Asuragen NGS System for Streamlined Detection of RNA Lung Cancer Variants Demonstrates Superior Performance in Multisite Evaluation

Asuragen, Inc., a molecular diagnostics company delivering easy-to-use
products for complex testing in genetics and oncology, today announced
that the results of a five-site study using the QuantideX NGS RNA Lung
Cancer Kit^* have been published as an article in press by The
Journal of Molecular Diagnostics (see https://doi.org/10.1016/j.jmoldx.2018.10.003).
The peer-reviewed article, titled “Design, Optimization, and Multisite
Evaluation of a Targeted Next-Generation Sequencing Assay System for
Chimeric RNAs from Gene Fusions and Exon-Skipping Events in Non–Small
Cell Lung Cancer,” also describes the design and development of the
assay system. This system includes controls, pre-analytical sample QC,
targeted RNA-based enrichment, library clean-up and pooling, and
companion bioinformatics software that analyzes the corresponding
next-generation sequencing (NGS) data.

Non-small cell lung cancer (NSCLC) accounts for more than 10% of all
newly diagnosed cancers and is characterized by diverse molecular
drivers ranging from point mutations and insertion-deletions to gene
fusions and exon skipping events. NGS offers a multiplexed approach for
detecting RNA chimera from many different fused genes and splice
variants but it requires integrated reagents, controls, and interpretive
software to standardize testing procedures and assure consistent results
across laboratories. This study details the verification and external
evaluations of the targeted RNA-seq panel across a total of >200 FFPE
tumor biopsy materials representing common and rare RNA variants that
are associated with NSCLC.

The QuantideX RNA Lung Cancer Kit is a cGMP manufactured, end-to-end,
NGS-in-a-Box™ product solution that simultaneously interrogates over 100
known clinically-relevant gene fusions, 3’/5’ imbalance markers to
detect rare or novel fusions, MET exon 14 skipping events, and
mRNA expression levels from 23 genes in NSCLC samples. The kit is part
of an integrated workflow that delivers sequencing-ready libraries in
approximately half the time of comparable competitor methods and
incorporates push-button analytics to standardize test results. The
assay is optimized for use with low-quality and quantity samples such as
FFPE and fine-needle aspirations and can generate libraries from
approximately 10-20 ng RNA or total nucleic acid.

The targeted RNA-seq system was assessed for sensitivity, accuracy,
alignment of results with alternative testing methods, and
multi-laboratory concordance. Targeted fusions and exon skipping events
were detected down to a 1% cell fraction in a wild-type background.
Non-targeted fusions could be detected by 3’/5’ imbalance, with 100% of
cases detected at 15% positivity and 50% at 5% positivity. Results of
the Asuragen NGS assay were also compared to those generated by
immunohistochemistry (IHC), fluorescent in situ hybridization
(FISH), and/or the nCounter Vantage Lung Gene Fusion Panel (Nanostring
Technologies) using residual clinical specimens; all results reported by
the Asuragen assay were consistent with those generated by these
alternative methods. Lastly, a five-site precision study was conducted
to evaluate assay reproducibility. Every fusion and exon skipping event
in the cohort of nearly 250 sample libraries was correctly detected
across sites, consistent with the reference results.

An accompanying commentary on the study, also pending publication in the
journal, described the value of targeted RNA-based assays for limited
nucleic acid inputs and for their focus on clinically actionable
findings. “[The authors’] efforts at standardization and streamlining
the workflow process were demonstrated by good concordance across a
multisite implementation… the [QuantideX NGS RNA Lung Cancer Kit]
demonstrated good accuracy, reproducibility, and analytic sensitivity
for detecting fusions that were specifically targeted by design,” noted
the commentary’s author, Lauren Ritterhouse, MD, PhD, Co-Director,
Molecular Diagnostics and Clinical Genomics Laboratories at the
University of Chicago. “As such, they were able to produce a
comprehensive approach to targeted RNA sequencing that addressed several
quality control metrics that could ease the adoption of this assay into
laboratories seeking an RNA-based assay for identifying fusions and
splicing events in NSCLC.”

*For Research Use Only. Not for use in diagnostic procedures.

About Asuragen

Asuragen is a molecular diagnostic product company changing the way
patients are treated in genetics and oncology. Asuragen’s diagnostic
systems, composed of proprietary chemistry and software, deliver
powerful answers using broadly installed instrument platforms. They are
simple to adopt and expand the ability to serve patients. Asuragen is a
product foundry rapidly and efficiently addressing current and emerging
clinical needs, including cancer diagnosis and monitoring, reproductive
health and aging, serving laboratories across a patient’s lifespan with
its best-in-class diagnostic tests. For more information, visit www.asuragen.com.

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