Pharmacogenetic Testing

1 PHARMACOGENETIC TESTING Pharmacogenetic Testing Wendell W. Weber University of Michigan, Ann Arbor, USA 5 Maureen T. Cronin ACLARA Biosciences, Mountain View, USA 1 Introduction 1.1 Historical Highlights 1.2 The Emergence of Pharmacogenetics 1.3 The Scope of Pharmacogenetics 1.4 The Pharmacological Profile of Human Drug Response 1.5 The Genetic Profile of Human Drug Response 1.6 The Rationale and Aims of Pharmacogenetics 1.7 Testing Pharmacogenetic Hypotheses 1.8 Summary 2 The 2.1 2.2 2.3 Changing Scene Human Protein Diversity Some Biochemical Generalizations DNA Polymorphism: Some Practical Matters 2.4 Molecular Heterogeneity of Pharmacogenetic Interest 2.5 The Effect of Mutations on the Gene Product 2.6 Summary 3 Genetic Profiling Using DNA Microarrays 3.1 The Origin of DNA Microarrays 3.2 DNA Microarray Capabilities and Limitations 3.3 Predictive Testing with DNA Microarray Assays 3.4 Emerging Applications of Microarray Technologies 3.5 The Future of Microarrays and Allied Technology 3.6 Summary 4 The Outlook for Genomics in Predictive Medicine 4.1 Options for Treating Genetic Disorders 4.2 Many Pharmacogenetic Polymorphisms are Exceptions to Experience with Single Gene Disorders 4.3 Emerging Applications of Pharmacogenetic Interest 4.4 Linking Human Genotyping to Clinical Applications 4.5 Summary 20 20 Summary: Progress in Pharmacogenetic Testing 20 19 Abbreviations and Acronyms 21 Related Articles References 21 21 2 2 3 3 4 5 5 6 6 7 7 7 7 8 10 11 11 11 13 15 16 17 18 18 18 18 Drugs are administered to patients with the intention of achieving a planned therapeutic response. Yet drug prescription is a medical art because o