HealthDay News — Three assays may detect early lung cancer in blood samples using genome sequencing, according to a study presented at the annual meeting of the American Society of Clinical Oncology, held from June 1 to 5 in Chicago.

Geoffrey R. Oxnard, MD, from the Dana-Farber Cancer Institute in Boston, and colleagues prospectively collected blood from 749 controls (with no cancer diagnosis) and 878 patients with newly-diagnosed untreated cancer, including 127 patients with lung cancer. Three sequencing assays were performed: paired cell-free DNA (cfDNA) and white blood cell (WBC) targeted sequencing for single nucleotide variants/indels; paired cfDNA and WBC whole genome sequencing (WGS) for copy number variation; and cfDNA and WBC whole genome bisulfite sequencing (WGBS) for methylation. 

Overall, 127 patients with lung cancer and 580 controls were evaluated. The researchers found that more than 50% of the 3,055 nonsynonymous mutations detected across 122 evaluable patients with lung cancer were detected in WBC consistent with clonal hematopoiesis. At a specificity of 98%, the WGBS, WGS, and targeted assays detected 41, 38, and 51% of early-stage (I to IIIA) cancers, and 89, 87, and 89% of late-stage (IIIB to IV) cancers. Five (<1%) of the control samples had a cancer-like signal; two of these were subsequently diagnosed with cancer.

“These are promising early results, and next steps are to further optimize the assays and validate results in a larger group of people,” Oxnard said in a statement.

The study was funded by GRAIL, Inc.

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