Pioneered using Whole Exome Sequencing (WES) in clinical practice

Applying successes with Whole Exome Sequencing (WES) in research to clinical settings

After tremendous results using WES in basic and translational research, we turned our focus to clinical settings. A cost-effective alternative to whole-genome sequencing, WES has substantial potential to deliver actionable molecular information in real-life treatment environments.

Whole Exome Sequencing was a substantial technical challenge for most labs around the world in 2011 and out of reach for most clinical institutions. Under Dr. Cabanillas’ direction, cutting-edge WES technology was used to guide therapeutic decisions for patients with complex tumors, setting the stage for comprehensive genomic profiling in clinical practice for years to come.

For example, this image shows a 37-year old patient with a bulky intramedullary progression of a clivus chordoma. WES revealed that the tumor was exceptionally similar at a genetic level to a subtype of renal carcinomas, resulting in the patient starting on temsirolimus and subsequently being re-irradiated. Before WES, the patient’s condition had been terminal; diagnostics and tailored treatment from molecular information provided a high-quality of life for nearly four more years.

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