The Need

Chromosomal rearrangements, leading to the juxtaposition of two unrelated genes and thus creating a chimeric mRNA transcript and protein ("gene fusions"), are important drivers of abnormal cell growth in cancers. Although gene fusions have a well-established role in hematologic malignancies (e.g. BCR-ABL fusion in chronic myeloid leukemia), gene fusions have now been identified in many solid tumor types, supporting the notion that gene fusions are linked to the development of most cancer types. Current clinical diagnostic tools to detect genomic alterations, such as gene fusions, are limited and expensive. Therefore, cost-effective methods with a rapid turnaround time are needed to detect both known and novel gene fusions. RNA sequencing is a research tool that is capable of detecting gene fusions, but currently there is no clinical grade RNA sequencing assay available.

The Technology

Researchers led by Dr. Sameek Roychowdhury at The Ohio State University have developed OSU­-SpARKFUSE, an RNA sequencing assay that is capable of detecting gene fusions. In addition to detecting known gene fusions, this technology can detect novel gene fusion mutations that are not detectable by standard methods, such as Fluorescence In Situ Hybridization (FISH) or polymerase chain reaction (PCR). Identification of novel gene fusions can allow clinicians to match patients to personalized therapies that specifically target the gene fusion. The developed technology is a “pan-cancer” assay that can be utilized for most types of cancer.

Commercial Applications

• Molecular diagnostics, biomarkers and early-detection screening
• Precision cancer medicine
• Companion diagnostics for cancer treatment guidance
• Monitoring cancer treatment for efficacy, resistance and recurrence
• Liquid biopsy analysis of exosome RNA

Benefits/Advantages

• OSU­-SpARKFUSE is a clinical grade RNA sequencing assay that detects both known and novel gene fusions that existing methods cannot
• This technology utilizes a desktop sequencer and results can be obtained with a rapid turnaround time
• The developed assay can be used to match patients to targeted therapies and can be utilized for most types of cancers