A recent study published in JAMA Network Open by Tempus AI, Inc. demonstrates that concurrent RNA- and DNA-based next-generation sequencing (NGS) significantly improves the detection of actionable structural variants in patients with advanced non-small cell lung cancer (NSCLC). The retrospective study, involving over 5,500 patients, highlights the clinical benefits of combining RNA and DNA sequencing for comprehensive genomic profiling.
The study revealed that 8.8% of patients had at least one actionable variant—specifically, ALK, RET, ROS1, or NTRK1/2/3 fusions, or MET exon 14 skipping alterations—identified through either RNA or DNA sequencing. Importantly, the concurrent use of both sequencing methods resulted in a 15.3% increase in the identification of patients with actionable variants compared to DNA sequencing alone. Furthermore, the combined approach more than doubled the detection of emerging, rare structural variants.
Halla Nimeiri, MD, Chief Development Officer at Tempus, emphasized the importance of these findings, stating, "This large study underscores the importance of using both RNA- and DNA-based comprehensive genomic profiling as a standard of care in advanced NSCLC, and more broadly in solid tumors. By integrating RNA and DNA sequencing, we can detect a wider range of actionable alterations that might otherwise go undetected by DNA testing alone. This combined approach enhances clinicians' ability to provide more personalized treatment options for patients."
Implications for Precision Medicine
The enhanced detection of actionable variants through concurrent RNA and DNA sequencing has significant implications for precision medicine in NSCLC. Identifying these variants allows clinicians to tailor treatment strategies to individual patients, potentially improving outcomes. The study supports the broader adoption of combined RNA and DNA sequencing in clinical settings to maximize the detection of structural variants and inform personalized treatment decisions.
Study Methodology
The retrospective study analyzed data from over 5,500 patients with advanced NSCLC who underwent both RNA- and DNA-based NGS. The researchers compared the detection rates of actionable structural variants between the two sequencing methods. The primary endpoint was the identification of ALK, RET, ROS1, or NTRK1/2/3 fusions, or MET exon 14 skipping alterations. Secondary endpoints included the detection of other emerging, rare structural variants.
About Tempus
Tempus is a technology company focused on advancing precision medicine through the application of artificial intelligence in healthcare. The company has built one of the world’s largest libraries of multimodal data and an operating system to make that data accessible and useful. Tempus provides AI-enabled precision medicine solutions to physicians to deliver personalized patient care and facilitates the discovery, development, and delivery of optimal therapeutics.
