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Use of the Ion Torrent Next Generation Sequencing Platform for Rapid and Accurate Diagnosis of Childhood Cancers

  • Project Leaders: Poul Sorensen
  • Institutions: BC Cancer Agency (BCCA)
  • Budget: $321,004
  • Competition: Proof of Concept - Round 3
  • Genome Centre(s): Genome BC
  • Fiscal Year: 2012
  • Status: Closed

Childhood solid malignancies often present as soft tissue masses with undifferentiated small round cell morphologies by microscopic examination. The primitive features of these tumors often complicate accurate diagnosis, which is critical to assign patients to the most appropriate therapeutic protocols. This project aims to develop a simple and direct assay based on next generation sequencing using the Ion Torrent Personal Genome Machine (IonT PGM), for sequence based identification across multiple known genetic alterations associated with childhood solid tumors, for more accurate diagnosis of tumor types. This group has successfully developed the technology to a level that has allowed the investigators to achieve commercialization of the ChildSeq-RNA and ChildDecode assays. The group has incorporated (BC and Federal) Fusion Genomics Corporation. Fusion Genomics has now established a “letter of intent” with various commercial groups including: Integrated DNA Technologies, Spiral Genetics & D-Mark BioSciences (Kappa Bio-Sciences). The company has also established a “contracted” relationship with Investigative Drug Program (at the BC Cancer Agency) for GMP manufacturing of its ChildSeq-RNA assay. The company has established a “Collaborative Research Agreement” with Baylor college of Medicine, and is in the process of establishing agreements with, St Paul’s and Women’s & Children Hospitals in Vancouver, BC and an international consortium of cancer hospitals based in Asia. With the Asian partners, Fusion will also be establishing a state of the art bio-bank, to cater to all of Fusion R&D needs.