A Brave New World In Vitro Diagnostics Felice Shieh, PhD Senior Medical Science Liaison Genoptix, Inc. © 2013, Genoptix, Inc . Agenda Introduction to Diagnostics Felice Shieh, PhD Companion Diagnostics Mark Reynolds, PhD Next Generation Sequencing in the Clinical Lab Norm Nelson, PhD Genetic Counseling and Patient Concerns Theresa Boomer, CG/MB(ASCP)CM Health Economics Michael Pollock 2 © 2013, Genoptix, Inc. Objectives • Understand the meaning of a diagnostic and its role in patient treatment algorithm • Understand the current diagnostic landscape • Understand where to find resources and information on diagnostics 3 © 2013, Genoptix, Inc. Definitions and Common Terminology • Diagnostic – test used to identify a possible disease or disorder • Companion Diagnostic - test to preselect patients for specific treatments • In Vitro Diagnostic - medical devices/biological products are regulated by set standards/codes • Research Use Only – not for use to make clinical decisions • Laboratory Developed Test – test developed within individual lab setting, can be used for clinical decisions 4 © 2013, Genoptix, Inc. In Vitro Diagnostic Process/Timeline Assay Development PMA Submission to CDRH Reviews, Meetings, Questions Initial Decision Regular process ~137 days 5 © 2013, Genoptix, Inc. Real World Example of CDx Co-Approval Cheng et al, New Biotech 2011 ~5 years from development to FDA approval 6 © 2013, Genoptix, Inc. Common Types of Diagnostics • Molecular diagnostic – use of genomic or proteomic expressions/variants • Immunodiagnostic – use of antigen-antibody reaction • Symptomatic diagnostic – use of signs, indications, clinical characteristics • Radiological diagnostic – use of imaging technologies • Point of care – medical testing at or near site of patient • Direct to customer – commercially available to consumer testing 7 © 2013, Genoptix, Inc. Diagnostics and Patient Treatment Melanoma Example Conventional Rx (chemo) Dacarbazine Biopsy Malignant Dermatoscopic Exam Benign 8 Immunotherapy Cytokine (IL-2 IFN) ipilimumab Targeted Rx (pre-selection using Dx) BRAFV600E COBAS Dx © 2013, Genoptix, Inc. Common Diagnostic Methods Protein Dx - immunoassay Molecular Dx - PCR Sequencing AND MANY MORE… Karyotyping Cytogenetics 9 © 2013, Genoptix, Inc. Current Diagnostic Landscape Global IVD Market (2012) Hemostasis Microbiology 5% 3% • • • • Self-monitoring glucose 19% Immunochemistry 36% $44 billion globally in 2011 CAGR of 7.8% U.S. represents ~ 47% Molecular diagnostic is largest growing segment Tissue Diagnostics 7% Hematology 7% Point of care 12% Molecular Diagnostics 11% http://www.marketsandmarkets.com/Market-Reports/in-vitro-diagnostics-ivd-market-547.html 10 © 2013, Genoptix, Inc. Current Diagnostic Landscape Molecular Dx Applications US Molecular Clinical Dx Market Cancer, 11% Pharmacogenomics, 11% Genetics, 7% Infectious diseases, 71% Molecular Dx >$4.8 Billion in 2011 @ CAGR of 9.1% http://www.prweb.com/releases/Molecular/diagnostics/prweb10179525.htm 11 © 2013, Genoptix, Inc. Current Molecular Diagnostic Assays Examples of high-impact assays approved Disease Assay HIV cobas, OraQuick HPV Qiagen/Digene, cobas MRSA Cepheid Xpert Breast Mammaprint Melanoma cobas Lung Abbott Vysis Brock, American Lab 2012 12 © 2013, Genoptix, Inc. Current Companion Diagnostic Landscape Examples of approved CDx and Drug Disease Diagnostic Drug Breast Cancer Her2 (Dako) Herceptin CRC KRAS (Qiagen) Erbitux HIV CCR5 (Monogram) Selzentry Leukemia BCR/ABL Gleevec, Tasigna Lung ALK (Abbott) EGFR (Roche) Crizotinib Erlotinib Melanoma BRAF (Roche) Zelboraf Brock, American Lab 2012 13 © 2013, Genoptix, Inc. Who are the key players in the field? Vysis - crizotinib cobas BRAF test - vemurafenib RGQ KRAS test - cetuximab 14 © 2013, Genoptix, Inc. What are the main challenges? • • • • • • Establishing clinical utility Clinical validation IVD vs LDT and the FDA Interpretation of results Regulatory Reimbursement 15 © 2013, Genoptix, Inc. What resources can you use to find more information? • Searchable database of FDA-approved or FDA-cleared assays: http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfPMN/pmn.cfm • FDA IVD general informationhttp://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/I nVitroDiagnostics/default.htm • FDA IVD Regulation– • http://www.fda.gov/medicaldevices/deviceregulationandguidance/ivdr egulatoryassistance/ucm123682.htm#1 • Market Research – Frost and Sullivan, LEK, Research and Markets • Guidelines – NCCN, ASCO, ACOG, CAP • Good sources for updates – Genome Web, CAP Today 16 © 2013, Genoptix, Inc.