Invitae Corporation, a San Francisco-based medical genetics company, has begun offering early access to its new personalized cancer monitoring (PCM) platform as a laboratory-developed test performed at an Invitae central laboratory. The service employs a novel combination of a tumor profile, blood tests, and personalized assays based on a patient’s tumor with the goal of detecting circulating tumor DNA (ctDNA) before it is detectable by imaging or other conventional methods, offering earlier detection of cancer recurrence.

“Far too many patients who undergo treatment for cancer still relapse, and the cause is often the development of new cancer cell populations. One promising strategy for identifying recurrence early is to detect these cancer cells persisting in a patient after treatment, known as minimal residual disease (MRD), that cannot be detected with standard monitoring such as imaging,” says Robert Nussbaum, MD, chief medical officer of Invitae. “PCM has the potential to determine a therapy’s effectiveness much sooner than current monitoring methods, allowing clinicians to more efficiently refine and optimize treatment plans. In addition, patients whose cancer has been cured by tumor resection may be spared from unnecessary and potentially harmful adjuvant therapy, while those at risk of relapse can be diagnosed earlier and treated with the necessary therapies.”

During the early access program, academic and pharmaceutical researchers will be able to utilize the pan-cancer, CAP-accredited, and CLIA-certified PCM platform with testing and reporting completed by Invitae’s recently acquired laboratory in Iselin, New Jersey. Full commercial availability of PCM as a laboratory-developed test is expected later this year.

PCM is a pan-cancer, tumor-informed, liquid biopsy assay developed by Invitae to detect MRD and monitor for cancer recurrence. Clinical researchers may have the ability to have residual disease and/or cancer recurrence detected earlier than the current standard of care for most patients. By detecting residual disease/recurrence earlier, patients can be considered for therapy sooner, which may result in improved outcomes.

PCM includes three basic steps: 1. A patient’s surgically removed tumor or tumor biopsy and blood undergoes whole exome sequencing to create a patient specific tumor fingerprint. 2. Approximately 50 tumor-specific variants are selected for inclusion on a personalized ctDNA panel. 3. Patient-specific assays are created that can be used over time with minimally invasive blood draws to monitor for disease recurrence.

The platform is powered by Invitae’s Anchored Multiplex PCR (AMP) chemistry to perform error-corrected, next-generation sequencing. It is designed to identify traces of a patient’s original tumor DNA circulating in a patient’s blood, or ctDNA. Because ctDNA is a biomarker for MRD, AMP chemistry enables high sensitivity detection of MRD status. Detecting minute amounts of ctDNA while confidently determining MRD status may allow for earlier detection of relapse after treatment.

The high sensitivity and specificity of the PCM assay has been validated both in the laboratory and among NSCLC patients in the TRACERx study. Clinical validation studies will continue, as will the use of PCM to address research questions in support of meaningful clinical applications. Once more data become available in these important areas, PCM and other liquid biopsy approaches for monitoring MRD have the potential to become a mainstay in personalized oncology.

PCM could be applied in a variety of ways to help improve patient care and prolong survival outcomes. Its possible applications in the clinical setting include monitoring for recurrence, monitoring a patient’s response to therapy to guide treatment decisions, and improving clinical trial designs to help get new therapies to market sooner.