A Brave New World
In Vitro Diagnostics
Felice Shieh, PhD
Senior Medical Science Liaison
Genoptix, Inc.
© 2013, Genoptix, Inc
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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
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© 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
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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
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In Vitro Diagnostic Process/Timeline
Assay
Development
PMA
Submission to
CDRH
Reviews,
Meetings,
Questions
Initial
Decision
Regular process ~137 days
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Real World Example of CDx Co-Approval
Cheng et al, New Biotech 2011
~5 years from development to FDA approval
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© 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
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Diagnostics and Patient Treatment
Melanoma Example
Conventional Rx
(chemo)
Dacarbazine
Biopsy
Malignant
Dermatoscopic
Exam
Benign
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Immunotherapy
Cytokine
(IL-2 IFN)
ipilimumab
Targeted Rx
(pre-selection
using Dx)
BRAFV600E
COBAS Dx
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Common Diagnostic Methods
Protein Dx - immunoassay
Molecular Dx - PCR
Sequencing
AND MANY MORE…
Karyotyping
Cytogenetics
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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
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© 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
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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
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© 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
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Who are the key players in the field?
Vysis - crizotinib
cobas BRAF test - vemurafenib
RGQ KRAS test - cetuximab
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What are the main challenges?
•
•
•
•
•
•
Establishing clinical utility
Clinical validation
IVD vs LDT and the FDA
Interpretation of results
Regulatory
Reimbursement
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© 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
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