MSI Diagnostic Testing Available for Precision Cancer Immunotherapy

BIRMINGHAM, Ala.–(BUSINESS WIRE)– CIRCULOGENE, a leading liquid biopsy company advancing precision medicine through personalized molecular genetics testing, has announced the availability of microsatellite instability (MSI) biomarker testing for multiple cancer types. The advanced immunotherapy testing is immediately available to oncologists and pathologists, enabling them to identify patients eligible for treatment with pembrolizumab across multiple cancer types, or nivolumab for colorectal cancer.

With the introduction of MSI testing, CIRCULOGENE becomes the only company able to provide circulating DNA, RNA, and MSI cancer immunotherapy testing, all from a single tube of blood. The company’s laboratory operations have been streamlined and automated for an industry-leading, three-day turnaround-time capability for all DNA, RNA and immunotherapy test results at a fraction of current industry costs.

“We’re entering the era of true precision medicine, with the ability to test for genetic mutations and tumor biomarkers across all cancer types to quickly determine what types of therapy may be effective for each patient,” said CIRCULOGENE CEO Mike Mullen. “This marks a major step forward for our company as well as for millions of patients who may now be eligible for immunotherapy targeting high-frequency MSI (MSI-H).”

Microsatellites are short, repeat stretches of DNA that can become unstable and interfere with the body’s ability to fight cancer. Microsatellite markers can be used to detect this genomic defect, also referred to as mismatch repair deficient (dMMR). With advanced genetic testing, it is possible to identify patients with MSI-H and/or dMMR tumors that are most likely to respond to new cancer therapies.

“The availability of this precise, actionable marker with its quick turnaround time and low cost means patients and their physicians can immediately take advantage of the most recent cancer-fighting therapies,” said Glen Weiss, M.D., M.B.A., medical oncologist and Clinical Associate Professor at the University of Arizona College of Medicine-Phoenix.

Earlier this year, the U.S. Food and Drug Administration (FDA) granted accelerated approval of pembrolizumab for the treatment of certain patients whose cancers have the MSI-H or dMMR biomarker. Additionally, nivolumab was recently approved by the FDA for colorectal cancer patients with MSI-H or dMMR tumors whose cancer has progressed following unsuccessful therapy.

Pembrolizumab and nivolumab work by targeting and interfering with the activity of cellular checkpoint proteins called programmed death-1 (PD-1) and programmed death-ligand 1 (PD-L1). By interfering with this pathway, these drugs help the body’s immune system better fight cancer cells.

“The pembrolizumab indication marks the first time the FDA has approved a cancer treatment based on a common biomarker rather than the origin of the tumor,” said CIRCULOGENE Chief Scientific Officer Chen-Hsiung Yeh, Ph.D. “With our unprecedented testing capabilities, we can perform single-blood-tube cancer biomarker testing for targeted therapy eligibility, including circulating DNA, RNA and MSI, as well as a complete package of immunotherapy testing, including PD-L1 and MSI.”

In addition to blood-based liquid biopsy, CIRCULOGENE’s MSI testing is available for tissue sample types.

CIRCULOGENE is Clinical Laboratory Improvement Amendments (CLIA) certified and provides biomarker testing for a broad range of cancers, allowing physicians to match results to specific drugs and clinical trials. For more information, visit our website, connect with us on LinkedInFacebook and Twitter, or email us at or call 855-614-7083. Clinicians interested in ordering tests may visit the Contact page on CIRCULOGENE’s website.


Headquartered in Birmingham, Ala., CIRCULOGENE is an innovative molecular diagnostics company founded and operated by a team of experienced industry executives and skilled molecular diagnostics scientists. Applying its proprietary laboratory developed test for cfDNA and cfRNA liquid biopsies, CIRCULOGENE has developed the next-generation sequencing (NGS) method to provide full genomic load analysis from one standard tube of blood in less than seven days, enabling more accurate data to help clinicians and their patients choose targeted therapies, monitor efficacy and monitor for recurrence. For more information, visit or call 855-614-7083.


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