Components of the collection kit for the GeneStrat test by Biodesix.

Biodesix Inc, Boulder, Colo, recently announced the launch of GeneStrat, a targeted liquid biopsy mutation test for genotyping tumors of patients with advanced non-small cell lung cancer (NSCLC). The blood test results are available within 72 hours, providing physicians actionable diagnostic information prior to making treatment decisions.

GeneStrat is focused exclusively on the clinically actionable EGFR, KRAS, and BRAF mutations often used to guide targeted therapy decisions. The test also captures the EGFR T790M mutation, which can be used for monitoring the emergence of the primary resistance mutation in the EGFR gene. It is anticipated that two drugs targeting the resistance mutation may be available later this year.

GeneStrat uses a droplet digital polymerase chain reaction (ddPCR) platform to analyze cell-free tumor DNA in blood samples. The test is highly concordant with tissue analysis, currently considered the gold standard.

Roughly 30% of lung cancer patients either have insufficient biopsy tissue or are not candidates for a biopsy for tumor mutation profiling. Even in cases where tissue biopsy is available, the sense of urgency to treat is great, with one recent study showing that one out of four patients begin cancer treatment before receiving mutation test results. Requiring only a blood draw, GeneStrat offers a fast, minimally invasive alternative to a high-risk tissue biopsy or rebiopsy in patients with insufficient tissue.

In addition to providing a minimally invasive source of mutation status, liquid biopsy can be more cost-effective than traditional tissue biopsies. Across all NSCLC patients, the mean cost of each tissue biopsy is $14,634. The cost of a tissue biopsy can be up to four times higher in the 19.3% of patients who have complications associated with the biopsy. GeneStrat liquid biopsy can help avoid the costs and complications of repeat tissue biopsy.


David Brunel, Biodesix.

“Being diagnosed within 72 hours of a blood test is critical to rapid treatment decisions, as over half of people with lung cancer die within 1 year of their initial diagnosis,” says David Brunel, Biodesix CEO. “GeneStrat provides the tumor mutation profile at the time of diagnosis and can be used to monitor resistance by tracking the rise of the EGFR T790M mutation.

“For a more complete picture of the patient’s disease, GeneStrat can also be paired with VeriStrat, which captures the host response to the tumor—prognostic information early in treatment planning, and predictive information for patients who are ineligible for platinum doublet chemotherapy or after progression on first-line treatment,” adds Brunel. “These tests help physicians offer personalized treatment plans and enable more informed disease management strategy discussions with patients, without the need for more invasive and costlier tissue biopsies.”

Biodesix is a molecular diagnostics company advancing the development of innovative blood-based tests in oncology for precision medicine. The company discovers, develops, and commercializes multivariate protein and genomic diagnostic tests on a variety of discovery platforms. In addition to developing novel diagnostics independently, the company partners with biotechnology and pharmaceutical companies to develop companion diagnostics to improve utility of therapeutic agents. For more information, visit Biodesix.