In this webinar, a panel of experts will discuss the Somatic Reference Samples (SRS) Initiative, a public-private partnership convened by the Medical Device Innovation Consortium (MDIC) guiding the development of reference samples that can be used to develop and validate NGS-based cancer diagnostics.

Ensuring that oncology patients receive accurate results is imperative; however, the lack of agreed-upon, well-characterized, and community-validated reference samples and data benchmarks creates potential challenges for the efficient development of these tests and for understanding their results. A pilot project has been fully funded by industry and philanthropic organizations to develop, manufacture, and create an initial set of 10 reference samples together with validated data sets.

The goals of this pilot project are to:

  • Create a pathway for improved validation and accuracy of NGS-based diagnostic tests.
  • Potentially transform the regulatory review process, expediting CDx and therapeutic development.
  • Build a sustainable model for somatic reference samples and dataset generation.
  • Expand to other cancers and diseases.

Panelists will discuss the rationale and benefits of this approach within the regulatory context as well as across the total product life cycle of diagnostics, as well as the potential of the approach to improve diagnostic development, reimbursement, adoption, and disease management for kit manufacturers and clinical testing laboratories.


Maryellen de MarsMaryellen de Mars, PhD
Program Director, Clinical Diagnostics, Medical Device Innovation Consortium (MDIC)

Maryellen de Mars joined the Medical Device Innovation Consortium (MDIC) in January 2022 as SRS technical project manager and subsequently moved into the role of program director for clinical diagnostics. Before joining MDIC, de Mars led efforts for regulatory approval and market launch of a novel molecular platform for the detection of COVID-19 at Integrated Nano-Technologies (INT). Prior to joining INT, de Mars was vice president of the Standards Resource Center (SRC) at ATCC, a business unit focused on standards and related services supporting life science research and development. While at ATCC, she served as an industry representative in early MDIC SRS efforts to help mold and define the current project. Prior to working with ATCC, de Mars served as chief operating officer and vice president of clinical operations at USDS, an independent third party evaluating the performance of molecular diagnostic tests to support regulatory, reimbursement, and adoption efforts. She also served as director of clinical biomarkers at Critical Path Institute (C-Path), leading collaborative efforts to evaluate and improve the utility of clinical biomarkers and optimize the pathway for the development of companion diagnostics. She served as the executive director of genomics services at Gene Logic, as well as director of Gene Logic’s biorepository. De Mars led business development and marketing efforts for several product lines at Life Technologies, now ThermoFisher Scientific. She holds a bachelor’s degree from Smith College and a doctorate in virology from the University of Texas. She completed postdoctoral training in transcriptional regulation at Johns Hopkins University.

Girish Putcha headshotGirish Putcha, MD, PhD
Principal, Precision Medicine & Diagnostics LLC

Girish Putcha is principal at Precision Medicine & Diagnostics, where he focuses on market access and reimbursement, regulatory, and government affairs strategy. He previously served as chief medical officer at Freenome and as director of laboratory science for Palmetto GBA’s MolDX program. He has also held senior leadership roles at Life Technologies, Ariosa Diagnostics, and Crescendo Bioscience. Prior to this, he focused on life science investments at Panorama Capital and RiverVest Venture Partners.

Girish holds a medical degree and doctorate in molecular neuroscience from Washington University in St. Louis, with specialty training in clinical and molecular genetic pathology at Stanford University.

Mickey Williams headshotMickey Williams, PhD
Director Molecular Characterization Laboratory, Frederick National Laboratories for Cancer Research

Mickey Williams has been active in the use of molecular technologies for drug-target discovery. During his 13 years at Genentech, he developed novel assays to support clinical studies and discover new therapeutic targets. He was the author of the first quantitative real-time PCR papers and contributed to the development of this powerful technology. Prior to joining FNLCR in 2010, he was a senior research group leader at Roche Molecular Diagnostics. While at Roche, he led the research effort and managed two large multi-national clinical assay studies: the MILE Study (microarray innovations in leukemia), and a collaboration with the LLMPP (leukemia and lymphoma molecular profiling project). He also initiated two projects that have subsequently been approved by the FDA as IVD tests. He has published over 50 manuscripts and is an inventor on over 30 issued US Patents. Williams received his doctorate from the University of Virginia.

Justin Zook headshotJustin Zook, PhD
Co-leader Biomarkers and Genomic Sciences Group, National Institute of Standards and Technology (NIST)

Justin Zook is co-leading the Genome in a Bottle Consortium’s work developing authoritatively characterized human genomes to benchmark sequencing methods. He developed methods to compare and integrate whole-genome DNA sequencing data from multiple platforms and sequencing runs to characterize the first whole human genome reference materials. He is now leading the GIAB Analysis Team’s work combining short, linked, and long-read sequencing technologies to characterize structural variation and challenging regions of the genome. He co-led the variants team in the Telomere-to-Telomere Consortium, demonstrating the utility of the first complete human genome. He was an informatics representative to the Association for Molecular Pathology Clinical Practice Committee, and he chaired the Global Alliance for Genomics and Health Benchmarking Team, which published best practices for benchmarking genome sequencing results in 2019. He has co-authored over 60 papers, including in Science, Nature Biotechnology, Nature Methods, JAMA, and Cell Genomics, and he wrote a blog about the inspiration for his NIST work.

Ephrem Chin headshotEphrem Chin, MBA
Head, Cell Based Molecular Reference Standards for Oncology & Prenatal Testing, Revvity Mimix Head, Global OMIC Services, Revvity Omics

Ephrem Chin is an experienced genomics professional and held commercial and scientific/technical leadership roles at Baylor College of Medicine, Emory University, and Oxford Gene Technology. He has a Bachelor of Biotechnology degree with First Class Honors from The University of Auckland and a Master of Business Administration degree from Emory University’s Goizueta Business School.