A new study demonstrates the efficacy of the 5-hydroxymethylcytosine (5hmC) signal detection technology from Bluestar Genomics, San Francisco, for use in identifying breast, lung, pancreatic, and prostate cancers.1 Using epigenetic markers found in a single blood draw, the company’s technology can noninvasively detect cancers and help to identify the underlying biology of the disease.
Samuel Levy, PhD, Bluestar Genomics.
Breast, lung, pancreatic, and prostate cancer make up 41% of all cancer incidence in the United States. Early detection and a deep understanding of each cancer remain critical for implementing the highest quality of care. Tissue biopsy is invasive; for many forms of cancer, screening methods are limited and often fall short of capturing the complete genomic landscape.
Bluestar Genomics uses liquid biopsy combined with 5hmC profiling to provide a detailed picture of the genomic landscape and identify potential biologic pathways that may be driving tumor progression.
“We have taken significant strides to strengthen our understanding of the underlying biology related to multiple forms of cancer and the tumor microenvironment,” says Samuel Levy, PhD, chief executive officer and chief scientific officer of Bluestar Genomics. “In addition to early-stage cancer detection capabilities, our knowledge of 5hmC distribution across the genome can potentially yield new candidate biomarkers. With this information, we will create clinical tools that can revolutionize oncology screening and have a significant impact on patient outcomes.”
Bluestar Genomics executed the study using multiple cell-free DNA samples to measure 5hmC profiles from patients with breast, lung, pancreatic, and prostate cancer. When used in conjunction with machine learning-based classification methods, their novel enrichment technology exhibited high performance in classifying these samples with area under the curve (AUC) measures of 0.89, 0.84, 0.95, and 0.83, respectively. The majority of the breast and pancreatic cancer samples were stage 1 or stage 2, validating Bluestar Genomics’ potential to aid clinical decisionmaking and detect cancer when treatment is most effective.
“There are significant limitations in screening for various cancers,” says Kelly Bethel, MD, chief medical officer at Bluestar Genomics. “Our research data outperforms screening PSA testing, the current standard of care screening blood test for prostate cancer. Detection of small early malignancies is challenging by usual imaging methods, and our platform technology also demonstrates the ability to detect the presence of malignant tumors smaller than 2cm. Overall, these findings suggest a clinical path toward early detection as part of a multicancer screening test.”
For more information, visit Bluestar Genomics.
Identification of a 5hmC signature that differentiates breast, lung, pancreas, and prostate cancers from controls. Logistic regression algorithms were trained for each cohort. Correction for smoking was performed in the lung cohort. Graph courtesy Bluestar Genomics.
Reference
1. Bergamaschi A, Ning Y, Ku CJ, et al. Pilot study demonstrating changes in DNA hydroxymethylation enable detection of multiple cancers in plasma cell-free DNA. medRxiv. Preprint posted January 27, 2020; doi: 10.1101/2020.01.22.20018382.
Featured image: Photo © Rido, courtesy Dreamstime (ID 90790743).
