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. Lörincz, 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.

References

Glossary

Index