Clinical Genomics: The Impact of Genomic Technology on Clinical Trials and
Medical Practice assesses the challenges and future prospects for incorporating
genomics technologies into standard clinical practice. The report examines some
of the ways in which genomics could directly contribute to clinical practice,
evaluates the scientific, technological, legal, and regulatory issues that will
have a significant impact on the future adoption of genomics in clinical
settings, and discusses the emerging business opportunities that will arise as
the widespread application of genomics to clinical drug development,
diagnostics, and medical practice comes to fruition.
Recent events suggest that genomics may finally be poised to make a
significant contribution to clinical practice in the near future. In 2003, the
Human Genome Project completed the sequence of all human genetic material,
providing an essentially complete catalogue of all human genes. Since the
practice of genomics relies on large-scal e, comprehensive analyses of genes,
this information will prove very valuable in speeding the implementation of
genomics in clinical settings.
Furthermore, the U.S. federal government is emerging as a driving force for
the adoption of genomics in clinical settings. In 2003, two major U.S. federal
agencies issued reports indicating that implementation of genomics in the clinic
is of high priority. The National Institutes of Health (NIH) issued a vision
statement summarizing how genomics can contribute to the future of the practice
of medicine. The U.S. Food and Drug Administration (FDA) issued draft guidelines
for the submission of genomic data in drug applications, signifying a
potentially pivotal change in the use of genomics in drug development.
The clinical genomics environment is ripe with opportunities for all players
in the field—pharmaceutical companies, biotech firms, diagnostics
manufacturers, tool suppliers, and researchers—as the NIH and FDA make it
clear that increased use of genomics in the practice of medicine and drug
development is both anticipated and encouraged. Howe ver, clinical genomics is
far from widespread and still faces significant hurdles. Clinical Genomics: The
Impact of Genomic Technology on Clinical Trials and Medical Practice examine the
most important factors that will impact the transition towards more extensive
adoption of genomics technologies in clinical trials and medical practice. This
report offers critical strategic guidance to all companies participating in the
application of genomics to the prediction, detection, and diagnosis, and
treatment of disease.
Table of Contents
Executive Summary
Chapter 1. Introduction
- 1.1. Genomics in the Clinic
- -A Vision of the Future
- -Definition of Clinical Genomics
- -The Human Genome
- 1.2. Prec linical Versus Clinical Applications of Genomics
- 1.3. Impact of Human Genome Information
- -The Human Genome Project
- --Brief Timeline of Human Genomics
- -Major Discoveries About the Human Genome
- -NIH Forecast of the Impact of Genomics
- --NHGRI Vision for the Future of Genomics
Chapter 2. Promises and Challenges of Clinical Genomics
- 2.1. The Promise of Clinical Genomics
- -Advantages of a Genomics Approach
- -Potential Impact on Medical Practice
- -Potential Impact on Drug Development
- 2.2. Challenges in the Field
- -Scientific Challenges
- -Technological Challenges
- -Regulatory Challenges
- -Legal Challenges
- -- The Biojudiciary Project
- -Economic Challenges
- -Sociological and Cultural Challenges
- Commentary by Geoffrey Ginsburg, Millennium Pharmaceuticals
-
Chapter 3. Clinical Genomics Applications:
- Prediction, Detection, and Diagnosis
- Genomic Characteristics with Clinical Applications
- 3.1. Determining Risk of Disease
- -Inherited Genetic Variation
- -Categories of Inherited DNA Diseases
- -Single-Gene Genetic Disorders
- -Multifactorial Disorders
- --Genetic Origin of Cancers
- 3.2. Predicting Response to Drugs
- -Pharmacogenomics
- 3.3. Factors Influencing Response to Drugs
- -Drug Metabolism
- -Drug Transporters
- -Genetic Pol ymorphism of Drug Targets
- -Genetic Variants with Indirect Effects on Drug Response
- 3.4. Diagnose and Monitor Diseases
- -Variation in Gene Expression
- -Cancer Classification, Diagnosis, and Prognosis
- --Cancer Genome Anatomy Project
- 3.5. Detecting Response to the Environment
- -Toxicogenomics
- --National Center for Toxicogenomics
- -Combating Bioterrorism
- -Infectious Disease Susceptibility
- 3.6. Identifying Individuals: Paternity and Forensics Testing
- -Paternity Testing
- -Forensics
- -Identifying Remains
-
Chapter 4. Genomic Technologies for the Clinic
- 4.1. DNA Variation: Detection and Genotyping
- -Single Nucleotide Polymorphisms (SNPs)
- -Haplotype Map
- --HapMap Project
- -SNP Genotyping Methods
- -Evaluating SNP Technologies for Clinical Applications
- -Popular SNP Genotyping Technologies
- --Selected Companies Providing SNP Technology, Services, or Reagents
- -Techniques for Identity Testing
- 4.2. Gene Expression Detection
- -Measuring Gene Expression
- -DNA Microarrays
- -Computational Issues
- --Microarray Gene Expression Data (MGED) Society
- -Laser Capture Microdissection
- -Evaluating the Technologies
- 4.3. Other Technologies
- -Molecular Imaging
- -Gene Therapy
- -Proteomics
- Commentary by David Craford, Affymetrix
-
Chapter 5. Current Applications of Clinical Genomics
- 5.1. Overview
- -Preclinical Applications
- 5.2. Applications in Clinical Trials
- -Early Phase Applications
- -Banking Blood
- Commentary by Todd R. Golub, Dana-Farber Cancer Institute
- 5.3. Applications of Gene Expression Analysis
- -Oncology Clinical Trials
- -Breast Cancer Gene Expression Analysis
- -Future Clinical Medicine Applications of Gene Expression Assays
- -Technical Limitations
- -Preclinical Studies
- 5.4. Applications in Toxicogenomics
- -Toxicogenomic Application Example #1: TPMT
- -Toxicogenomic Application Example #2: CYP450s
- -Future Prospects for Toxicogenomic Applications
- 5.5. App lications in Cancer
- -Cancer Application Example #1: Her-2 and Herceptin
- -Cancer Application Example #2: BRCA1 and BRCA2 Genes
- 5.6. Applications in Infectious Diseases
- -Infectious Disease Application Example: HIV Resistance Testing
- -Other HIV Applications
- 5.7. Applications in Cardiovascular Disease
- -Cadiovascular Disease Application Example: Factor V Leiden
- 5.8. Other Applications
- -Genomic Profiling
- -Newborn Screening
- -Prenatal Testing
- -Identity Testing
- -Paternity Testing
- -Forensics Testing
Chapter 6. Business and Strategic Issues
- 6.1. Overview
- 6.2. Key Factors Driving Adoption
- -Patients and Patient Groups
- -Ma naged Care Providers
- -Pharmaceutical Industry
- -Government and Regulatory Authorities
- -Improved Technologies
- -Legal System
- -Proof Applications
- 6.3. Cost Evaluation of Clinical Genomics
- -Measuring Costs
- -Factors Influencing Costs
- -Comparing Costs to Other Treatment Options
- -Cost-Benefit and Cost-Effectiveness Analysis
- -Specific Evaluations
- 6.4. Regulatory Environment
- -FDA Draft Guidelines on Pharmacogenomics
- -"Home-Brew” Testing
- 6.5. Clinical Genomics Diagnostics Market
- 6.6. Market Outlook
- -Toxicogenomics
- -Oncology
- -Infectious Disease
- -Inherited Disease
- -Identity Screening
- 6.7. Business Opportunities
- Commentary by David Wang, First Genetic Trust
-
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Appendix. Selected Clinical Genomics Companies
- Abbott Diagnostics
- ACLARA BioSciences
- Agendia
- Arcturus
- Ardais
- deCODE genetics
- diaDexus
- EXACT Sciences
- ExonHit Therapeutics
- First Genetic Trust
- Genaissance Pharmaceuticals
- Gene Logic
- Genomic Health
- Genomics Collaborative
- Gentris Corporation
- Iconix Pharmaceuticals, Inc.
- Interleukin Genetics
- LabCorp
- Moltox (Molecular Toxicology Inc.)
- Myriad Genetics, Inc.
- ParAllele BioScience
- Perlegen Sciences, Inc.
- PointOne
- Roche Molecular Diagnostics
- SEQUENOM
- Spectral Genomics, Inc.
- SurroMed
Glossary
Index
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