| Autor: |
Sande, Christopher M., Wu, Rui, Yang, Guang, Sussman, Robyn T., Bigdeli, Ashkan, Rushton, Chase, Chitturi, Akshay, Patel, Jay, Szankasi, Philippe, Morrissette, Jennifer JD., Lim, Megan S., Elenitoba-Johnson, Kojo SJ. |
| Zdroj: |
The Journal of Molecular Diagnostics; 20220101, Issue: Preprints |
| Abstrakt: |
Evaluation of suspected myeloid neoplasms involves testing for recurrent, diagnostically and therapeutically relevant genetic alterations. Current molecular testing requires multiple technologies, different domains of expertise, and unconnected workflows, resulting in variable, lengthy turnaround times (TATs) that can delay treatment. To address this unmet clinical need, the Oncomine Myeloid Assay GX panel on the Ion Torrent Genexus platform, a rapid (<24-hour nucleic-acid-to-result TAT), integrated nucleic-acid-to-report NGS platform for detecting clinically-relevant genetic aberrations in myeloid disorders, was evaluated. Specimens included synthetic DNA (101 targets) and RNA (9 targets) controls and “real-world” nucleic acid material derived from bone marrow or peripheral blood samples (40 patients). Ion Torrent Genexus results and performance indices were compared to those obtained from clinically-validated genomic testing workflows in two separate clinical laboratories. The Ion Torrent Genexus identified 100% of DNA and RNA control variants. For primary patient specimens, the Ion Torrent Genexus reported 82/107 DNA variants and 19/19 RNA gene fusions identified on clinically validated assays, yielding an 80% overall detection rate. Reanalysis of exported, unfiltered Ion Torrent Genexus data revealed 15 DNA variants not called by the filtered on-board bioinformatics pipeline, yielding a 92% potential detection rate. These results hold promise for the implementation of an integrated NGS system to rapidly detect genetic aberrations, facilitating accurate, genomics-based diagnoses and accelerated time to precision therapies in myeloid neoplasms. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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