Abstract
Simple SummaryCancer remains a worldwide concern with significant burdens on the population and healthcare systems. Studies have shown that early detection is paramount in positive patient outcomes, although the standard of care screening is limited to a few cancers. When a tumor cell dies, it releases DNA into the bloodstream. This cell-free DNA can be extracted, and specific mutations identified. Technologies based on this principle are gaining popularity amongst physicians for cancer patients to inform personalized treatment. Additionally, if platforms are sensitive enough, blood-based multi-cancer screening can be performed. DEEPGENTM is a next-generation sequencing platform that has been optimized for early cancer detection. This study is a preliminary analysis of cancer detection rates across seven cancers using the DEEPGENTM platform.This is an early clinical analysis of the DEEPGENTM platform for cancer detection. Newly diagnosed cancer patients and individuals with no known malignancy were included in a prospective open-label case-controlled study (NCT03517332). Plasma cfDNA that was extracted from peripheral blood was sequenced and data were processed using machine-learning algorithms to derive cancer prediction scores. A total of 260 cancer patients and 415 controls were included in the study. Overall, sensitivity for all cancers was 57% (95% CI: 52, 64) at 95% specificity, and 43% (95% CI: 37, 49) at 99% specificity. With 51% sensitivity and 95% specificity for all stage 1 cancers, the stage-specific sensitivities trended to improve with higher stages. Early results from this preliminary clinical, prospective evaluation of the DEEPGENTM liquid biopsy platform suggests the platform offers a clinically relevant ability to differentiate individuals with and without known cancer, even at early stages of cancer.
Highlights
Cancer is a major cause of mortality worldwide and a significant burden on patients as well as the healthcare system [1]
A representative set of patients with cancers of breast, lung, pancreas, liver, colon–rectum, prostate, or bladder ranging from stage I to IV and a control cohort were retrospectively selected to undergo processing and analysis
A family history of cancer was found in 38% of the cancer patients and 44% of the control patients
Summary
Cancer is a major cause of mortality worldwide and a significant burden on patients as well as the healthcare system [1]. Major challenges include the absence of early diagnosis at a large scale, especially for average risk individuals because the standard of care screening only exists for a limited number of cancers for this population [2]. Early detection using rapid, cost-effective, high-precision, and minimally invasive tools holds the promise to materially decrease morbidity and mortality in cancer [6,7]. Considering that dying cancer cells shed cell-free DNA (cfDNA) into the bloodstream, the ability to accurately detect these mutations broadly in the blood, especially at ultra-low variant allele frequencies (“VAF”, i.e., far below
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