Genetic Testing Market Accelerates with Rising Adoption of Genomic Profiling in Oncology

The genetic testing market is entering a new era of widespread adoption and technological innovation. According to DataM Intelligence, the global market reached US$ 14.72 billion in 2024 and is forecast to surge to US$ 54.21 billion by 2033, expanding at a 15.4% compound annual growth rate (CAGR) over 2025-2033. Consumer demand for early diagnosis, the rise of direct to consumer (DTC) testing, and breakthroughs in next generation sequencing (NGS) are the major forces propelling this market forward.

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Executive Summary

➠ Global Market (2024): US$ 14.72 billion
➠ Projected (2033): US$ 54.21 billion at 15.4% CAGR
➠ Latest Trend: Integration of multiomic platforms-combining genomics, transcriptomics, and proteomics-is enabling more comprehensive disease risk panels for early detection and personalized care.
➠ Key Driver: Precision Medicine Momentum - growing physician adoption of genomic profiling to guide targeted therapies across oncology and rare diseases is a critical growth lever.

Market Overview

Genetic testing encompasses diagnostic, carrier, prenatal, newborn screening, pharmacogenomic, and forensic assays that analyze DNA, RNA, or proteins to detect hereditary conditions, disease predispositions, and inform personalized treatment plans. Falling sequencing costs, streamlined laboratory workflows, and supportive reimbursement policies have democratized access to genetic insights.

Key Market Drivers & Growth Opportunities

∎ Precision Medicine Momentum:
The shift toward tailored therapies has made genetic profiling indispensable. Physicians increasingly rely on genomic data to match patients with targeted drugs, driving adoption across oncology, rare diseases, and cardiology.

∎ Direct to Consumer (DTC) Expansion:
Explosion in at home testing kits for ancestry, nutrigenomics, and health risk assessments-growing at an estimated 12% CAGR-is broadening the consumer base and normalizing genetic screening.

∎ Next Generation Sequencing Advances:
Innovations in NGS platforms have reduced per genome costs by over 90% in the last decade, enabling multi gene panels and whole exome sequencing at price points viable for routine clinical use.

∎ Lab Developed Test (LDT) Clarity:
The May 30, 2025 court decision vacating the FDA's LDT Final Rule reaffirmed CMS oversight for laboratory developed tests-providing regulatory certainty for clinical labs and fostering test pipeline growth.

∎ Emerging Biomarkers & Multi Omics:
Integration of genomics with transcriptomics, proteomics, and metabolomics is unlocking new diagnostic panels for early cancer detection and chronic disease risk stratification.

∎ Strategic Collaborations & M&A:
Partnerships between biotech firms, academic institutions, and health systems are accelerating test development, clinical validation, and market penetration, especially in high growth regions.

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Genetic Testing Market Segments:

By Type (Carrier Testing, Diagnostic Testing, Forensic Testing, New-born Screening, Others)
By Sample (Blood, Hair, Saliva, Others)
By Technology (Biochemical Genetic Testing, Chromosomal Genetic Testing, Others)
By Disease (Alzheimer's Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntington's Disease, Rare Diseases, Other)

Regional Insights

North America (United States):

The US commands the largest share, with a robust pipeline of LDTs and NGS based assays. Underscores continued investment in oncology diagnostics and preventive screening. Key enablers include expanded CMS reimbursement for NGS in solid tumors and growing integration of genomic data in electronic health records.

Asia Pacific (Japan Focus):

Japan's market, is expected to reach at a promising CAGR by 2033 as precision medicine initiatives mature and population genomics studies advance. Public-private programs like the Tohoku Medical Megabank's sequencing of 100,000 genomes have positioned Japan at the forefront of large scale genomic data generation.

Market Players:

Abbott Laboratories, Bio-Rad Laboratories Inc., Illumina Inc., Myriad Genetics Inc., Danaher Corporation, Quest Diagnostics Incorporated, MedGenome, LabCorp, 3billion, Inc., and Blueprint Genetics, among others.

Latest Industry Trends & News

United States:

On May 30, 2025, the FDA opted not to appeal the court's vacatur of its Lab Developed Test Final Rule, definitively assigning LDT oversight to CMS under CLIA. This decision removes regulatory uncertainty and accelerates the introduction of novel genetic assays.

Japan:

On May 29, 2025, DataM Intelligence highlighted Japan's pivot toward genetic testing as a cornerstone of preventive healthcare in a super aged society, emphasizing consumer awareness and precision medicine adoption. Concurrently, the Tohoku Medical Megabank Organization announced the completion of 100,000 genome sequences, marking a milestone in Japan's national genomics strategy.

Conclusion & Future Outlook

The genetic testing market is on a trajectory to exceed US$ 54 billion by 2033, fueled by precision medicine, direct to consumer trends, and technological breakthroughs. Regulatory clarity in the US and large scale genomics initiatives in Japan further bolster long term growth prospects. Stakeholders who capitalize on emerging sequencing platforms, forge strategic alliances, and navigate evolving reimbursement landscapes will be best positioned to deliver next generation diagnostics and unlock the full potential of personalized healthcare.

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