In recent years, next-generation sequencing (NGS) of cell-free tumor DNA (cfDNA) has become a common part method of testing for genetic mutations in patients with cancer. Currently, most of these tests are tumor-specific and used after diagnosis to guide treatment selection. However, a new cfDNA test that is currently in development is designed to detect multiple different tumor types, with a goal of being used as diagnostic tool. Initial results from a case-control sub-study evaluating this test were published recently in Annals of Oncology.
Samples of 2482 patients with confirmed cancer diagnoses and 4207 individuals without cancer were screened using the test. The test was able to detect cancer with a 99.3% specificity and a 0.7% rate of false positives. Sensitivity was analyzed in a prespecified group including the 12 most common cancers (including anal, bladder, colorectal, esophageal, head and neck, liver/bile duct, lung, lymphoma, ovarian, pancreas, plasma cell neoplasm, and stomach). In this tumor group, the overall sensitivity was 67%, with higher sensitivity to detect more advanced disease. When cancers were detected, the test was able to correctly identify the tissue of origin in 93% of cases in the validation set.
The investigators concluded that this new test is able to detect a variety of cancers with a high specificity and low rate of false positives. Once confirmed in larger cohorts, this tool may be useful in screening individuals for a wide variety of cancers. However, the investigators caution that this tool is not meant to replace current guideline-endorsed screening tests, but may be used to support diagnosis of cancers where there are not currently available screening tools.
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