MDICx Series: Somatic Reference Samples: Tumor Suppressor & Gene Signature Public Comment Period Announcement

May 1, 2019, 12 p.m. ET/ 11 a.m. CT/ 9 a.m. PT

Clinical oncology is being transformed by the use of next-generation sequencing (NGS) based diagnostics. This technology can enable the rapid identification of potentially significant genetic variations across nearly the entire genome, and 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.

The goal of this MDIC Clinical Dx initiative is to develop properly consented, widely shareable reference samples that can be made available to the public and scalably produced in order to enable efficient development and improve the accuracy, reliability and transparency of NGS-based oncology tests. These samples are intended to be quality checked and validated, and made available in varying forms (e.g., cells, DNA/RNA, FFPE), represent the range of potential variant types and allele fractions of interest (e.g., SNVs, fusions, large/small indels, CNVs), and be made available as  tumor/normal matched pairs.

Key topics include:

  • MDIC Public-Private Partnership
  • Overview of the Somatic Reference Sample project
  • Review of process and criteria for prioritizing tumor suppressors, selecting variants, and potential multi-gene signatures to be considered for reference samples
  • Review of prioritized list of tumor suppressors and process for public input.


  • Tim Stenzel, MD, PhD | Director, Office of In Vitro Diagnostics and Radiological Health, CDRH, FDA
  • JD Alvarez, MD, PhD | VP, Oncology Diagnostics, Janssen Oncology | MDIC SRS Working Group Chair
  • Tim McDaniel, PhD | SVP Emerging Opportunities, TGen | MDIC SRS Variants Lead
  • Mike Morrissey, PhD | Executive Director, Oncology Genomics & Analytics | Merck Research Laboratories | MDIC SRS Tumor Suppressor / Gene Signatures Lead

View the Webinar:

Archived recordings of previous webinars can be found <a href=””>here</a>.

Additional information about the SRS project can be found <a href=””>here</a>.