Global Rare Biomarkers Specimen Collection and Stabilization Market Grows at a Staggering CAGR of 9.2%

Introduction

Rare biomarkers specimen collection and stabilization involve obtaining and preserving biological samples containing rare or unique biomarkers, which are critical molecules or indicators used for diagnosing or monitoring specific diseases. These biomarkers are often challenging to detect due to their rarity or low concentration in the body, making the collection process more complex. Specialized techniques are required to ensure these biomarkers remain stable and intact, preventing degradation or alteration during transportation and storage.

Market Dynamics

Rising investments in biobanking and longitudinal studies drive the global market

Biobanks are essential in rare biomarker research, enabling longitudinal studies that track disease progression over extended periods. As investments in biobanking infrastructure rise, there is an increasing demand for advanced stabilization technologies to ensure the long-term viability and integrity of samples.

• For example, in July 2023, the UK Biobank committed £14 million over five years to expand its rare disease biosample repository. This investment focuses on incorporating cutting-edge cryopreservation and stabilization technologies aimed at improving sample preservation for ongoing and future research.

Such investments emphasize the critical role of reliable specimen collection and stabilization in advancing biomarker research, ensuring that the samples remain viable and accurate for years to come.

Emergence of digital biomarkers in rare disease R&D creates tremendous opportunities

The integration of digital biomarkers—collected via wearable devices, mobile applications, and AI-powered analytics—is transforming rare disease research and development. These innovative biomarkers enable real-time, continuous monitoring of physiological and behavioral data, facilitating early disease detection and improved treatment response assessment.

By providing non-invasive, scalable, and patient-centered monitoring solutions, digital biomarkers are reshaping the future of rare disease diagnostics and therapeutics. For example, in October 2022, Koneksa unveiled a clinical pipeline of validated digital biomarkers designed to accelerate life sciences research.

These biomarkers cover key therapeutic areas such as neuroscience, oncology, and respiratory diseases, highlighting the increasing role of digital technologies in biomarker innovation. The successful validation and adoption of digital biomarkers present significant growth opportunities for companies seeking to expand their presence in the rapidly growing market.

Regional Analysis

North America dominates the global rare biomarkers specimen collection and stabilization market due to its strong biopharmaceutical industry, extensive funding for biomarker research, and advanced healthcare infrastructure. The U.S. leads with high clinical trial activity, government-backed precision medicine initiatives, and significant investments in multi-omics research, driving demand for high-quality specimen stabilization solutions. Moreover, Canada contributes through its expanding biobanking networks and collaborative efforts in rare disease research, fostering innovation in sample collection.

Key Highlights

• The global rare biomarkers specimen collection and stabilization market size was valued at USD 49.17 billion in 2024 and is projected to grow from USD 56.38 billion in 2025 to reach USD 114.42 billion by 2033, growing at a CAGR of 9.2% during the forecast period (2025-2033).
• Based on type, the global market is segmented into circulating cell-free DNA (ccfDNA), circulating tumor cells (CTCs), and exosomes/extracellular vesicles. The circulating cell-free DNA (ccfDNA) segment is the largest revenue contributor.
• Based on product, the global rare biomarkers specimen collection and stabilization market is segmented into isolation kits & reagents, blood collection tubes, and systems. The isolation kits & reagents segment is the largest revenue contributor to the market.
• Based on application, the global rare biomarkers specimen collection and stabilization market is segmented into non-invasive prenatal testing (NIPT), oncology, pharmacogenomics, transplant rejection, cardiovascular diseases, and others. The oncology segment is the largest revenue contributor to the market.
• Based on end-users, the global market is segmented into hospitals, perinatal clinics, diagnostics laboratories, research institutes, and others. The research institutes segment is the largest revenue contributor to the market.
• North America is the highest shareholder in the global market.

Competitive Players

1. Koneksa Health
2. QIAGEN
3. Hoffmann-La Roche Ltd
4. Thermo Fisher Scientific Inc.
5. Eurofins Scientific
6. Bio-Rad Laboratories Inc.
7. Siemens Healthcare Private Limited
8. BD
9. Illumina Inc.
10. Beckman Coulter Inc.
11. Guardant Health
12. Avidity Bioscience.

Recent Developments

· In October 2024, Avidity Biosciences, Inc. announced the launch of a biomarker cohort study focused on patients with Facioscapulohumeral Muscular Dystrophy (FSHD). The initiation of this trial is expected to drive an increased demand for specimen collection to support biomarker analysis and disease monitoring.

Segmentation

1. By Type
   1. Circulating Cell-Free DNA (ccfDNA)
   2. Circulating Tumor Cells (CTCs)
   3. Exosomes/Extracellular Vesicles
2. By Product
   1. Isolation Kits & Reagents
   2. Blood Collection Tubes
   3. Systems
3. By Application
   1. Non-Invasive Prenatal Testing (NIPT)
   2. Oncology
   3. Pharmacogenomics
   4. Transplant Rejection
   5. Cardiovascular Diseases
   6. Others
4. By End-Users
   1. Hospitals
   2. Perinatal Clinics
   3. Diagnostics Laboratories
   4. Research Institutes
   5. Others
5. By Regions
   1. North America
   2. Europe
   3. Asia-Pacific
   4. Central & South America
   5. The Middle East and Africa