Somatic Reference Standards Initiative
Overview
The Somatic Reference Samples (SRS) Initiative seeks to create well-characterized reference samples to validate NGS-based cancer diagnostics. Funded by industry and philanthropic organizations, the pilot project aims to develop an initial set of 10 cell line-based reference samples with validated data sets. Key objectives include providing tools for NGS-based diagnostic test validation, establishing a sustainable model for reference sample generation, and expanding to other cancers and diseases. Key stakeholders include the FDA, NIH, NIST, CDC, diagnostics manufacturers, funding bodies, and payers.
The project is divided into three phases:
- Phase I (completed in October 2021) produced a landscape analysis of gene variants linked to human cancers and available reference materials.
- Phase II (May 2022–December 2025) focuses on gene editing, manufacturing, data analysis and integration, and commercialization.
- Phase III (in development) will define use cases, determine the next samples, and secure additional funding.
Deliverables include mixtures of variant-containing cell lines in FFPE format and validated data sets.
On Demand Webinar: The Somatic Reference Sample Initiative
In this webinar, a panel of experts discuss the Somatic Reference Samples (SRS) Initiative, a public-private partnership convened by MDIC that guides the development of reference samples used to develop and validate NGS-based cancer diagnostics.
Somatic Reference Standards Working Group
As the project moved from Phase 1 variant selection to Phase 2 development of reference samples in 2018, the project leadership structure was updated from Working Group to Steering Committee oversight.
Active SRS Steering Committee members represent the following IVD stakeholders:
- Illumina
- NIST
- Optum
- Precision Medicine & Diagnostics (PMDx)
- CDC
- FDA
- NIH