Targeted DNA Sequencing is the fastest growing segment, North America is the largest regional market
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Key Market Drivers
The increasing global burden of genetic disorders and cancer represents a primary driving force behind the expansion of the Global Targeted Sequencing Market. The critical need for precise diagnostic tools and methods for disease characterization fuels the demand for targeted sequencing, which offers highly accurate and in-depth analysis of specific genomic regions relevant to these conditions.This technology enables earlier detection, guides personalized treatment strategies, and facilitates monitoring for recurrence or treatment response in oncology and rare disease settings. According to the World Health Organization, in February 2024, global cancer estimates for 2022 revealed approximately 20 million new cancer cases and 9.7 million deaths, highlighting the pervasive nature of this disease and the continuous requirement for advanced diagnostic solutions. Furthermore, targeted sequencing is instrumental in identifying the underlying genetic causes of rare diseases, which collectively affect millions worldwide.
Key Market Challenges
A significant challenge impeding the growth of the Global Targeted Sequencing Market is the absence of standardized guidelines and a unified consensus regarding the multitude of next-generation sequencing platforms and techniques. This fragmented landscape directly complicates widespread clinical adoption and the crucial processes of securing reimbursement for these advanced diagnostic tests. The lack of uniform standards creates ambiguity in test validation, interpretation, and reporting across different laboratories and healthcare providers.This absence of standardization contributes to inconsistent payer policies, as each insurer may establish varying evidentiary requirements for assessing clinical utility, leading to unpredictable coverage and payment decisions. For instance, according to the College of American Pathologists, a 2.5% reduction in payment for pathology services, which includes molecular diagnostics, is anticipated starting January 2025, reflecting ongoing pressures on reimbursement and the complexities in valuing these intricate tests. Such financial uncertainty directly deters broader integration of targeted sequencing into routine clinical practice, limiting patient access to these critical diagnostic tools and consequently hindering overall market expansion.
Key Market Trends
Artificial intelligence and machine learning integration is profoundly transforming genomic data interpretation within targeted sequencing. These advanced computational methods are essential for efficiently analyzing the vast and complex datasets generated, enabling the rapid identification of subtle genetic variants and their clinical implications. This capability significantly enhances diagnostic precision and facilitates the development of personalized therapeutic approaches. Reflecting this growing importance, according to Roche, in April 2025, the company committed $50 billion over five years to its US pharmaceutical and diagnostics operations, including the establishment of a new research and development center focused on artificial intelligence research. This strategic investment highlights the industry’s reliance on AI to convert genomic information into actionable clinical intelligence.Key Market Players Profiled:
- MGI Tech Co., Ltd
- GENEWIZ Inc
- Agilent Technologies, Inc.
- Daicel Arbor Biosciences
- Danaher Corporation
- Illumina, Inc.
- LGC Biosearch Technologies
- Pacific Biosciences of California Inc
- CD Genomics
- F. Hoffmann-La Roche Ltd
Report Scope:
In this report, the Global Targeted Sequencing Market has been segmented into the following categories:By Product Type:
- Kits/Panels and Assays
- Instruments
- Other
By Target Capture Type:
- Targeted DNA Sequencing
- Targeted RNA Sequencing
- Others
By Target Enrichment Method:
- Amplicon Sequencing
- Hybridization Capture
- Others
By End Users:
- Academic and Research Institution
- Pharmaceutical and Biotech Companies
- Diagnostic & Clinical Laboratories
- Other
By Application:
- Oncology
- Infectious Diseases
- Cardiovascular Diseases
- Reproductive Health
- Rare Diseases
- Neurological Disorders
- Hereditary Diseases
- Others
By Region:
- North America
- Europe
- Asia-Pacific
- South America
- Middle East & Africa
Competitive Landscape
Company Profiles: Detailed analysis of the major companies present in the Global Targeted Sequencing Market.Available Customizations:
With the given market data, the publisher offers customizations according to a company's specific needs. The following customization options are available for the report.Company Information
- Detailed analysis and profiling of additional market players (up to five).
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Table of Contents
Companies Mentioned
The companies profiled in this Targeted Sequencing market report include:- MGI Tech Co., Ltd
- GENEWIZ Inc
- Agilent Technologies, Inc.
- Daicel Arbor Biosciences
- Danaher Corporation
- Illumina, Inc.
- LGC Biosearch Technologies
- Pacific Biosciences of California Inc
- CD Genomics
- F. Hoffmann-La Roche Ltd
Table Information
| Report Attribute | Details |
|---|---|
| No. of Pages | 185 |
| Published | November 2025 |
| Forecast Period | 2024 - 2030 |
| Estimated Market Value ( USD | $ 3.9 Billion |
| Forecasted Market Value ( USD | $ 7.33 Billion |
| Compound Annual Growth Rate | 11.1% |
| Regions Covered | Global |
| No. of Companies Mentioned | 11 |


