US), NIMGenetics (Spain), Sistemas Genómicos (Spain), FullGenomics (Spain), GENinCode (UK), Atrys Health (Spain).

The Diagnostic & Treatment category dominated the market in 2022.

The NIPT (Non-Invasive Prenatal Testing) had the largest share in the market.

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