TORONTO, May 16, 2023 – The majority of cancer-related deaths worldwide are caused by non-small-cell lung cancer (NSCLC), and even after the tumour has been surgically removed, between 30 to 55 percent of NSCLC patients experience a recurrence because of minimum residual disease (MRD). It has been demonstrated that circulating-free DNA (cfDNA) fragmentomic characteristics offer tremendous potential for tracing the origin of tumors in lung cancer. Researchers from Jiangsu Cancer Hospital and Nanjing Geneseeq Technology Inc. recently released a prospective study in Cancer Research Communication that expands on the clinical value of DNA fragmentomic characteristics in MRD identification for post-surgical NSCLC patients.

This study enrolled 87 NSCLC patients who underwent curative surgical resections (23 patients experienced relapses during follow-up). A total of 163 plasma samples were collected at 7 days and 6 months post-surgery and were used for both whole-genome sequencing (WGS). The WGS-based cell-free DNA (cfDNA) fragment profile was used to develop regularized Cox regression models, and the models’ performance was evaluated using leave-one-out cross-validation.

The ultra-sensitive and affordable fragmentomic assay has shown promising results in detecting patients who are at high risk of recurrence. The fragmentomic model was able to detect high-risk patients at 7 days and 6 months post-surgery with an increased risk of 4.6 times and 8.3 times, outperforming the targeted sequencing-based circulating mutations. The overall sensitivity for detecting patients with recurrence reached 78.3% while using both fragmentomics and circulating mutation results from 7 days and 6 months postsurgical, which increased from the 43.5% sensitivity by using only the circulating mutations.

“The non-invasive liquid biopsy assay can effectively detect landmark MRD, which could aid in making informed decisions for post-surgery treatment.”, says Dr. Hua Bao, author and director of Geneseeq Research Institute.