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This presentation was given by Dr Geoff Otto of Foundation Medicine, Inc, at the Association for Molecular Pathology Annual Meeting on November 12, 2014.
Topics covered in this video:
- Cancer is a Disease of the Genome
- Diagnostic Challenges of Clinical Cancer Specimens
- The FoundationOne Assay, a NGS-based solution for solid tumors
- Hallmarks of Cancer: Altered Regulation and Function of Multiple Different Cellular Pathways Leads to Cancer
- The Alterations Relevant to an Individual Patients Disease are Unique
- Cancer is a Disease to the Genome
- Therapies targeting the alterations that drive an individuals patient's cancer can yield dramatic results
- Diagnostic challenge: How to deliver comprehensive genomic profile to the clinic
- Molecular profile of a NSCLC Tumor Specimen (2011 case study)
- NCCN Recommended Profiling Requires Multiple Assays for Relevant Genomic Alterations in Only 3 Genes
- Low Sensitivity of Sanger Sequencing Limits Detection of Base Substitutions and Indels in Typical Specimens
- Technology limits accuracy of Traditional Assays for the detection of genomic alterations in tumor samples
- Requirements of an improved clinical cancer Dx Assay
- Technological revolution of Next Generation Sequencing redefines the limits of Molexular Dx
- Hybrid Capture enables utilization of NGS for comprehensive profile of clinical oncology specimens
- Multiple challenges to building a hybrid capture-based assay for comprehensive genomics profile in cancer
- Iterative optimization of hybrid capture enables highly uniform and deep coverage across hundreds of genes
- Deep unique coverage enables highly accurate and reproducible detection of base subs and indels
- High uniform coverage and select introns is required to detect known and novem genomic rearrangements
- Hybrid capture of known introns enables detection of known and novel genomic rearrangements
- Hybrid capture is highly reproducible and has a high dynamic range
- Reproducible and highly uniform coverage enables detection of copy number alterations at low purity
- Delivering a comprehensive genomic profile in a clinical setting requires an integrated end-to-end workflow
- Analytical Validation
- Application of FoundationOne to Clinical Specimens
- FoundationOne for Solid Tumors
- Molecular Profile of the 2011 NSCLC Tumor Specimen: "pan-negative" by Traditional Assays
- FoundationOne detected a Novem KIF5B-RET Fusion
- Genomic profile versus the "conventional" approach
- Paired CT Scans of Patient with TRIM33-RET
- Pan-Negative NSCLC Study
- HER2/ERBB2 Alterations across 27 Tumor Types
Published on: July 29, 2015