Genetic Testing Market to Reach US$ 54.21 Billion by 2033 | CAGR 15.4% | North America Leads with 38% Share | Key Players: Illumina, Abbott Laboratories, Danaher

Market Overview

The global genetic testing market reached US$ 14.72 billion in 2024 and is projected to grow to US$ 54.21 billion by 2033, reflecting a CAGR of 15.4% during the forecast period 2025-2033. Genetic testing involves diagnostic tests that analyze DNA, RNA, or proteins to detect genetic conditions, hereditary diseases, and assess the risk of future health issues. The market encompasses a wide range of test types, including carrier testing, diagnostic testing, predictive testing, prenatal testing, and pharmacogenomics.

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The growth of genetic testing is fueled by its ability to support personalized medicine, enabling healthcare providers to tailor treatment strategies to individual genetic profiles. By identifying genetic predispositions and enabling early diagnosis, genetic testing improves patient outcomes, guides the selection of optimal therapies, and helps avoid adverse drug reactions. Its expanding applications across clinical diagnostics, disease prevention, drug development, and personalized healthcare are driving the adoption of genetic testing globally.

Recent Developments:

✅ August 2024: Nonacus launched the GALEAS Tumor test, a comprehensive genomic profiling (CGP) solution that uses next-generation sequencing (NGS) to analyze tumor genetics. The test integrates bioinformatics and analysis software, enabling clinicians to detect genetic mutations associated with various cancers, including rare and complex tumors such as brain cancers.

✅ June 2025: Myriad Genetics launched early access to its FirstGene Multiple Prenatal Screen, advancing prenatal and genetic testing innovation.

✅ June 2025: GeneDx announced plans to acquire Fabric Genomics for up to USD 51 million to enhance decentralized genetic testing with AI‐driven data interpretation capabilities.

✅ May 2025: Gene Solutions partnered with NEWCL Biomedical Laboratory in Taiwan to establish a next-generation sequencing (NGS) facility, expanding prenatal and oncology testing services in the Asia-Pacific region.

✅ 2024-2025: Illumina unveiled the Billion Cell Atlas, a large-scale dataset aimed at accelerating AI-powered drug discovery and disease research.

✅ 2024: Bio-Rad Laboratories introduced the ddSEQTM Single‐Cell 3' RNA‐Seq Kit and updated Omnition v1.1 software to enhance single-cell transcriptome analysis capabilities.

✅ September 2025: Myriad Genetics collaborated with SOPHiA GENETICS to develop a global liquid biopsy companion diagnostic (CDx) test, combining advanced testing with broad international deployment.

Mergers & Acquisitions:

✅ 2025 (Planned): Regeneron Pharmaceuticals agreed to acquire 23andMe for approximately US$256 million, gaining control of the consumer DNA testing company's genetic services, biobank, and personal genome database.

✅ December 2025: Natera, Inc. completed the acquisition of Foresight Diagnostics, expanding its molecular residual disease (MRD) technology and solid tumor genetic testing portfolio.

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Key Players:
Abbott Laboratories | Bio-Rad Laboratories Inc. | Illumina Inc. | Myriad Genetics Inc. | Danaher Corporation | Quest Diagnostics Incorporated | MedGenome | LabCorp | 3billion, Inc. | Blueprint Genetics

Key Highlights:

• Abbott Laboratories - Holds 12% share, providing genetic testing solutions for infectious diseases, oncology, and prenatal screening.

• Bio-Rad Laboratories Inc. - Holds 10% share, offering PCR-based and other molecular diagnostic tools for clinical and research applications.

• Illumina Inc. - Holds 18% share, a global leader in sequencing platforms and next-generation genomic analysis.

• Myriad Genetics Inc. - Holds 9% share, specializing in hereditary cancer testing, prenatal diagnostics, and companion diagnostics.

• Danaher Corporation - Holds 11% share, operating through subsidiaries like Cepheid and SCIEX, delivering genomics and molecular diagnostics solutions.

• Quest Diagnostics Incorporated - Holds 8% share, providing diagnostic testing services, including clinical genetic tests and pharmacogenomics.

• MedGenome - Holds 4% share, focusing on genomics-based diagnostics and personalized medicine in Asia-Pacific markets.

• LabCorp - Holds 6% share, offering comprehensive clinical genetic testing and laboratory services globally.

• 3billion, Inc. - Holds 3% share, delivering NGS-based diagnostic solutions with AI-assisted variant interpretation.

• Blueprint Genetics - Holds 3% share, specializing in rare disease testing, comprehensive NGS panels, and exome sequencing.

Market Segmentation:

By Type, Diagnostic Testing leads with approximately 35% of the market, driven by the growing need for early disease detection and personalized treatment strategies. Carrier Testing accounts for 20%, popular among couples planning pregnancies to identify genetic risks. Forensic Testing represents around 10%, used in criminal investigations and paternity testing. Newborn Screening holds 15%, supporting early detection of congenital disorders, while Other Testing Types make up the remaining 20%.

By Sample Type, Blood dominates with roughly 50%, due to its widespread use in clinical and research genetic tests. Saliva accounts for 25%, preferred for non-invasive sample collection. Hair constitutes around 10%, often used in ancestry and specific genomic analyses. Other sample types, including amniotic fluid and tissue biopsies, make up 15%.

By Technology, Biochemical Genetic Testing leads with approximately 40%, widely applied in clinical diagnostics. Chromosomal Genetic Testing accounts for 30%, used for detecting chromosomal abnormalities such as Down syndrome. Other Technologies, including molecular genetic testing and next-generation sequencing (NGS), hold 30%, reflecting their rapid adoption in research and advanced diagnostics.

By Disease Type, Cancer dominates with 30%, due to rising prevalence and demand for personalized oncology therapies. Rare Diseases account for 20%, reflecting increasing focus on orphan disease diagnostics. Cystic Fibrosis and Thalassemia each hold around 10%, Alzheimer's Disease around 5%, Sickle Cell Anemia 5%, Duchenne Muscular Dystrophy 5%, and Huntington's Disease 5%, with Other diseases comprising the remaining 10%.

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Regional Insights:

North America leads the genetic testing market with around 38% share, driven by advanced healthcare infrastructure, high adoption of genetic diagnostics, and significant R&D investment in genomics and personalized medicine.

Europe holds approximately 25%, supported by stringent regulatory frameworks, widespread availability of genetic testing services, and increasing focus on precision medicine and rare disease diagnosis.

Asia-Pacific accounts for about 28%, fueled by rising healthcare spending, growing awareness of genetic disorders, expansion of molecular diagnostic laboratories, and increasing prenatal and oncology testing.

Market Dynamics:

Drivers: The increasing prevalence of genetic disorders and chronic diseases is a key factor driving growth in the genetic testing market. Conditions such as cystic fibrosis, sickle cell anemia, and Huntington's disease are being diagnosed more frequently, fueling demand for advanced genetic testing solutions. For instance, approximately 1,000 new cases of cystic fibrosis are reported annually, creating a need for early and accurate diagnosis. Early detection through genetic testing enables healthcare providers to design personalized treatment plans, improving patient outcomes and potentially reducing long-term healthcare costs. In addition, the rising incidence of chronic diseases such as cancer, diabetes, and cardiovascular conditions is further increasing demand, with surveys indicating that 17% of Americans have undergone genetic testing, and 52% express interest in these tests. These trends highlight the market's strong growth potential.

Restraints: The high cost of genetic tests and sequencing technologies remains a major barrier to widespread adoption. Despite technological advancements like next-generation sequencing (NGS), the expense of these tests can make them unaffordable for many individuals, especially in underserved populations across developed and emerging markets. High costs may limit access to testing for disease risk assessment, prenatal screening, and personalized medicine, reducing overall demand and slowing market growth. Consequently, pricing challenges could constrain the global genetic testing market's potential despite rising awareness and clinical need.

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