Wobble Genomics has unveiled data demonstrating that its long-read RNA sequencing technology can detect rare full-length RNA transcript variants, achieving 80% sensitivity at 95% specificity in early-stage breast cancer detection. The findings, presented at the Early Detection of Cancer Conference (EDCC) in San Francisco, are based on a prospective clinical study involving 101 breast cancer patients and 101 age-matched controls.
Comprehensive Transcriptome Profiling
By building comprehensive transcriptome profiles using full-length RNA sequencing from liquid biopsies, Wobble Genomics demonstrated the ability to distinguish cancer-associated RNA sequences from controls. This approach has identified new, unique transcripts, creating a strong predictive diagnostic for early-stage breast cancer detection. The technology also holds potential for improved disease monitoring, treatment decisions, and accelerated drug development.
Novel RNA Transcripts
The study identified an average of over 600,000 RNA transcripts per patient, many of which were previously unseen. In comparison, public annotation databases contain approximately 250,000 transcripts in total. Wobble Genomics utilized these novel RNA transcripts to achieve high accuracy in early-stage breast cancer diagnostics. These new transcripts offer potential insights into human biology and medicine, leading Wobble Genomics to build a database for characterizing human diseases and identifying valuable biomarkers.
Expert Opinions
Dr. Mike Dixon OBE, Professor of Surgery, Consultant Surgeon, and Wobble Genomics collaborator, stated, "While still in early stages, Wobble Genomics’ technology has the potential to exceed current methods of sequencing-based liquid biopsy diagnostics for breast cancer by providing information on tumor type, cancer activity, and monitoring response to treatment. I am looking forward to the future development of the technology, and for what it could mean for patients and the fight against cancer."
Dr. Han-Yu Chuang, Consulting Chief Technology Officer, added, "Wobble Genomics’ technology now enables us to directly measure cellular functional states using full-length RNAs. Their diagnostic platform has achieved exceptionally high accuracy in one of the most challenging cancers to diagnose at early stages via liquid biopsy. The platform also unveils the genetic heterogeneity observed in cancer, making further strides towards early detection, progression monitoring, and treatment response."
Addressing Challenges in Blood Test Diagnostics
Wobble Genomics, established in 2021 and spun out of the Roslin Institute, University of Edinburgh, has been working to establish itself in long-read RNA sequencing. Long-read sequencing, recognized as Nature’s 2022 Method of the Year, is a relatively new technology. The main challenge in blood test diagnostics is detecting low abundance genes and associated RNA signals, which can act as markers of disease. Wobble Genomics has developed innovative solutions to address this challenge.
Dr. Richard Kuo, Founder and CEO of Wobble Genomics, said, "At Wobble Genomics, we are proud to share our novel methodology for detecting RNA that were previously invisible, because when you see more, you can do more. We are excited to now sharpen our focus on working with the scientific community, with a view to accelerating advancements in oncology and ultimately, patient care."
