Invitae today announced full access to its Personalized Cancer Monitoring (PCMTM) platform to help detect minimal or molecular residual disease (MRD) in patients with solid tumors. Invitae PCM uses a novel set of personalized assays based on a patient’s tumor to detect circulating tumor DNA (ctDNA) in blood, offering the ability to perform risk stratification, response assessment to treatment and detection of cancer recurrence, based on recent studies.
“Relapse risk stratification is a clinical need for many patients undergoing treatment for solid tumors and is best served by up-to-date molecular tools to complement and improve upon the standard of care methods for recurrence detection,” said Robert Nussbaum, M.D., chief medical officer, Invitae. “The PCM platform complements current monitoring methods, and has the ability to determine a cancer therapy’s effectiveness earlier than those methods for many patients, allowing clinicians the opportunity to refine treatment options.”
Over the past several years, research from Invitae and the greater scientific community, including the TRACERx study led by Professor Charles Swanton at the Francis Crick Institute and University College London (UCL), and funded by Cancer Research UK, has shown that MRD monitoring can reliably identify lung cancer patients at high risk of relapse, detect post-surgical recurrence often earlier than standard imaging, assess therapy response, and potentially act as a surrogate for clinical trial endpoints. With these capabilities, MRD monitoring promises to shorten clinical trials and accelerate the development of potentially life-saving new drugs. Invitae PCM is a pan-cancer, tumor-informed liquid biopsy assay, co-developed with the TRACERx consortium, that uses a next generation sequencing (NGS) to analyze ctDNA in a patient’s plasma.
“MRD is an important biomarker in the adjuvant and surveillance period,” said Professor Charles Swanton, MBPhD, FRCP, FMedSci, FRS, FAACR, at the Francis Crick Institute and UCL Cancer Institute and Chief Clinician of Cancer Research UK. “As we’ve seen in the TRACERx study, PCM provides prognostic information, can aid in cases of radiographic ambiguity, and demonstrates high clinical sensitivity and specificity.”
Liquid biopsy tests have been available for therapy selection, but to identify MRD at an earlier stage than conventional methods before patients clinically relapse, the technology must be sensitive enough to detect ctDNA at very low levels. Additionally, an MRD test with high specificity is also needed to reduce the likelihood of false positive results. The PCM test utilizes advanced technologies to arrive at high levels of sensitivity and specificity, detecting tumor DNA at very low levels of concentrations in peripheral blood. Validation studies demonstrate greater than 99.9% sensitivity in detecting ctDNA at a 0.008% variant allele frequency.
“We are excited about PCM availability globally, as this is an evolving area where we have invested over the last year and we believe has the potential to give patients the information needed to understand their recurrence risk to fight and beat the disease,” said Sean George, Ph.D., co-founder and CEO of Invitae.
Each assay is custom designed to detect a patient’s unique tumor signature, allowing for personalized results to guide treatment decisions. Invitae PCM requires both blood and tumor tissue samples from the patient to conduct tumor-normal whole exome sequencing (WES). Based on the results, Invitae’s proprietary algorithm selects 18-50 tumor-specific variants to include on the patient’s custom-designed ctDNA panel. This range of variants allows for a balance of highly sensitive and specific MRD detection in cancers that have lower or higher mutational burdens.
If an MRD-positive result is obtained at any point in a cancer patient’s journey, the clinician and patient can discuss the implications of the result and the most appropriate treatment or clinical trial options. “This molecular knowledge impacts cancer patients throughout their cancer journey, making this a mainstay in precision oncology,” said George.
Invitae is actively expanding the research portfolio globally to continue to gather data on PCM clinical utility as well as MRD-guided studies. Invitae anticipates multiple publications this year across its PCM studies in lung, breast, head and neck, and GI tumors as well as several prospective studies kicking off in the first half of the year. These prospective studies include a pan-tumor study (MARIA) and several studies in breast and GI cancers, including ARTEMIS, a study examining Invitae’s PCM offering specifically for patients with pancreatic cancer. The study will be conducted in partnership with a high profile institution near Tokyo, the National Cancer Center Hospital East, Kashiwa, Chiba, Japan. Sample collection will begin in Q2 2022.