Insights in Biomedicine Open Access

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Abstract

Liquid Biopsy Monitoring Of Circulating Cell-Free Tumour DNA and Identification of Cancer Gene Variations for Precision Diagnostics

Michael J. Powell

Current clinically available molecular tests for detection of nucleic acid variations especially those performed on circulating cell-free nucleic acids present in biological fluids such as patient’s blood plasma have limited sensitivity. In order to achieve high sensitivity for thedetection of only a few target molecules (mutant alleles) present in a vast excess of non-target molecules (wild-type alleles) sophisticated methodologies that require expensive instrumentation, highly skilled operators and in some cases intensive computational bioinformatics methods such as digital-droplet PCR (ddPCR), BEAMing PCR and next generation deep sequencing (NGS) are being employed in large clinical research centers. The limited availability, high cost and long analysis times of these methods prompted us to develop a new technology that can be performed globally by existing pathology personnel with instrumentation that is already present in every hospital pathology laboratory. At the heart of this innovative technology are new molecular nucleic acid analogs: xenonucleic acids (XNA) that possess all the natural bases that occur in DNA appended to a novel chemical backbone that imbibes these oligomeric nucleic acid binding molecules with exquisite specificity and extremely avid binding affinity for complementary target sequences. Any variation in the sequence that the XNA binds to creates a differential thermodynamic free energy of binding anomaly that has been exploited to develop target amplification based real-time qPCR and extremely high sensitivity NGS and bead-based hybridization capture assays that can detect as little as 2 copies of variant templates in a large excess of wild-type templates in DNA obtained from tissue biopsies or plasma circulating cell free DNA (cfDNA). Commercial CE/IVD Certified Products that have been developed and validated include QClampTM gene specific real-time qPCR based tests, a new colorectal cancer detection test called ColoScapeTM a high sensitivity amplicon based target NGS platform called OptiSeqTM and a multiplex target amplicon hybridization capture technology for monitoring drug sensitizing and resistance mutations in cancer patients. This presentation will discuss this new ground-breaking technology and the precision diagnostics and targeted therapy opportunities that it affords.

Published Date: 2021-12-07;