Molecular Diagnostics: New Growth, New Markets

SUMMARY

Molecular Diagnostics: New Growth, New Markets highlights current trends in the molecular diagnostic industry and the major prospects and challenges ahead. Advancing technologies are pushing the diagnostics industry to the fore, and the molecular diagnostics industry in particular is emerging as a powerful health care player with tremendous potential. Advances in PCR (polymerase chain reaction), multiplexing, sequencing, and other technologies are propelling both new and old companies forward with novel capabilities.

The molecular diagnostic industry is characterized by a very diverse, constantly changing technology base that continuously produces new opportunities and applications. Similarly, a growing understanding of the molecular basis of cancer and other chronic diseases is opening up new realms of medicine to the possibilities of molecular diagnostic testing. While the infectious disease sector, particularly viral load testing, will continue to occupy the largest sector of the molecular diagnostics market, other areas, particularly oncology, will see greater rates of growth in the near future.

Molecular Diagnostics: New Growth, New Markets offers a comprehensive evaluation of this dynamic market. Highlights include the following:

• A historical overview of molecular diagnostics, an analysis of the role of diagnostics in the growing field of personalized medicine, and a summary of major market trends and drivers.
• A review of the dominant and emerging applications of molecular diagnostics, with a focus on major areas of robust growth. Although PCR is the most important molecular diagnostic technology, there are other dominant techniques generating considerable profits. The report identifies and evaluates the tremendous opportunities in the marketplace for new, improved technologies.
• An assessment of the industry-landscape in terms of key non-technological trends and challenges, with a focus on regulation, consumer and health care provider education and marketing, and reimbursement.
• An evaluation of the emergence and growth of personalized, or pharmacogenomic, medicine, which is providing tremendous revenue opportunities for molecular diagnostics. The challenge for molecular diagnostics companies will be to generate profits while forming cooperative relationships with pharma, regulatory agencies, consumers, and other stakeholders in ways that facilitate drug-diagnostic co-development and end in a win-win-win situation for all parties.
• An examination of molecular diagnostic business models in the context of factors that are expected to drive the industry forward.
• Profiles of a select list and description of companies that have shown remarkable progress in the field, smaller companies that are expected to emerge as dominant players in particular content or technological areas, and companies that exemplify a noteworthy aspect of molecular diagnostic business.

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. 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.