M.D., Ph.D., Molecular Genetic Pathology Fellow, Brigham and Women’s Hospital, Harvard Medical School
Dr. Lauren Ritterhouse is interested in molecular pathology and clinical genomics, specifically cancer diagnosis and prognosis. As a molecular genetic pathology fellow at Brigham and Women’s Hospital and Harvard Medical School, she was interested in the translation of emerging molecular biomarkers into the clinical laboratory, including the use of Droplet Digital PCR (ddPCR) for plasma cell-free DNA detection. Prior to the molecular genetic pathology fellowship, she was an Anatomic Pathology resident at Brigham and Women’s Hospital and obtained an MD and PhD degree in clinical immunology from the University of Oklahoma.
Plasma cfDNA Mutation Detection in EGFR-Mutated Lung Cancer
In clinical validation, plasma cfDNA ddPCR for EGFR hotspot mutations in NSCLC patients showed a specificity of 100% relative to tumor tissue genotyping with sensitivities from 72-92%. In practice, plasma cfDNA for EGFR mutation detection are resulted in a mean of 4 days from phlebotomy and can reduce the need for invasive biopsies.
Session Abstract – PMWC 2017 Silicon Valley
Session Synopsis: The richness of physiological information in cell-free DNA & RNA is being mined for early detection and treatment in cancer, transplant health, Type I diabetes and other disease states. Depending on the number of biomarkers being usefully interrogated, either broad profiling by Next Generation Sequencing or focused quantitative measurements by digital PCR may be best suited for clinical decision-making. The high sensitivity, specificity and reproducibility of droplet digital PCR technology, as well as its rapid turnaround time and affordability, have led to its explosive uptake in clinical investigations, especially for cancer. Increasingly, translational researchers and clinicians are moving back and forth between the two technology approaches at different stages of disease. Speakers in this session will illustrate how and why they have chosen the technical approach used in their studies and/or for ongoing patient care, including factors such as type and stage of cancer, urgency of the information, what is already known and what can be usefully learned about the particular patient’s disease.