GenomeMiner: a software tool enabling personalized cancer medicine

The overall idea of this project is to develop an analytical tool for personal cancer treatment based on sequence data. This tool will read the patient's genetic profile (based on sequencing of patient DNA) and use advanced analytics, assisting the doctor (oncologist) in order to administer the best treatment for the individual patient. We have finalized GenomMiner - version 01, and the product is ready for commercialization. The product have been through extensive testing as part of BGI's personalized cancer treatment pipeline. The final version of GenomeMiner is integrated in BGI's Tumor Care pipeline that currently are being offered in the clink. GenomeMiner currently offer the following functionality: 1. Point mutations categorized according to the "seriousness". 2. Affected genes with chromosome position, flagging of possible cancer type gene (oncogenic vs. tumor suppressor) and viewing of translated proteins showing functional domains and point mutations. 3. Treatments (drugs), both approved and those being tested and information about treatment approval from the FDA. 4. Literature links to related treatments and "state-of-the-art" research information. 5. Related clinical studies and a framework for searching and filtering of these 6. Matching of patient mutation profile (BGI sequencing results) with clinical studies 7. Background information from mutation database COSMIC. 8. Analysis of copy number variations and gene expression data. 9. Command line service supporting batch mode analysis. 10. Dedicated API adapted to BGI's pipeline. Our collaboration with BGI have now entered into commercial/product collaboration. A commercial agreement have been outlined, and are currently being reviewed by both parties, and is expected to be signed early Q3 2015.

The dawn of personalized medicine promises to revolutionize the field of cancer. Tumors will no longer only be classified and treated based on anatomical and pathological findings, but will also be individually genotyped and treated according to their spe cific mutational profile. The innovation is a software tool named GenomeMiner, to enable personalized cancer medicine. The tool will facilitate the interpretation of complex genome mutation profiles extracted from a patient's tumor. The tool will act as a guide, helping the oncologist match relevant or druggable mutations from a tumor to tailored therapies and clinical trials, based on the associated dysfunctional molecular pathways. The tool will also employ learning algorithms to build associations betw een patient profiles and treatment responses over time, in order to make more informed and improved recommendations for new patient cases. The major R&D challenges are the creation of a comprehensive gold-standard cancer mutation database and applying nov el ranking and learning algorithms. In addition there is a challenge to develop an intuitive web-based tool. The project will provide a commercial product to be marketed worldwide. There are over 1,400 accredited cancer units in the US alone, who could b enefit from the product, and we have identified clear marketing channels for distributing the product. Our preliminary estimates suggest that product could generate annual revenues of $50mUS through licensing fees, if it can penetrate 20% of the US & EU m arkets.