CAMBRIDGE, UK and RESEARCH TRIANGLE PARK, NORTH CAROLINA, USA, October 18, 2022 – Biofidelity, a revolutionary genomic technology company, has developed a low-cost, simple and rapid assay for single-molecule detection of multiple gene fusions from RNA. A new scientific paper describes the assay and how detecting these fusions faster and at a lower cost has the potential to revolutionize patient care and make precision medicine globally accessible to more people.
Published online in BMC Medical Genomics, the paper expands on a previous scientific report introducing the technology and details the RNA capabilities of ASPYRE®, which can analyze DNA and RNA concurrently from a single patient sample. Biofidelity has initially developed the novel assay for single-molecule detection of multiple gene fusions for non-small cell lung cancer patients (NSCLC).
“RNA is an under-utilized but critical tool for oncology,” said Biofidelity CMO Dr. Wendy Levin. “We have demonstrated that our technology provides ultra-sensitive detection of multiple gene fusions directly from RNA concurrently, ensuring that no patient misses out on the promise of precision medicine.”
Today, there are more than ten effective targeted therapies available to treat NSCLC patients whose tumor harbors a gene fusion. These targeted treatments offer an alternative to chemotherapy regimens, often with less harsh side effects and better results. Five-year survival rates for lung cancer have tripled since targeted therapies became available in 2010.1
Some currently available next generation sequencing assays target large genomic regions in DNA where translocations occur and, when abnormalities are detected, infer that they lead to the production of RNA fusions. This strategy can result in as many as 25% of fusions being missed.2 Missed fusions mean that a significant number of patients will not receive the targeted therapy that is likely to provide them with the most benefit.
“Our breakthrough technology, ASPYRE, fits into the underserved space between NGS and PCR testing enabling fast clinical decision-making through simple, precise, and targeted identification of panels of genomic biomarkers,” said paper co-author Dr. Barnaby Balmforth, Biofidelity Co-founder and CEO. “ASPYRE makes genomic data more accessible and easier to interpret, helping to ensure that all patients, globally, have the information needed to receive the right treatment at the right time.”
While several RNA specific next generation sequencing panels are now available, they can cost as much as $5,000 in additional testing. Conversely, ASPYRE technology offers a low-cost panel for all actionable genes in NSCLC and the ability to return results in as little as two days.
In addition to effectively identifying gene fusions from RNA, ASPYRE employs readily available PCR instrumentation to run its innovative diagnostic testing, yet its dramatically simplified workflow integrates easily into existing laboratory workflows.
The full paper published in BMC Medical Genomics can be accessed here.
1Arbour KC, Riely GJ. Systemic Therapy for Locally Advanced and Metastatic Non-Small Cell Lung Cancer, A Review. JAMA. 2019; 322(8):764-774
2Benayed R, Offin M, et al. High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung in Adenocarcinomas with no Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden. Clinical Cancer Research. 2019 Aug 1; 25(15):4712-4722
Biofidelity is a revolutionary genomic technology company dedicated to unleashing the potential of genomics to transform human health and the world we live in. The company’s adaptive platform technology removes the noise from genomic data, providing only the information needed to make decision making less complex, faster, and more accurate.
Founded in 2019, Biofidelity is a rapidly growing private company of scientists, engineers, physicians and commercial experts dedicated to making genomics globally accessible.
For more information, please visit biofidelity.com and connect with us on LinkedIn and Twitter.
Biofidelity’s unique ‘Allele-Specific PYrophosphorolysis REaction’ (ASPYRE) is the enabling technology behind Simplified Molecular Profiling, making it possible to generate assays that accelerate the detection of actionable biomarkers. The ASPYRE technology is used to create targeted, multigene biomarker panels that are ultrasensitive, highly specific, and capable of returning results in as little as two days.
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