Determining tumor mutational burden (TMB) and microsatellite instability (MSI) from its assays is an addition to the existing gene profiling provided by FoundationOne and FoundationOne Heme.
“The ability to accurately measure multiple biomarkers simultaneously, including TMB and MSI, is an important advance for the field of cancer immunotherapy, and one that is unique to Foundation Medicine,” Dr. Thomas George, MD, GI, oncology program director at the University of Florida, said in a press release.
TMB translates into the total number of DNA mutations per megabase in a tumor sequence. The phenomenon has been demonstrated in a series of different tumor types, including breast cancer, lung cancer, advanced bladder cancer and melanoma, among others. Some tumors develop high TMB as a consequence of a defective mismatch repair of DNA – a condition where the length of some DNA areas follows different patterns than normal. Tumors with high TMB are called MSI-high tumors.
“Foundation Medicine’s combination of advanced sequencing platforms and highly-specific algorithms gives me access to all relevant genomic biomarkers for my patients at once, helping to save both time and tissue,” George said.
When taken together, the molecular information collected provides unique insights into a patient’s immune system and helps physicians predict responses to therapies, identify targeted therapeutic options, and improve access to clinical trials – all from a single assay.
“Prior to our ability to measure TMB and MSI with FoundationOne, these biomarkers could only be detected separately, either through tests such as immunohistochemistry, polymerase chain reaction (PCR) or whole exome sequencing,” said Dr. Vincent Miller, MD, Foundation Medicine’s chief medical officer.
“Importantly, high-quality, predictive TMB scoring can only be accurately performed with sophisticated algorithms developed to work with broad, hybrid capture-based platforms that can analyze all relevant alterations simultaneously. Integrating this capability to measure TMB and MSI with one tissue sample, and reported in one test, represents an important advance in clinical care.”
A recent presentation, held at the latest American Society of Clinical Oncology (ASCO) annual meeting, showed a growing body of evidence validating the ability of the new independent marker, TMB, to predict the likelihood of response to cancer immunotherapies.
“We were encouraged by the findings presented at ASCO, including the possibility of identifying patients more likely to benefit from checkpoint inhibitor immunotherapy,” Miller said.
“Our goal is to empower doctors and patients with a full range of relevant, actionable genomic information, and we’re excited to offer our distinctive solution to estimate TMB and MSI simultaneously and with exceptional accuracy, supported by sophisticated algorithms and rooted in contextual insights from our knowledge base FoundationCORE. This is something no other next-generation sequencing platform offers,” he added.