Liquid biopsy is traditionally defined as a non-invasive blood test that detects circulating tumor cells or cell-free DNA (cfDNA) released by tumors into the bloodstream (1). Liquid biopsy enables clinicians to characterize tumors frequently over a long period of time without the need for tissue biopsy. The critical question that often comes up is the sensitivity of the assays in detecting low-frequency mutations. The latest advances in technology such as next-generation sequencing (NGS), allele refractory mutation system (ARMS) and analytics make the reproducible detection of low-frequency alleles in liquid biopsies a reality.
Targeted DNA sequencing is one strategy for increasing assay sensitivity. The higher (1000x) coverage not only increases sensitivity but also significantly improves reproducibility, all from a small amount of sample. In a recent webinar, “Emerging role of liquid biopsy and NGS in biomarker discovery,” Dr. Raed Samara presented a complete step-by-step approach for using NGS strategies to analyze liquid biopsies. His presentation starts with the sample and takes you all the way through analysis and data interpretation. In addition, Dr. Samara also presents two application examples of targeted DNA sequencing in clinical research. Find out what a simple needle prick can reveal.