Targeted Sequencing and Resequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2021-2031

The Global Targeted Sequencing And Resequencing Market is projected to expand from USD 6.26 Billion in 2025 to USD 8.88 Billion by 2031, registering a CAGR of 6.01%. By focusing on isolating and analyzing specific genomic regions, these techniques provide high-depth, accurate variant identification, serving as a cost-efficient alternative to whole-genome sequencing. Growth is fueled largely by the increasing incidence of cancer and genetic conditions, which drives the need for precise diagnostics to guide therapeutic choices. Additionally, the rapid advancement of drug development in precision oncology, where genomic data is essential for patient stratification, supports this demand. As noted by the Personalized Medicine Coalition in 2024, the FDA's approval of 26 new personalized medicines in 2023 indicates strong demand for the targeted diagnostics needed to direct these treatments.

However, the market encounters substantial hurdles related to bioinformatics and data interpretation. The massive quantities of complex data produced by high-throughput sequencing demand sophisticated computational infrastructure and specialized skills to convert raw genetic findings into practical clinical insights. This requirement creates a significant bottleneck, impeding the wider adoption of these technologies in settings with limited resources.

Market Drivers

The accelerated adoption of precision medicine and personalized therapies is fundamentally reshaping the Global Targeted Sequencing And Resequencing Market, particularly within the oncology sector. As clinicians increasingly prioritize genomic profiling to tailor treatments, the demand for targeted panels that can identify specific mutations - such as EGFR or BRCA - has surged to unprecedented levels.

This shift is necessitated by the growing global burden of disease, which requires scalable and precise diagnostic solutions to manage patient care effectively. For instance, according to the American Cancer Society, in 2024, the United States is projected to exceed 2 million new cancer cases for the first time, underscoring the critical need for advanced genomic tools. Consequently, diagnostic providers are witnessing a rapid uptake of their targeted oncology assays to meet this expanding clinical need. According to Natera, Inc., August 2024, in the 'Second Quarter 2024 Financial Results', the company performed approximately 125,400 oncology tests in the second quarter of 2024, representing a significant 50.2% increase compared to the same period in the previous year.

Concurrently, the emergence of liquid biopsy applications for non-invasive monitoring is expanding the market's accessibility and utility. Targeted sequencing is the technological backbone of these assays, enabling the highly sensitive detection of circulating tumor DNA (ctDNA) for minimal residual disease (MRD) assessment and recurrence monitoring without the need for invasive tissue sampling. This application has gained substantial traction not only in clinical settings but also in pharmaceutical research, where it is increasingly used to streamline drug development and stratify patients for clinical trials. Reflecting this trend, according to Guardant Health, August 2024, in the 'Second Quarter 2024 Financial Results', the company reported a 56% year-over-year increase in tests reported to biopharmaceutical customers, highlighting the growing reliance on liquid biopsy-based targeted sequencing for supporting the next generation of therapeutic discoveries.

Market Challenges

A major hurdle inhibiting the growth of the Global Targeted Sequencing And Resequencing Market is the intricacy of bioinformatics and data interpretation. Although targeted sequencing produces less total data than whole-genome approaches, it yields dense, complex datasets that necessitate robust computational infrastructure for processing. The main bottleneck occurs during downstream analysis, where laboratories must precisely differentiate between pathogenic variants and benign noise. This task requires advanced bioinformatic algorithms and expertly trained personnel to verify results, resulting in a resource deficit that extends diagnostic turnaround times and raises the operational costs of testing.

Additionally, the absence of standardized data frameworks worsens these challenges, causing fragmented information systems that struggle to interface with electronic health records. This lack of integration hinders healthcare providers from converting raw genomic data into prompt clinical decisions, thereby restricting the technology's scalability in non-specialized environments. As reported by the Pistoia Alliance in 2025, data silos continue to be a major barrier in laboratories, with 57% of industry respondents citing them as the leading obstacle to effective data usage and collaboration. This technical impediment directly limits market growth by preventing the smooth incorporation of sequencing workflows into standard medical practice.

Market Trends

The integration of Artificial Intelligence for improved variant interpretation is emerging as a key market differentiator, tackling the significant bottleneck of analyzing complex genomic datasets. With high-throughput sequencing producing immense volumes of raw data, laboratories are swiftly implementing AI-driven bioinformatics pipelines to automate variant classification and predict pathogenicity faster than manual methods allow. This trend indicates a structural shift in value, moving competitive advantage from physical sequencing workflows to downstream data analysis and clinical interpretation. Tempus AI's Third Quarter 2024 Financial Results from November 2024 highlight this shift, revealing a 64.4% year-over-year growth in data and services revenue compared to 20.3% in genomics revenue, emphasizing the growing reliance on AI-enabled insights rather than sequencing volume alone.

Concurrently, the application of targeted sequencing is expanding into non-oncology disease areas, diversifying revenue sources beyond the dominant cancer diagnostics sector. Diagnostic developers are adapting next-generation sequencing panels for hereditary conditions in cardiology, immunology, and reproductive health, where precise genetic data is vital for risk assessment and management. This expansion allows providers to offset saturation risks in oncology markets while tapping into the underserved demand for genetic testing in other specialties. Myriad Genetics validated this strategy in its November 2024 financial results, reporting a 10% year-over-year increase in prenatal testing revenue, fueled by strong volume growth and better reimbursement for its carrier screening and non-invasive prenatal products.

Key Players Profiled in the Targeted Sequencing And Resequencing Market

• Agilent Technologies Inc.
• Illumina, Inc.
• F. Hoffmann-La Roche Ltd.
• Thermo Fisher Scientific, Inc.
• DNASTAR Inc.
• Bio-Rad Laboratories, Inc.
• Integrated DNA Technologies, Inc.
• Perkin Elmer, Inc.
• RainDance Technologies, Inc.
• Genomatix GmbH

Report Scope

In this report, the Global Targeted Sequencing And Resequencing Market has been segmented into the following categories:

Targeted Sequencing And Resequencing Market, by Technology:

• Sequencing
• Re-sequencing

Targeted Sequencing And Resequencing Market, by Type:

• DNA-based targeted sequencing
• RNA-based targeted sequencing

Targeted Sequencing And Resequencing Market, by Application:

• Clinical application
• Plant and animal sciences
• Drug development
• Others

Targeted Sequencing And Resequencing Market, by End use:

• Hospitals & clinics
• Academic research
• Others

Targeted Sequencing And Resequencing Market, 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 And Resequencing Market.

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