Program Overview

The Molecular Characterization Laboratory is a clinical and research laboratory that performs genomic sequencing in support of clinical and pre-clinical studies sponsored by the National Cancer Institute’s Division of Cancer Treatment and Diagnosis. 

We have a research laboratory and CLIA-certified laboratories to support clinical testing.  We follow rigorous procedures and protocols to ensure that our analyses are conducted with the highest quality consideration.  

Our scientists conduct all genetic sequencing and profiling for tumor models in the National Cancer Institute’s Patient-Derived Models Repository. We also review the histology of all mouse models of human tumors created for storage in the repository. 


Program Innovations

Our scientists have been integral to the planning and execution of the landmark National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH) and Pediatric MATCH clinical trials. 

We develop assays for cutting-edge technologies such as liquid biopsies and single-cell sequencing. Liquid biopsies are minimally invasive, novel tests which sample tumor-derived DNA fragments from blood. These test have tremendous potential to advance  the way cancer is diagnosed and treated. 

Program Focus

Genomic support for the NCI-MATCH and NCI-Pediatric MATCH clinical trials 

  • Seek to make precision medicine more versatile by determining whether drugs that treat one cancer with a certain mutation can treat other types of cancer with the same mutation. 
  • Established and participated in a central laboratory network that developed and validated a next-generation sequencing assay that screened the first 6,000 NCI-MATCH patients. 

Implementation of a liquid biopsy assay to support clinical studies 

  • Collaborated with Illumina to validate a 523-gene next-generation sequencing assay, TSO500 ctDNA, to test for clinically meaningful mutations in the blood of patients with cancer. 
  • Currently we are collaborating with Illumina to test over 4,000 liquid biopsies from the NCI-MATCH trial, with an emphasis on exploring the clinical utility of liquid biopsies in patients with rare and uncommon tumors. 
  • Co-leading an effort with the Foundation for the National Institutes of Health to develop and validate quality control materials for liquid biopsies. 

Molecular profiling of tumors and confirmation of tumor histology for patient-derived models 

  • Perform DNA and RNA extraction, sequencing, and analysis of all models in the National Cancer Institute Patient-Derived Models Repository, with the goal of establishing approximately 1,000 patient-derived mouse, cellular, and organoid models for the research community. 
  • Review all mouse models to confirm that the histology of the tumor growing in the mouse matches that obtained from the patient. 

Genomics support for the Experimental Therapeutics Clinical Trial Network 

  • Provide whole exome, transcriptome, and genome sequencing as well as targeted-panel based profiling of tumor and liquid biopsy samples as part of the National Clinical Laboratory Network
  • Provide a 523-gene panel is to Experimental Therapeutics Clinical Trial Network investigators interested in interrogating cell-free tumor DNA circulating in a patient’s blood.  
  • This assay can help to reduce the demand for multiple, invasive biopsies from the same patient during the course of a study, as well as monitoring for subclonal mutations evolving from metastatic lesions. 
  • Investigate novel technologies that can provide additional biomarkers that may prove useful to any given study within the Experimental Therapeutics Clinical Trial Network portfolio. 
  • Support 60 Experimental Therapeutics Clinical Trial Network studies through the National Clinical Laboratory Network, with more studies in consideration for future activation. 

Molecular profiling and genomics support for the Molecular and Immunologic Diagnostics Network trials 

  • Lead the clinical laboratory network in the Molecular and Immunologic Diagnostics Network, which aims to apply a precision oncology approach in clinical initiatives. 
  • The laboratory network will analyze tens of thousands of specimens from more than 5,000 patients over the course of five years. 
  • Provide molecular and immunologic specimen profiling through our CLIA-level network of laboratories. 
  • Support three initiatives in the network using our specialized laboratory support, bioinformatic analysis, and scientific expertise: 
  • Currently planning and coordinating the implementation, operationalization, harmonization, and validation activities of assays in the network laboratories. 
  • Provide whole exome, transcriptome, and targeted-panel based profiling of tumor and liquid biopsy specimens. 

Cutting-edge genomics technologies 

  • Support exploratory research at the National Cancer Institute Division of Cancer Treatment and Diagnosis using the latest genomics technologies: 
    • Single cell RNA sequencing: 10X Genomics Chromium 
    • Spatial multi-omics: NanoString GeoMX (to be implemented)