Current Clinical Applications of Liquid Biopsies

Dr Janku noted that the study has several limitations, including the fact that the survival and treatment outcomes analyses were retrospective. He said these findings need to be validated in future prospective studies. He also said the clinical utility of cell-free DNA mutation testing remains to be proven in prospective clinical trials in which therapeutic interventions are tailored on the basis of patients’ respective cell-free DNA mutation status.

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Grace Dy, MD, associate professor of oncology in the Department of Medicine at Roswell Park Cancer Institute in Buffalo, New York, said that this study is important because of the variety of malignancies that were studied. She said in this era of patient-oriented and value-based medicine, it is paramount that these assays be validated to define their scope in routine clinical practices.

“This study adds to the growing literature supporting the use of cell-free circulating DNA assays in various clinical settings, primarily for systemic treatment planning in metastatic patients currently, but also with the potential for serial monitoring to provide prognostic information,” Dr Dy told Cancer Therapy Advisor. “This study enrolled patients with different types of malignancies, mostly colorectal cancer and melanoma, several of whom had serial monitoring of plasma BRAFV600 status over time. Investigators reported very good concordance between the tests similar to other assay methods. The positive predictive value of the test is high owing to its high specificity.”

Anthony Magliocco, MD, chair and senior member of the Department of Anatomic Pathology at the Moffitt Cancer Center in Tampa, Florida, agrees with Dr Dy and noted that this technology is improving consistently and exposing a greater number of genetic mutations. “The technology is getting more sophisticated and more sensitive,” Dr Magliocco said in an interview with Cancer Therapy Advisor. “Liquid biopsies are increasing our knowledge. They can certainly be very cost effective and help avoid risky surgery. There may be instances where the primary tumor has been removed and a blood test can be done to look at residual malignant cells and identify a mutation that can be treated.”


  1. Janku F, Huang HJ, Claes B, Fu S, Hong D, Ramzanali NM, et al. BRAF Mutation Testing in Cell-Free DNA from the Plasma of Patients with Advanced Cancers Using a Rapid, Automated Molecular Diagnostics System [published online ahead of print May 20, 2016]. Mol Cancer Ther. doi: 10.1158/1535-7163.MCT-15-0712.
  2. Biocartis launches its flagship molecular diagnostics platform Idylla™. Biocartis. Published September 12, 2014. Accessed June 2, 2016.