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Liquid Biopsy: Translating Minimally Invasive Disease Profiling from the Lab to the Clinic

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Precision Cancer Medicine

Abstract

Precision medicine aims to characterize the unique molecular profile of individual tumors in order to predict clinical course and inform therapeutic decisions. The success of this approach is dependent on an adequate characterization of the disease at presentation, as well as over the course of treatment, as adaptations to therapy drive new mutations and resistance mechanisms. Tissue obtained through surgical excision or biopsy remains the mainstay of initial diagnosis and molecular analysis. However, tumor location and size, patient safety, and costs often limit the feasibility of repeated biopsies throughout the disease course. In addition, significant molecular heterogeneity between tumor sites and even within individual tumors can compromise comprehensive assessment of disease state from biopsy alone [1–4]. Liquid biopsies offer an alternative means of collecting representative and highly relevant information in a safe, easily repeatable, low cost manner in the form of a simple peripheral blood draw, enabling examination of various analytes including circulating tumor cells (CTCs), cell free DNA (cfDNA), cell free RNA (cfRNA), and extracellular vesicles with a widening array of potential clinical applications. Due to their easy accessibility, liquid biopsies enable monitoring of disease course in real time to gauge response to treatments, elucidate temporal evolution of genetic or cellular adaptations in response to therapies, and guide subsequent treatments. Hence, this approach may ultimately serve a pivotal role in translating precision medicine principles to clinical practice.

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Authors and Affiliations

  1. University of Southern California, Los Angeles, CA, USA

    Daniel Zainfeld, Umair Ghani, Irene Kang & Amir Goldkorn

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  1. Daniel Zainfeld
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  2. Umair Ghani
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  3. Irene Kang
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  4. Amir Goldkorn
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Correspondence to Amir Goldkorn .

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Editors and Affiliations

  1. Department of Internal Medicine, Division of Medical Oncology Comprehensive Cancer Center & The Arthur G. James Cancer Hospital at The Ohio State University, Columbus, OH, USA

    Sameek Roychowdhury

  2. Dana-Farber Cancer Institute, Boston, MA, USA

    Eliezer M. Van Allen

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Zainfeld, D., Ghani, U., Kang, I., Goldkorn, A. (2019). Liquid Biopsy: Translating Minimally Invasive Disease Profiling from the Lab to the Clinic. In: Roychowdhury, S., Van Allen, E. (eds) Precision Cancer Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-23637-3_10

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