Transforming Cancer Diagnostics: The Promise of Somatic Reference Samples

A first-of-its-kind public-private partnership led by the Medical Device Innovation Consortium (MDIC) is advancing a major step forward in cancer diagnostics. The Somatic Reference Samples (SRS) Initiative is developing standardized, well-characterized materials to help laboratories, regulators, and test developers ensure that next-generation sequencing (NGS)–based cancer diagnostics deliver accurate and reproducible results.

While NGS has revolutionized precision oncology by enabling detection of cancer-linked mutations with high sensitivity, the field has long lacked standardized somatic reference materials—samples that can serve as benchmarks for assay development and validation. Without them, laboratories face challenges in proving test accuracy, regulators struggle to evaluate new assays consistently, and payors lack common reference points for reimbursement decisions.

Recognizing this unmet need, MDIC launched the SRS Initiative in 2018 to create a trusted foundation for the evaluation of NGS-based diagnostics. The effort brings together a diverse coalition of stakeholders—including the U.S. Food and Drug Administration (FDA), National Institutes of Health (NIH), National Institute of Standards and Technology (NIST), Centers for Disease Control and Prevention (CDC), diagnostics manufacturers, payors, and funders.

Building the Tools for Reliable and Reproducible Testing

The initiative’s pilot project, funded by industry and philanthropic partners, is developing an initial set of 10 somatic reference samples paired with validated datasets. These engineered cell lines and materials mimic real patient specimens, allowing consistent benchmarking across laboratories and platforms.

The samples serve multiple purposes: regulatory validation, proficiency testing, assay calibration, and quality control. Together, they provide a “ground truth” that supports test reproducibility, fosters innovation, and accelerates regulatory review. By reducing uncertainty in performance data, the initiative aims to speed the development and approval of safe, effective diagnostics and companion therapeutics.

A Broader Vision for the Diagnostic Ecosystem

Beyond technical validation, MDIC’s SRS Initiative is shaping a sustainable framework for data sharing and long-term access to reference materials. The program’s roadmap includes exploring business models to ensure ongoing sample replenishment, developing analytical standards for NGS applications, and leveraging FDA-recognized databases to support clinical evidence generation.

The initiative’s impact extends across the healthcare ecosystem. For patients, it promises more accurate diagnoses and more precise treatment selection. For test developers and regulators, it streamlines evidence generation and review. And for payors, it enhances confidence in the clinical and analytical validity of emerging diagnostics.

Looking Forward

As the SRS Initiative evolves, MDIC and its partners envision an expanding platform that supports new technologies, including AI-driven analysis and digital reference models. The long-term goal is a global, community-validated resource that not only strengthens cancer diagnostics but also lays the groundwork for improved testing across multiple disease areas.

With its collaborative foundation and focus on scientific rigor, the SRS Initiative exemplifies MDIC’s mission: to unite public and private partners in advancing medical device innovation for patient benefit.