A next-generation sequencing-based in vitro diagnostic test that uses RNA isolated from formalin-fixed paraffin embedded (FFPE) tumor tissue to detect all classes of structural rearrangements, including fusions, deletions, inversions, and duplications, as well as measuring expression and splice variants in patients diagnosed with cancer.
WTS with MI Transcriptome provides the most comprehensive and unique RNA analysis available. Our offering covers all genes, with an average of 60 million reads per patient, to deliver extremely broad coverage and high resolution into the dynamic nature of the transcriptome.”
MS, PhD, MBA,
President and Chief Scientific Officer
MI Transcriptome CDx has received FDA Breakthrough Device designation for the detection of novel FGFR biomarkers including gene fusions in solid tumors. The CDx submission is based on the MI Transcriptome test which identifies novel fusions independent of the breakpoints in DNA, has the ability to detect rare fusion events far better than DNA-based short-read methods, and provides broad coverage of all exons, capturing far more possible fusion partners.
MI Transcriptome can distinguish between different fusion types and can differentiate fusions from other arrangements. It also has the potential to discover previously uncharacterized events, which is important when identifying patients who could have a strong response to targeted therapy. MI Transcriptome uses the same tissue requirements as Caris’ DNA tumor profiling and delivers results in the same 11-day turnaround, on average.
MI Transcriptome enables Whole Transcriptome sequencing (WTS). It uses the capabilities of high-throughput sequencing to gain insight into the RNA profiles of patient’s tumor. WTS builds upon our offering of the most comprehensive tumor profiling approach, which assesses DNA, RNA and proteins to ensure patients receive the right therapies.
MI Transcriptome™ covers essentially all 22,000 genes and has the ability to detect rare or novel fusion events better than targeted RNA sequencing or DNA-based methods. Caris Molecular Intelligence® tumor profiling includes MI Transcriptome, Whole Transcriptome Sequencing (WTS), via RNA next-generation sequencing. MI Transcriptome enables gene fusion and splice variant detection from one streamlined test. While the structural complexity around the fusion breakpoints and the intronic breakpoint location of some fusions may severely hinder proper capture of the fusion events and reduce the bioinformatic accuracy of DNA sequencing, the RNA products of these fusion events and far more straightforward to capture by RNA sequencing.
A study by Benayed, et al. shows that RNA fusion analysis identifies additional alterations as compared to DNA fusion analysis. This direct comparison shows RNA in the superior method for fusion analysis.
|Fusion/Variant||# Detected by RNA-seq (not detected by DNA-seq)|
|MET (exon 14)||6|
In a survey of the Caris database of over 30,000 cases run for RNA fusion detection, additional fusion partners were found beyond what other commercially available DNA panels report. In this survey, a DNA only approach, such as FoundationOne®CDx, would have missed 50% of clinically actionable NTRK3 mutations, due to the use of ETV6 (only), a common fusion partner for NTRK3*. Using RNA based fusion detection, multiple other clinically actionable NTRK3 fusion partners were found.
Caris Next Generation Profiling (NGP) uses the power of DEAN (Deliberation Analytics) artificial intelligence and machine learning technology to provide oncologists with the most thorough molecular analysis classification to inform decision making.
The Caris MDC technology has been demonstrated in accurately predicting tumor lineage for Carcinoma of Unknown Primary (CUP) cases. This is especially important to provide an unequivocal result when there is ambiguity about tissue of origin. The use of Caris MDC technology with machine learning algorithms will help to understand non-linear relationships at the molecular level to improve cancer diagnosis and treatments and treatments tailored molecular subtype.
We explore ways to improve patient care, enhance the healthcare delivery system, and transform precision medicine into reality.
We do this with a focus on three categories: prospective and observational research studies, scientific and medical publications, and continuing medical education.