Molecular Diagnostics: New Growth, New Markets

Table of Contents

Chapter 1. Introduction

• 1.1. Historical Overview of Molecular Diagnostics
• 1.2. The Molecular Diagnostics Market Today and in the Near Future
• 1.3. Personalized Medicine and Molecular Diagnostics
  • The Twofold Role of Molecular Diagnostics in Personalized Medicine
  • Historical Overview of Pharmacogenetics and Pharmacogenomics
  • Separating the Utopian Vision of Personalized Medicine from its Utilitarian Reality
• 1.4. Market Drivers
• 1.5. What Molecular Diagnostics Cannot Do: Predict the Environment

Chapter 2. The Technological Landscape

• 2.1. Introduction
• 2.2. Nucleic Acid Amplification Technologies
  • Polymerase Chain Reaction (PCR)
  • Post-PCR Analysis
  • The $1,000 Genome
  • Reverse Transcription--PCR
  • Real-Time, or Quantitative, PCR
  • PCR Patent Expirations
  • Non-PCR Target Amplification Technologies
• 2.3. Signal Amplification Tests (Direct Probe Tests)
• 2.4. The Microarray Platform
  • Gene Expression Analysis
  • The AmpliChip CYP450 Array
  • A Word About Single Nucleotide Polymorphisms
• 2.5. Molecular Cytogenetics: Fluorescence In Situ Hybridization
• 2.6. Gene Methylation, or Epigenetic, Technology
• 2.7. Proteomic Diagnostics
  • Aptamers
• 2.8. Nanodiagnostics
• 2.9. Enabling Technological Trends
  • Multiplexing
  • Noninvasive Technology
  • Miniaturization
  • Integration
  • Automation
• 2.10. Lack of Standardization: A Major Challenge

Chapter 3. Molecular Diagnostics Applications

• 3.1. Infectious Disease Diagnostics
  • Human Immunodeficiency Virus (HIV)
  • HIV Resistance Testing
  • Hepatitis C Virus
  • Hepatitis B Virus
  • Bacterial Infectious Disease Testing
• 3.2. "Traditional" Genetic Testing: Monogenic Disease Risk Assessment and Prenatal Testing
  • Cystic Fibrosis
  • Prenatal Testing
• 3.3. Oncology
  • Leukemias and Lymphomas
  • HER-2/neu Testing
  • Other Uses of Pharmacogenomics in Oncology
  • Human Papillomavirus Testing
  • The Case for Human Papillomavirus Testing
  • Gene Expression Technology and Cancer
• 3.4. Cardiovascular Testing
  • Cardiovascular Pharmacogenomics
• 3.5. Molecular Diagnostics Outside of the Clinic
  • Biothreat Detection
  • Agricultural and Livestock Applications
  • Identity Testing

Chapter 4. The Molecular Diagnostic Landscape: Obstacles Ahead

• 4.1. Regulatory Challenges
  • FDA-Regulated versus Homebrew Testing
  • Pharmacogenetic/Genomic Regulation
  • "Guidance for Industry: Pharmacogenomic Data Submissions"
  • Drug-Diagnostics Co-Development: Regulatory Challenges
  • Multiplex Test Regulation
• 4.2. Reimbursement and Coverage of Molecular Diagnostic Tests and Services
  • Genetic Discrimination
• 4.3. Consumer and Clinician Education
  • Direct-to-Consumer Marketing: Consumers Changing Health Care
  • Clinician Awareness
• 4.4. The Path of Least Resistance

Chapter 5. The Business of Molecular Diagnostics

• 5.1. Introduction
• 5.2. Major Types of Molecular Diagnostic Companies
• 5.3. How Personalized Medicine Will Impact Molecular Diagnostics
  • The Cost-Effectiveness of Pharmacodiagnostics
• 5.4. Advantages for Pharma

Chapter 6. Expert Interviews

• Charles R. Cantor, Ph.D., SEQUENOM, Inc.
• Steven I. Gutman, M.D., U.S. Food and Drug Administration
• Nathan D. Lakey, Orion Genomics, LLC
• Jorge A. Leon, Ph.D., Leomics Associates
• Attila T. Lorincz, Ph.D., Digene Corporation
• David A. Okrongly, Ph.D., Bayer HealthCare, LLC

Chapter 7. Selected Company Profiles

• Digene Corporation
• Genaissance Pharmaceuticals, Inc.
• MetriGenix Corporation
• Monogram Biosciences
• Orchid Cellmark
• Orion Genomics
• SEQUENOM, Inc.
• Solexa, Inc.
• Stratagene
• Third Wave Technologies, Inc.