Caris Life Sciences® (Caris), a leading next-generation AI TechBio company and precision medicine pioneer, has officially published the results from its latest study called Characterization of plasma cell-free DNA variants as of tumor- or clonal hematopoiesis-origin in 16,812 advanced cancer patients.
According to certain reports, the study in question leveraged Caris Assure™ blood-based profiling to show how CH-associated variants, which are highly prevalent in cancer patients, can often overlap with therapeutic targets. Hence, these findings effectively relay the importance of distinguishing CH- from tumor-derived mutations, if the agenda is to improve diagnostic accuracy and guide appropriate cancer therapy.
More on the given research would reveal how it characterized plasma cell-free DNA (cfDNA) variants of tumor, CH or germline origin in an estimated 16,812 patients with advanced cancer, using Caris Assure to do the job. In case you weren’t aware, Caris Assure sequences both the plasma and buffy coat through a proprietary whole exome and whole transcriptome assay.
For better understanding, we must acknowledge the fact that CH occurs when a mutation-carrying hematopoietic stem cell produces blood cells with the same mutation. Now, as people age, these mutations build up in the blood and can be confused with cancer cells during blood tests, leading to false positives that complicate treatment decisions.
Anyway, talk about the published results on a slightly deeper level, CH variants were detected, for starters, in 42.3% of patients, with 76% of CHEK2, 66.5% of BRCA2 (66.5%), and 58.6% of BRCA1 somatic-derived variants arising from CH.
Next up, the study discovered that those CH rates increased with age from 20% in patients aged 65-69 years to 50% in patients aged 80 and older.
Another detail the study reached upon was that high CH rates were found in otherwise actionable genetic variants associated with PARP inhibitor (PARPi) therapies in breast, ovarian, pancreatic, prostate and endometrial cancer. Out of this lot, nearly 6% of prostate cancer patients were found to have a CH mutation in a PARPi-associated gene.
“Without accurate CH classification, oncologists risk recommending therapies based on mutations that do not come from the tumor,” said George W. Sledge, Jr., MD, EVP and Chief Medical Officer of Caris and study author. “Caris Assure is the only blood profiling assay on the market that uses sequencing rather than algorithmic estimations to accurately determine the mutational origin, to our knowledge.”
Among other things, it must be acknowledged that the study was performed in collaboration with members of the Caris Precision Oncology Alliance™ (Caris POA), which includes 96 cancer centers, academic institutions, research consortia and healthcare systems. These healthcare systems, on their part, include 47 NCI-designated cancer centers, all of them collaborating to advance precision oncology and biomarker-driven research.
Caris and POA members are also working together to establish and optimize standards of care for molecular testing through innovative research focused on predictive and prognostic markers that can improve clinical outcomes for cancer patients.
Founded in 1996, Caris Life Sciences’ rise up the ranks stems from developing and delivering innovative solutions to revolutionize healthcare and improve the human condition. The company’s primary approach, at the moment, is to leverage comprehensive molecular profiling (Whole Exome and Whole Transcriptome Sequencing), along with advanced AI and machine learning algorithms, to create large-scale, multimodal database and computing capability. You see, the stated capability is needed when analyzing and unpacking the molecular complexity of disease.
Operating out of Irving, Texas, Caris currently has offices in Phoenix, New York, Cambridge (MA), Tokyo, Japan and Basel, Switzerland.
“This study, the largest of CH in cfDNA to date, sets a new benchmark for liquid biopsy accuracy and cancer care,” said David Spetzler, Caris President and study author, MS, PhD, MBA. “By leveraging paired plasma and buffy coat analysis, Caris Assure accurately identifies CH variants, providing clinicians with precise insights into tumor biology and ensuring that every treatment decision is based on the most reliable information available.”
