Genomic profiling of liquid biopsies is no longer an emerging area of clinical research, but quickly becoming translated as part of contemporary clinical trials for potential future use in the diagnostic setting.  Comparatively less invasive than traditional solid tissue biopsy approaches, liquid biopsy specimens such as blood or urine can be used not only for early detection, but for the monitoring of therapeutic response and progression.  While custom circulating tumor DNA (ctDNA) assays are being academically developed for the profiling of specific biomarkers in a specific disease or therapeutic context, there are commercially available pan-cancer circulating nucleic acid (cNA) panels available. These commercially available panels can be readily used  to reveal the spectrum of  key genomic changes within liquid biopsies, determine the level of sensitivity that can be obtained and provide a means for validation. This presentation will summarize the evaluation of the Oncomine Pan-Cancer Cell Free Assay and together with the Oncomine Comprehensive Assay v3 we demonstrate the utility of this platform to map nucleic acids released to the blood or urine in the context of breast and prostate cancer.

Learning Objectives:

1. Define liquid biopsy profiling potential for improved cancer clinical management

2. Define liquid biopsy profiling provides insight on tumour progression

Next-generation sequencing (NGS) has become the most effective tool in the practice of clinical oncology. The technology allows for rapid detection of variants in DNA/RNA simultaneously in a single run within a few days. The results provide valuable information on diagnostic, prognostic and therapeutic targets, which help physicians determine the treatment strategy for cancer patients. This presentation includes two parts. Part 1 will cover NCCN/CAP/ASH guidelines and treatment options for hematologic malignancies. Part 2 will share the experience with the Oncomine Myeloid Research Assay including technical validation and summary of the clinical data from over 1300 patients. Overall, the abnormality rate was 56%. Among these patients, 3% were MPN, 34% were AML, 10% were MDS, and 53% were other myeloid disorders. The most common variants detected include TET2, ASXL1, DNMT3A, RUNX1, TP53, FLT3, IDH1, IDH2, WT1, JAK2, CALR, and CEBPA. The fusions include BCR/ABL1, CBFB-MYH11, KMT2A fusions, RUNX1 fusions, and PML-RARA. These variants are clinically actionable with therapeutic drugs or have prognostic implications.  In summary, this presentation demonstrates that the NGS test is a robust and powerful tool for detecting genetic alterations associated with various types of cancers. This advanced tool will help maximize the benefit of precision medicine in the clinical oncology practice for cancer patients.

Learning Objectives:

1. Explain the overview of the guidelines and treatment options for hematologic neoplasms

2. Describe the clinical utility of targeted next generation sequencing tests in the context of myeloid neoplasms