Oncomine NGS Solutions Community

Precision oncology research continues to explore the utility of targeted therapies and immunotherapies. As we gain a deeper understanding of the molecular mechanisms of tumor biology, comprehensive genomic profiling (CGP) is critical to help drive insights into advancing the future of personalized medicine. 

In this on-demand webinar in partnership with The Pathologist, Dr. Annarita Destro, PhD, Head of the Molecular Pathology Department from Humanitas Research Hospital in Milan, Italy, evaluates the Oncomine Comprehensive Assay Plus for CGP.  The Oncomine Comprehensive Assay Plus is an amplicon-based NGS assay that can be used to simultaneously assess a broad range of biomarkers, including genomic alterations and genomic signatures, in one test to maximize insights into the underlying oncogenic drivers in a timely manner.

Dr. Destro’s laboratory chose the Oncomine Comprehensive Assay Plus because it allows for the analysis, in a single solution, of all the different aspects of the tumor characteristics. For instance, both the presence of alterations in the homologous recombination repair (HRR) genes such as BRCA1 and BRCA2 and genomic instability can be assessed to determine the presence or absence of homologous recombination deficiency (HRD), which is especially relevant in ovarian cancer samples. Further, mutations in POLE and TP53 genes can be detected while determining microsatellite instability and tumor mutational burden (TMB) statuses for informative results in endometrial tumor samples.  

Dr. Destro then highlights why the Oncomine Comprehensive Assay Plus is useful in identifying gene fusions since other methods such as fluorescence in-situ hybridization (FISH) may not be as sensitive when the translocations occur in close proximity such as in case of some RET fusions. RET fusions are often drivers of disease and sensitive fusion detection with low failure rates on difficult samples is a key advantage of amplicon-based CGP assays.

To learn more about the relevance of CGP to detect a broad range biomarkers across tumor types, watch the on-demand webinar that shows how Dr. Destro is using the Oncomine Comprehensive Assay Plus to advance the future of precision medicine. 

Dr. Cecilia Yeung is a pathologist at the Fred Hutch Cancer Center (FHCC) with specialty training in hematopathology and molecular pathology. Her research focuses on understanding the clonal dynamics of myeloid malignancies with the goal of advancing precision oncology and expanding access to pathology services in low- and middle-income countries.

In collaboration with The Max Foundation and the National Cancer Institute, FHCC is helping to provide advanced molecular diagnostics to patients in underserved populations and accelerate therapeutic developments for myeloid neoplasms through exciting new clinical trials. The program, established in 2019, is called the Spot on CML Collaboration. As part of this clinical trial, physicians in LMICs are able to draw blood samples and place four drops on test cards that are then mailed and transferred to the lab at Fred Hutch for processing

Upon receiving the results, the Max Foundation informs the physician of diagnosis and helps to inform appropriate treatment. The lab at FHCC leverages the amplicon-based NGS, a technique Dr. Yeung says has performed remarkably well, even with challenging samples that contain very limited amounts of nucleic acid. Since the program started, the molecular oncology lab at FHCC has processed nearly 1000 samples from 23 countries.

As part of their clinical research, the molecular oncology lab at FHCC evaluated the Oncomine Myeloid Assay GX on the Genexus System. The assay was selected because of its ability to rapidly detect both RNA fusions and DNA variants in the same sequencing run and produce harmonized data across sister labs.

Dr. Yeung concluded that the Genexus System and Oncomine Myeloid Assay GX demonstrated strong performance with challenging samples, and that they have the potential to make a significant impact on global oncology.

Through their continued collaboration, Dr. Yeung, the molecular oncology lab at FHCC, and The Max Foundation are helping to advance the future of precision oncology in low and middle-income countries.