Scottish RNA sequencing company, Wobble Genomics, has announced that its technology can detect rare full-length RNA transcript variants not picked up by other methods, detecting early-stage breast cancer with a sensitivity of 80%.

The Edinburgh-based company presented data at the Early Detection of Cancer Congress  (EDCC) in San Francisco based off a prospective clinical study of 101 breast cancer patients alongside an age-matched control cohort of 101 individuals without breast cancer.

The aim of the study was to build comprehensive transcriptome profiles using full-length RNA sequencing from liquid biopsies, by doing this the company sought to demonstrate that it was able to separate cancer-associated RNA sequences from the control group, resulting in a 95% specificity rating for its sequencing system.

Now, the company aims to parse this breakthrough into a predictive diagnostic designed to detect early-stage breast cancer.

Richard Kuo, founder, and CEO of Wobble Genomics said: “We are in an exciting new era of healthcare, with the advent of new cancer therapies that have the potential to save millions of lives, and to fulfil this new potential we need the tools to see cancer in a more informative way.

Coming out of stealth with its announcement, Wobble Genomics was originally founded in 2021 as a spin-out of the Roslin Institute at the University of Edinburgh. The company claims that within its study it was able to identify on average more than 600,000 RNA transcripts per patient, with most of these transcripts being seen for the first time. The company is now building a database of these novel transcripts.

Han-Yu Chuang, consulting chief technology officer, said: “In the past, DNA has been central to the development of molecular diagnostic tools that have enabled the introduction of precision medicine in recent years. However, DNA has a limited scope when it comes to its utility as a diagnostic option and, as such, it can be hard to unveil the complex disease biology underlying cancers. Wobble Genomics’ technology now enables us to directly measure cellular functional states using full-length RNAs.”

Earlier this month the UK government announced the creation of a new Regulatory Innovation Office that, among its other remits, will establish new voluntary screening guidance for synthetic nucleic acid that allows companies to create DNA and RNA. Elsewhere in the field of diagnostic devices, US-based NeoGenomics has secured conditional approval from the New York State Department of Health (NYSDOH) for two of its next-generation sequencing (NGS) tests.