13 February 2023

Researchers have made progress on a novel genetic testing approach for myeloid neoplasms, it has been announced.

The testing of recurrent genetic alterations can improve the accuracy of diagnosis, and may influence choice of treatment. However, current technology and workflows can have turn-around times of 10 to 14 days, delaying the start of therapies.

Dr Kojo Elenitoba-Johnson of the Memorial Sloan Kettering Cancer Center, New York, USA, and colleagues, reported the results of their study in the Journal of Molecular Diagnostics.

They tested the Oncomine Myeloid Assay GX panel on the Ion Torrent Genexus platform – a form of “rapid and automated semiconductor-based next-generation sequencing” that can simultaneously detect DNA and RNA aberrations.

It was tested on synthetic DNA and RNA, as well as sampled from 40 patients. The new process identified all of the relevant DNA and RNA variants in the synthetic samples. It also identified 82 of 107 DNA variants and all of the RNA gene fusions from patient samples.

“These results hold promise for the implementation of an integrated next-generation sequencing system to rapidly detect genetic aberrations, facilitating accurate, genomics-based diagnoses and accelerated time to precision therapies in myeloid neoplasms,” the authors conclude.

Dr Elenitoba-Johnson said: “There are significant laboratory workflow benefits using this platform compared with the current testing methods.

“Automated and integrated workflow-based platforms that deliver clinically relevant results in less than 24 hours could revolutionise the diagnostic workup of neoplastic conditions, potentially improving patient outcomes.”

He added that automated workflows such as these will have a “significant economic impact on laboratory expenses given the reduced requirement for human involvement”.


Sande CM, Wu R, Yang G, Sussman RT, Bigdeli A, Rushton C, Chitturi A, Patel J, Szankasi P, Morrissette JJD, Lim MS, Elenitoba-Johnson KSJ. (2023) “Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms.” Journal of Molecular Diagnostics, doi: 10.1016/j.jmoldx.2022.11.005

Link: https://www.jmdjournal.org/article/S1525-1578(22)00342-7/fulltext   

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