According to a new report published by Introspective Market Research, titled, “Human Genetics Market by Test Type, Application, and End-User,” The Global Human Genetics Market Size Was Valued at USD 35.22 Billion in 2024 and is Projected to Reach USD 108.82 Billion by 2035, Growing at a CAGR of 10.80%. The Human Genetics Market is experiencing rapid growth as the demand for genetic testing, precision medicine, and advanced diagnostics continues to rise worldwide. Human genetics focuses on understanding DNA, gene mutations, inherited disorders, and genomic variations to enhance disease prediction, prevention, and treatment outcomes. With advancements in sequencing technologies, genetic tests have become more affordable, faster, and accessible, enabling widespread adoption across clinics, laboratories, and research institutes.
Moreover, increasing awareness of hereditary diseases, expanding applications in oncology and rare disease research, and the global shift toward personalized healthcare are accelerating market expansion. Biotechnology and pharmaceutical industries are heavily investing in genomic research to develop targeted therapies, gene editing tools, and biomarker-driven drug discovery pipelines. This is positioning the Human Genetics Market as one of the fastest-growing segments within the life sciences industry.
A major factor driving the Human Genetics Market is the growing global prevalence of chronic and inherited diseases, which has increased the demand for early diagnosis and genetic screening. With rising cases of cancer, cardiovascular disorders, and rare diseases, healthcare providers are adopting genetic testing to identify predispositions and guide personalized treatment plans. Additionally, continuous improvements in next-generation sequencing (NGS), reduced sequencing costs, and expanded insurance coverage for genetic testing have enabled broader adoption. Governments and health authorities are also encouraging population-wide genomic initiatives, further accelerating market growth.
A significant opportunity lies in the expanding application of human genetics in precision medicine and drug development. Pharmaceutical companies are increasingly leveraging genetic insights to design targeted therapies, optimize clinical trials, and improve drug efficacy. Emerging markets, such as Asia-Pacific and Latin America, present substantial growth prospects due to rising healthcare investments, development of genomic databases, and increasing awareness of personalized medicine. Furthermore, advancements in CRISPR gene editing, AI-driven genomic analytics, and direct-to-consumer (DTC) testing provide promising avenues for innovation and market expansion over the next decade.
Human Genetics Market, Segmentation
Test Type
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The Test Type segment is further classified into Diagnostic Testing, Predictive Testing, Carrier Testing, Prenatal & Newborn Testing, and Others.
- Among these, the Diagnostic Testing sub-segment accounted for the highest market share in 2024. Diagnostic testing leads due to its essential role in identifying genetic disorders, cancer mutations, and inherited conditions. It is widely used in clinical settings to detect diseases early and guide targeted therapy decisions. The growing use of NGS-based diagnostic panels, coupled with increasing demand for personalized oncology solutions, strengthens its dominance. Expanding reimbursement coverage and rising awareness of early disease detection also contribute significantly to this segment's long-term growth.
Application
- The Application segment is further classified into Oncology, Rare Diseases, Pharmacogenomics, Infectious Diseases, and Others.
- Among these, the Oncology sub-segment accounted for the highest market share in 2024. Genetic testing in oncology has become vital for detecting cancer-causing mutations, assessing hereditary cancer risk, and selecting targeted treatments. The rising global burden of cancer, increasing adoption of liquid biopsy, and advancements in tumor genomic profiling support strong market penetration. Precision oncology programs and companion diagnostic development by pharmaceutical companies further reinforce the dominance of this segment in the Human Genetics Market.
Some of the Leading/Active Market Players Are
- Illumina Inc. (U.S.)
- Thermo Fisher Scientific Inc. (U.S.)
- Agilent Technologies Inc. (U.S.)
- F. Hoffmann-La Roche Ltd. (Switzerland)
- BGI Group (China)
- Qiagen N.V. (Netherlands)
- Eurofins Scientific (Luxembourg)
- Invitae Corporation (U.S.)
- Myriad Genetics Inc. (U.S.)
- PerkinElmer Inc. (U.S.)
- 23andMe Inc. (U.S.)
- Regeneron Genetics Center (U.S.)
- Oxford Nanopore Technologies (U.K.)
- GeneDx (U.S.)
- Centogene N.V. (Germany)
- other active players.
Key Industry Developments
- In March 2024, Illumina announced advancements in its NGS platforms, introducing higher-throughput systems aimed at reducing sequencing costs and improving clinical diagnostic speed. The update strengthens Illumina’s commitment to enhancing global genomic accessibility.
- In September 2023, Thermo Fisher partnered with major oncology research institutions to develop new companion diagnostic tests based on genomic biomarkers. This collaboration aims to accelerate precision medicine adoption and enhance treatment response prediction capabilities.
Key Findings of the Study
- Diagnostic Testing and Oncology emerged as dominant segments in 2024.
- North America remains the leading region driven by advanced genomic infrastructure.
- Growth is strongly supported by rising demand for personalized medicine and population-wide genomic programs.
- NGS advancements and reduced sequencing costs significantly accelerate market expansion.
- Emerging markets provide substantial opportunities for future growth.
