On June 3, 2017, GRAIL, Inc., a life sciences company focused on the early detection of cancer, announced results from a study evaluating a novel high-intensity sequencing approach for detecting tumor signals in the bloodstream. Historically, research has focused on detecting a small number of clinically-actionable mutations in circulating cell-free DNA (cfDNA). This study evaluated the ability of a high-intensity sequencing approach to detect a more diverse range of tumor signals, including those that are less common. This broader and deeper approach will be required to develop tests that can detect the tiny amounts of tumor DNA in the blood, and accurately capture the diversity in genomic alterations that characterize the tumors of every person with cancer. In the study, blood and tumor tissue samples from 124 patients with various advanced cancers were sequenced with a 508-gene panel, yielding approximately 100 times more sequencing data than previous approaches. In 89 percent of patients, at least one of the mutations detected in the tumor tissue was also detected in the blood. When evaluating all genetic variations, including those present at high levels in tumor tissue as well as those at low levels, 627 of 864 mutations (73 percent) detected in tumor tissue were also detected in patients’ blood. “These encouraging results showed our high-intensity sequencing approach is able to detect a broad range of tumor mutations in the bloodstream with high levels of concordance with all mutations detected in tumor tissue,” said Alex Aravanis, MD, PhD, Head of Research & Development at GRAIL. “These important foundational data support the feasibility of our approach and will inform further development of blood tests to detect early cancer. We have now started evaluating our high-intensity sequencing approaches in people with and without cancer in our large-scale Circulating Cell-Free Genome Atlas (CCGA) study.”Login Or Register To Read Full Story