Somatic Reference Samples

Project to begin in June 2018

Needs and Opportunities (Problem/Challenge): Clinical oncology is being transformed by the use of next-generation sequencing (NGS) based diagnostics. This new technology can enable the rapid identification of potentially significant genetic variations across nearly the entire genome and the results are being increasingly used to determine the best course of treatment for oncology patients. Ensuring that these patients receive accurate results is imperative since a false negative or false positive result could mean that a patient may be diverted from a therapeutic option which may be more beneficial to them, they could be assigned to the wrong arm of a clinical trial, or they may be unnecessarily subjected to adverse drug effects. However, lack of agreed upon well-characterized and community-validated reference samples and data benchmarks creates a potential challenge for the efficient development of these critical tests and for understanding their results.

Vision (Solutions): Improve the efficiency and cost-effectiveness of accurate NGS-based test development and validation by establishing and organizing a collaborative community effort to develop needed reference samples. Availability of reference samples will aid in efficient NGS test development and validation, which will in turn streamline and possibly obviate steps in the regulatory process for diagnostic companies, provide transparency, and compress development timelines for targeted therapeutics developers.

Value to Stakeholders:

Stakeholder Value
Patients
  •  Speed patient access to validated cancer diagnostics and therapies
Industry
  • Enable a self-sustaining public-private consortium to define, characterize and make available reference samples for a broad range of variants that can be used to develop, validate, and compare genomic tests for somatic mutations.
  • Identify the most urgent needs for reference sample development and garner consensus on a prioritized set of variants and samples that should be characterized and made available.
  • Make available reference samples that will aid in efficient NGS test development and validation, which will in turn streamline and possibly obviate steps in the regulatory process for diagnostic companies, provide transparency, and compress development timelines for targeted therapeutics developers.
FDA
  • Availability of reference samples will aid in efficient NGS test development and validation, which will in turn streamline and possibly obviate steps in the regulatory process for diagnostic companies, provide transparency, and compress development timelines for targeted therapeutics developers

 

Additional information: Project Proposal pdf download