Global Human Genetics Market Growth, Share, Size, Trends and Forecast (2025 - 2031)
By Application;
Wellness & E-Commerce, Preventive Medicine, and Diagnostic & Treatment.By Human Genetics Test;
NIPT, Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS, and Others.By Geography;
North America, Europe, Asia Pacific, Middle East and Africa, and Latin America - Report Timeline (2021 - 2031).Introduction
Global Human Genetics Market (USD Million), 2021 - 2031
In the year 2024, the Global Human Genetics Market was valued at USD 33,664.50 million. The size of this market is expected to increase to USD 86,592.98 million by the year 2031, while growing at a Compounded Annual Growth Rate (CAGR) of 14.5%.
Human genetics, a field integral to understanding genetic variations, hereditary diseases, and personalized medicine, has witnessed profound advancements in recent years. These advancements are driven by breakthroughs in genomic technologies, such as next-generation sequencing (NGS), CRISPR gene editing, and bioinformatics, which have revolutionized our ability to decode the human genome and unravel its complexities.
This market plays a pivotal role in diagnosing and managing genetic disorders, predicting disease risks, and tailoring treatments based on individual genetic profiles. Genetic testing and counseling services are increasingly integrated into mainstream healthcare, offering insights into inherited conditions and enabling proactive health management. Moreover, genetic research fuels innovation across diverse sectors, including pharmaceuticals, biotechnology, and academic research, driving the development of novel therapies and precision medicine approaches.
Key drivers of growth in the Global Human Genetics Market include rising incidences of genetic disorders, advancements in personalized medicine, and increasing adoption of genetic testing for disease prevention and early intervention. The market is characterized by a multitude of stakeholders, including biopharmaceutical companies, research institutions, healthcare providers, and genetic testing laboratories, each contributing to the expanding applications of human genetics in clinical practice and scientific discovery. As technological capabilities continue to evolve and regulatory frameworks adapt to support genomic medicine, the Global Human Genetics Market is poised for further expansion. Innovations in genomic sequencing, genetic biomarkers, and therapeutic targeting are expected to drive market growth, offering new avenues for disease management and personalized healthcare solutions globally.
Global Human Genetics Market Recent Developments
-
In October 2021, Igenomix launched a non-invasive prenatal genetic screening test used for the detection of chromosomal abnormalities.
-
In 2021, Eversana assisted GENinCode in gaining entry to the US market for its portfolio of polygenic cardiovascular disease treatments, which were primarily focused on hereditary risk. GENinCode had announced its agreement with Eversana as its launch and commercialization partner.
-
In 2019, in the field of oncology, Myriad Genetics and Illumina had formed a strategic alliance. As part of the strategic partnership between Myriad and Illumina, there was a time-limited exclusive agreement for Illumina to provide a kit-based version of the myChoice CDx test for international markets.
Segment Analysis
The Global Human Genetics Market is experiencing significant growth, driven by advancements in genetic testing and an increasing demand for personalized healthcare solutions. The market is segmented by application into Wellness & E-Commerce, Preventive Medicine, and Diagnostic & Treatment. Wellness & E-Commerce applications are gaining momentum, particularly with the rise of direct-to-consumer genetic testing kits sold online, enabling individuals to gain insights into their genetic predispositions for various health conditions, lifestyle choices, and ancestry. Preventive medicine focuses on identifying genetic risk factors that can lead to early interventions and the prevention of diseases, fostering a proactive approach to health management. Diagnostic & Treatment applications are central to the human genetics market, where genetic testing is used to diagnose genetic disorders and inform treatment decisions, particularly in oncology, cardiology, and rare genetic conditions, facilitating targeted therapies and personalized care.
The market is also segmented by human genetics tests, which include NIPT (Non-Invasive Prenatal Testing), Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS (Next-Generation Sequencing), and Others. NIPT is a non-invasive method used to detect fetal genetic abnormalities, such as Down syndrome, and is widely used in prenatal care. Carrier testing helps identify individuals who may carry genes for inherited diseases, allowing for informed family planning decisions. Pharmacogenomic testing is crucial for personalized medicine, as it helps determine how an individual’s genetic makeup affects their response to specific medications, ensuring more effective and safe treatment regimens. Karyotype testing is used to analyze chromosomes, identifying structural or numerical abnormalities that can cause genetic disorders. Thrombophilia testing is used to detect genetic predispositions to blood clotting disorders, guiding appropriate treatment and prevention strategies. Septin 9 biomarker testing is used for early detection of colorectal cancer, providing a less invasive option compared to traditional methods. NGS, a revolutionary technology, enables high-throughput genetic sequencing and comprehensive analysis of an individual's genome, offering in-depth insights into genetic mutations and disease risks. Other tests include various specialized genetic assays tailored to specific conditions or diseases. Together, these applications and tests are driving the evolution of the human genetics market, improving early diagnosis, preventive care, and treatment outcomes, while expanding the scope of genetic testing across various healthcare domains.
Global Human Genetics Segment Analysis
In this report, the Global Human Genetics Market has been segmented by Application, Human Genetics Test and Geography.
Global Human Genetics Market, Segmentation by Application
The Global Human Genetics Market has been segmented by Application into Wellness & E-Commerce, Preventive Medicine, and Diagnostic & Treatment.
Wellness & E-Commerce is rapidly growing, driven by the increasing popularity of direct-to-consumer genetic testing kits sold online. These kits allow individuals to learn about their genetic predispositions to various health conditions, lifestyle factors, and ancestry, empowering them to make informed health decisions. Preventive medicine plays a crucial role in the market, as genetic testing is used to identify individuals at risk for certain diseases, enabling early interventions and lifestyle adjustments to prevent or delay the onset of genetic disorders. This proactive approach is increasingly integrated into personal healthcare plans. The Diagnostic & Treatment application is the largest segment, where genetic tests are critical for diagnosing genetic disorders, determining disease risk, and informing personalized treatment strategies. These tests are widely used in oncology, rare diseases, cardiology, and pharmacogenomics, helping tailor treatments to an individual’s genetic makeup for more effective and targeted healthcare solutions. Together, these applications are expanding the reach and impact of human genetics, enhancing both preventive and personalized healthcare.
Global Human Genetics Market, Segmentation by Human Genetics Test
The Global Human Genetics Market has been segmented by Human Genetics Test into NIPT, Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS, and Others.
NIPT (Non-Invasive Prenatal Testing) is widely used for detecting genetic abnormalities in a fetus, such as Down syndrome, through a simple blood test, offering a safer alternative to invasive procedures. Carrier testing identifies individuals who may carry genes for inherited conditions, aiding in family planning decisions. Pharmacogenomic testing helps determine how a person’s genetic makeup influences their response to medications, enabling personalized treatment plans for more effective and safer therapies. Karyotype testing analyzes an individual’s chromosomes for structural abnormalities or mutations, which can lead to genetic disorders. Thrombophilia testing identifies genetic risk factors for blood clotting disorders, allowing for preventive measures and personalized treatment strategies. Septin 9 biomarker testing is a screening method for early detection of colorectal cancer, offering a non-invasive option for patients. NGS (Next-Generation Sequencing) is a high-throughput technology that enables comprehensive genomic analysis, identifying genetic mutations and predispositions to various diseases, and is becoming a cornerstone of precision medicine. The "Others" category includes various specialized genetic tests tailored to specific conditions or diseases, further expanding the scope of genetic testing applications in healthcare. Together, these tests contribute significantly to personalized medicine, early disease detection, and the development of targeted treatments.
Global Human Genetics Market, Segmentation by Geography
In this report, the Global Human Genetics Market has been segmented by Geography into five regions; North America, Europe, Asia Pacific, Middle East and Africa and, Latin America.
Global Human Genetics Market Share (%), by Geographical Region, 2024
North America is dominating the human genetics market and will continue the same during the forecast period. This can be attributed to the increasing investment by governmental organizations in genetic research, rising awareness regarding personalized medicine, technological advancement, and expanding the healthcare sector. The U.S. is the largest human genetics market on account of the increasing cases of genetic disorders, extensive research activities in human genetics, and the growing adoption of genetic-based treatment in the healthcare sector. The country has the presence of leading players in the market, including Illumina, Inc., Affymetrix Inc., Bio-Rad Laboratories Inc., Agilent Technologies, GE Healthcare, Cepheid Inc., and Danaher Corporation.
The European human genetics market is driven by the increased prevalence of multiple chronic genetic disorders and rising government funding for performing extensive research activities. In Germany, the market is majorly driven by technological advancement and the increasing R&D activities performed by the leading players to sustain in the raging competition. The Asia Pacific is expected to witness the fastest growth during the forecast period on account of developing healthcare infrastructure and increasing demand for genetics for the diagnosis, treatment, and prognosis of various genetic disorders, including diabetes, cancer, downs syndrome, and sickle cell anemia. In the region, India and China are the major contributors to the human genetics market. Recently, the ‘Genome Asia 100 K’ (GA 100 K) was developed in the region and is aimed at sequencing around 100,000 Asian genomes to accelerate the advancements in precision medicine.
South America is expected to witness remarkable growth on account of the growing burden of chronic genetic diseases, increasing demand for personalized drugs, rising adoption of blood screening for the detection of mutations in RNA or DNA, and rising prevalence of hematological malignancies, including bone marrow cancer and blood cancer. Moreover, the emergence of new genetic diagnosis technology and increasing emphasis on developing new molecular genetic technologies, such as Real-Time PCR and Comparative Genetic Hybridization, is boosting the market growth in the region.
Market Trends
This report provides an in depth analysis of various factors that impact the dynamics of Global Human Genetics Market. These factors include; Market Drivers, Restraints and Opportunities Analysis.
Drivers, Restraints and Opportunity Analysis
Drivers
- Increasing Prevalence of Genetic Disorders
- Expanding Research Activities in Genetics
-
Growing Applications in Personalized Medicine- Personalized medicine utilizes genetic information to predict disease risk, determine optimal therapies, and optimize treatment outcomes based on a patient's genetic makeup. Advances in genomic technologies, such as next-generation sequencing (NGS) and genome-wide association studies (GWAS), enable comprehensive analysis of genetic variations linked to disease susceptibility and drug response. This precision approach enhances diagnostic accuracy, minimizes adverse effects, and improves patient adherence to therapy, thereby optimizing healthcare delivery and outcomes.
In oncology, personalized medicine utilizes genetic profiling to identify specific mutations driving tumor growth, guiding targeted therapies that directly address the molecular drivers of cancer. Genetic tests for hereditary cancers, such as BRCA mutations in breast and ovarian cancer, empower clinicians to recommend preventive measures and personalized screening protocols for at-risk individuals. Additionally, pharmacogenomics integrates genetic data with drug metabolism profiles to customize medication regimens based on individual genetic variations, enhancing therapeutic efficacy and safety. The expansion of personalized medicine is bolstered by collaborative efforts between healthcare providers, pharmaceutical companies, and research institutions to develop and validate biomarkers that predict treatment response and disease progression. These partnerships drive innovation in genetic testing technologies, bioinformatics tools, and data analytics platforms essential for interpreting complex genomic data. Regulatory initiatives supporting genomic medicine, such as the FDA's approval of companion diagnostics, further catalyze market growth by facilitating the integration of genetic tests into clinical practice.
The increasing adoption of electronic health records (EHRs) and telemedicine platforms enhances accessibility to genetic testing services, enabling healthcare providers to remotely deliver personalized care and genetic counseling services. Patient empowerment and engagement in healthcare decisions are also amplified through direct-to-consumer (DTC) genetic testing services, which offer insights into ancestry, wellness traits, and genetic predispositions to common diseases.
Restraints
- Complexity of Genetic Data Interpretation
-
Data Privacy and Security Concerns- As the collection, storage, and analysis of genetic data become more prevalent in healthcare and research, ensuring the privacy and confidentiality of this sensitive information is paramount. Patients and research participants express apprehension about potential breaches of confidentiality, unauthorized access, and misuse of their genetic data, which can lead to discrimination, stigmatization, and loss of autonomy.
Regulatory frameworks such as the General Data Protection Regulation (GDPR) in Europe and the Health Insurance Portability and Accountability Act (HIPAA) in the United States mandate stringent guidelines for the protection of personal health information, including genetic data. Compliance with these regulations imposes additional costs and administrative burdens on healthcare providers, research institutions, and genetic testing companies. Moreover, the global nature of genetic research and healthcare collaboration necessitates adherence to varying data protection laws across different jurisdictions, complicating data management and sharing practices. Furthermore, advancements in genomic technologies and the proliferation of direct-to-consumer genetic testing services exacerbate data privacy concerns. Consumers often lack awareness of how their genetic information may be used beyond initial testing purposes, raising ethical dilemmas about consent and data ownership. Healthcare providers and researchers face challenges in implementing robust data security measures, including encryption, secure data transmission, and access controls, to safeguard genetic data from cyber threats and unauthorized disclosure.
Addressing data privacy and security concerns requires collaboration among stakeholders, including policymakers, healthcare providers, researchers, and technology developers. Investments in secure infrastructure, encryption technologies, and adherence to best practices in data governance are crucial to building trust and ensuring responsible use of genetic data. Moreover, transparent communication with patients and research participants about data handling practices, rights to access and control genetic information, and potential risks is essential in promoting informed decision-making and enhancing public confidence in genetic research and healthcare services.
Opportunities
- Advancements in Genomic Technologies
- Expanding Applications in Oncology and Rare Diseases
-
Biopharmaceutical Collaborations and Research Initiatives- The Global Human Genetics Market, catalyzing advancements in genomic medicine, therapeutic development, and personalized healthcare. These collaborations involve partnerships between biopharmaceutical companies, academic institutions, research organizations, and healthcare providers to leverage genetic insights for innovative solutions in disease management and drug discovery. Such collaborations facilitate the translation of genetic discoveries into clinical applications. By pooling expertise and resources, biopharmaceutical firms and research institutions can accelerate the development of targeted therapies tailored to individual genetic profiles. For example, identifying genetic biomarkers associated with specific diseases allows for the development of precision medicines that are more effective and have fewer side effects than conventional treatments. This approach not only improves patient outcomes but also enhances the cost-effectiveness of healthcare delivery by reducing trial-and-error prescribing.
Research initiatives supported by these collaborations expand the understanding of genetic predispositions and disease mechanisms. Large-scale genomic studies, such as genome-wide association studies (GWAS) and population-based genetic research projects, generate vast amounts of data on genetic variations and their implications for health and disease. Biopharmaceutical companies leverage this data to identify novel therapeutic targets, validate drug candidates, and prioritize research investments based on genetic insights. Moreover, biopharmaceutical collaborations drive innovation in genomic technologies and diagnostic tools. Advances in next-generation sequencing (NGS), CRISPR gene editing, and bioinformatics enable more precise and efficient genetic analysis. These technologies not only facilitate the discovery of rare genetic variants but also support the development of companion diagnostics that guide treatment decisions based on individual genetic profiles. Such diagnostic innovations are crucial in oncology, where genetic testing informs targeted therapy selection, and in rare diseases, where early diagnosis can significantly impact patient outcomes.
Competitive Landscape Analysis
Key players in Global Human Genetics Market include:
- Agilent Technologies
- Bode Technology
- GE Healthcare
- Illumina
- LGC Forensics
- Orchid Cellmark, Inc.
- Promega Corporation
In this report, the profile of each market player provides following information:
- Company Overview and Product Portfolio
- Key Developments
- Financial Overview
- Strategies
- Company SWOT Analysis
- Introduction
- Research Objectives and Assumptions
- Research Methodology
- Abbreviations
- Market Definition & Study Scope
- Executive Summary
- Market Snapshot, By Application
- Market Snapshot, By Human Genetics Test
- Market Opportunity Map
- Global Human Genetics Market Dynamics
- Drivers, Restraints and Opportunities
- Drivers
-
Increasing Prevalence of Genetic Disorders
-
Expanding Research Activities in Genetics
-
Growing Applications in Personalized Medicine
-
- Restraints
-
Complexity of Genetic Data Interpretation
-
Data Privacy and Security Concerns
-
- Opportunities
-
Advancements in Genomic Technologies
-
Expanding Applications in Oncology and Rare Diseases
-
Biopharmaceutical Collaborations and Research Initiatives
-
- Drivers
- PEST Analysis
- Political Analysis
- Economic Analysis
- Social Analysis
- Technological Analysis
- Porter's Analysis
- Bargaining Power of Suppliers
- Bargaining Power of Buyers
- Threat of Substitutes
- Threat of New Entrants
- Competitive Rivalry
- Drivers, Restraints and Opportunities
- Market Segmentation
- Global Human Genetics Market, By Application, 2021 - 2031 (USD Million)
- Wellness & E-Commerce
- Preventive Medicine
- Diagnostic & Treatment
- Global Human Genetics Market, By Human Genetics Test, 2021 - 2031 (USD Million)
- NIPT
- Carrier Testing
- Pharmacogenomic Testing
- Karyotype Testing
- Thrombophilia Testing
- Septin 9 Biomarker Testing
- NGS
- Others
- Global Human Genetics Market, By Geography, 2021 - 2031 (USD Million)
- North America
- United States
- Canada
- Europe
- Germany
- United Kingdom
- France
- Italy
- Spain
- Nordic
- Benelux
- Rest of Europe
- Asia Pacific
- Japan
- China
- India
- Australia & New Zealand
- South Korea
- ASEAN (Association of South East Asian Countries)
- Rest of Asia Pacific
- Middle East & Africa
- GCC
- Israel
- South Africa
- Rest of Middle East & Africa
- Latin America
- Brazil
- Mexico
- Argentina
- Rest of Latin America
- North America
- Global Human Genetics Market, By Application, 2021 - 2031 (USD Million)
- Competitive Landscape
- Company Profiles
-
Agilent Technologies
-
Bode Technology
-
GE Healthcare
-
Illumina
-
LGC Forensics
-
Orchid Cellmark, Inc.
-
Promega Corporation
-
- Company Profiles
- Analyst Views
- Future Outlook of the Market