Principles of Pharmacogenetics and Pharmacogenomics 1st Edition by Russ B. Altman, David Flockhart, David B. Goldstein – Ebook PDF Instant Download/Delivery: 052188537X, 9780521885379
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ISBN 10: 052188537X
ISBN 13: 9780521885379
Author: Russ B. Altman, David Flockhart, David B. Goldstein
The study of pharmacogenetics and pharmacogenomics focuses on how our genes and complex gene systems influence our response to drugs. Recent progress in the science of clinical therapeutics has led to the discovery of new biomarkers that make it technically easier to identify groups of patients which are more or less likely to respond to individual therapies. The aim is to improve personalised medicine – not simply to prescribe the right medicine, but to deliver the right drug at the right dose at the right time. This textbook brings together contributions from leading experts to discuss the latest information on how human genetics impacts drug response phenotypes. It presents not only the basic principles of pharmacogenetics, but also clinically valuable examples that cover a broad range of specialties and therapeutic areas. The first section of the book outlines critical concepts in pharmacogenetics and pharmacogenomics, including genetic testing, genotyping technologies, and adverse drug effects. The next section discusses the legal, ethical, and social implications of pharmacogenomics. The second half of the book details many of the main therapeutic areas, including oncologic drugs, cardiovascular drugs, statins, drug-induced long QT syndrome, diabetes drugs, respiratory drugs, gastrointestinal drugs, rheumatoid arthritis drugs, obstetric drugs, psychiatric drugs, pain and anesthesia drugs, HIV and antiretroviral drugs, pediatrics, and fetal and neonatal medicine. This textbook is an invaluable introduction to pharmacogenetics and pharmacogenomics for health care professionals, medical students, pharmacy students, graduate students and researchers in the biosciences.
Principles of Pharmacogenetics and Pharmacogenomics 1st Table of contents:
PART I: Critical Concepts
1: Introduction to Population Diversity and Genetic Testing
OVERVIEW OF HOW GENETIC DIVERSITY ARISES
ROLE OF THE HapMap PROJECT
OVERVIEW OF ASSOCIATION STUDY DESIGN AND CONSIDERATIONS
LINKAGE DISEQUILIBRIUM STRUCTURE IN POPULATIONS OF DIVERSE GEOGRAPHICAL ORIGIN
POPULATION STRATIFICATION ISSUES IN STUDY DESIGN
POPULATION STRATIFICATION ISSUES RESULTING FROM EXTRAPOLATING RESULTS FROM ONE POPULATION TO ANOTHER
COMMON VARIANTS VERSUS RARE VARIANTS
POSITIVE SELECTION AND DISEASE INCIDENCE
GENETIC DIVERSITY AND PERSONALIZED MEDICINE
REFERENCES
2: Genotyping Technologies
LOW THROUGHPUT
PCR-RFLP
Allele-Specific PCR
MEDIUM THROUGHPUT
Taqman® (Applied Biosystems)
Infiniti™ (Autogenomics)
Tag-It™ Mutation Detection (Luminex Molecular Diagnostics)
Pyrosequencing® (QIAGEN)
Invader® Assay (Hologic, formerly Third Wave Technologies)
HIGH THROUGHPUT
iPLEX® (Sequenom)
SUPER-HIGH THROUGHPUT
BeadArray™ System (Illumina)
Genome-Wide Human SNP Array 6.0 (Affymetrix)
MASSIVELY PARALLEL SEQUENCING
454 Sequencing™ Technology (Roche)
SOLiD™ (Applied Biosystems)
Genome Analyzer (Illumina, formerly Solexa)
Second- and Third-Generation Sequencing Technologies
CONCLUSIONS
DISCUSSION QUESTIONS
ACKNOWLEDGMENTS
REFERENCES
3: Pharmacokinetics: Absorption, Distribution, Metabolism, Excretion Overview Chapter
VARIABILITY IN DRUG RESPONSE AND PHARMACOKINETICS
ABSORPTION
DISTRIBUTION
ELIMINATION
CLEARANCE
HALF-LIFE
CLEARANCE, HALF-LIFE, AND DOSING REGIMENS
SUMMARY
REFERENCES
4: Overview: Adverse Drug Reactions
IMPACT OF ADVERSE DRUG REACTIONS
GENETICS OF ADVERSE DRUG REACTIONS
FINDING GENETIC RISK FACTORS
CONDUCTING GENETIC STUDIES
CLINICAL APPLICATION
REFERENCES
5: PharmGKB, a Centralized Resource for Pharmacogenomic Knowledge and Discovery
PharmGKB HOME PAGE AND BASIC QUERY
KNOWLEDGE DOMAIN: SIGNIFICANT PHARMACOGENES/VARIANTS, DRUG PATHWAYS, AND GENE-DRUG-DISEASE RELATIONS
Significant Pharmacogenes/Variants
Drug Pathways
Gene-Drug-Disease Relationships
PRIMARY DATA DOMAIN
CLINICAL PHARMACOGENOMICS (PGx)
DISEASE CASE STUDY: HOW TO FIND IMPORTANT PHARMACOGENOMIC INFORMATION ASSOCIATED WITH A DISEASE AND
Searching for Specific Information on the PharmGKB
KNOWLEDGE-GUIDED STUDY DESIGN AND DATA ANALYSIS USING PharmGKB (ADVERSE DRUG REACTIONS ASSOCIATED WI
CONCLUSION
ACKNOWLEDGMENTS
REFERENCES
6: DrugBank
ELECTRONIC DATABASES IN THE LIFE SCIENCES
DrugBank SYNOPSIS
AN ILLUSTRATED TOUR OF DrugBank
DrugBank AND PHARMACOGENOMICS
CONCLUSIONS
PROBLEMS
REFERENCES
7: Ethical Considerations for Pharmacogenomics: Privacy and Confidentiality
GENETIC EXCEPTIONALISM
REGULATORY PROTECTION OF GENETIC INFORMATION PRIVACY AND CONFIDENTIALITY
BIOBANKING AND SCALING UP
DATA SHARING AND THE RISK TO PRIVACY
STRATEGIES FOR PROTECTING PRIVACY
RESPONSIBILITIES FOR SECONDARY INFORMATION
GOOD GOVERNANCE AND PRIVACY PROTECTION
DISCUSSION QUESTIONS
ENDNOTES
8: Informed Consent in Pharmacogenomic Research and Treatment
INFORMED CONSENT IN RESEARCH
General Principles
Pharmacogenomic Research
Biobanks
Clinical Research
Group Harms
INFORMED CONSENT TO TREATMENT
General Principles
Pharmacogenomics-Based Therapies
Social and Economic Harms
CONCLUSION
DISCUSSION QUESTIONS
REFERENCES
9: Legal Trends Driving the Clinical Translation of Pharmacogenomics
REGULATION IN THE ERA BEFORE PHARMACOGENOMICS
THE CHALLENGE OF EVIDENCE DEVELOPMENT
Timing of Research
Determining the “Best” Methodology for Postmarket Studies
COMMUNICATING AND APPLYING THE EVIDENCE
Communicating the Evidence
Promoting Compliance with Evidence
ENDNOTES
PART II: Therapeutic Areas
10: Oncologic Drugs
PHARMACOGENOMIC DISCOVERY IN ONCOLOGY
Germline Polymorphisms and Somatic Mutations
Phenotypes in Pharmacogenomic Studies of Chemotherapeutic Agents
Clinical Phenotypes
Preclinical Cellular Phenotypes
Approaches in Chemotherapy Pharmacogenomic Research
Candidate Gene Approach in Oncology
Genome-Wide Association Studies in Oncology
Cell-Based Models in Chemotherapy Pharmacogenomic Discovery
LCL Model
NCI60 Cell Lines
PHARMACOGENOMICS OF IMPORTANCE IN ONCOLOGY
Germline Polymorphisms
CYP2D6 Genotype and Tamoxifen
UGT1A1 and Irinotecan Therapy
Dihydropyrimidine Dehydrogenase (DPYD) and Thymidylate Synthetase (TS) Polymorphisms and 5-FU Therap
TPMT and Purine Analogs
PHARMACOGENOMICS AND PHARMACOETHNICITY
CASE PRESENTATIONS
Case 1: CYP2D6 Genotype and Response to Tamoxifen Therapy
Case 2: UGT1A1 Genotype and Irinotecan Toxicity
SUMMARY POINTS
REFERENCES
11: Pharmacogenetics and Pharmacogenomics of Cardiovascular Disease
SCOPE OF CARDIOVASCULAR THERAPEUTICS
Cardiovascular Disease Therapeutics and Genetic Variation
Approach to Pharmacogenetics and Cardiovascular Drugs
HYPERTENSION
Disease Burden and Pharmacotherapy
Pharmacogenetics of Antihypertensive Therapy
β-Blockers
Diuretics
The Renin-Angiotensin-Aldosterone System
Calcium Channel Blockers
HEART FAILURE
ACE-I and ARBs
β-Blockers
LIPID-LOWERING DRUGS
Statins
Pharmacokinetic Candidate Genes
Pharmacodynamic Candidate Genes
ANTIPLATELET DRUGS AND ORAL ANTICOAGULANTS
Clopidogrel
Aspirin
Warfarin
CONCLUSION
REFERENCES
12: Statin-Induced Muscle Toxicity
INTRODUCTION
Clinical Background
Rhabdomyolysis
Intermediate Myotoxicity
Dose Dependence
Factors Having an Impact on Drug Disposition
Anticipated Challenges
Mechanisms of Toxicity
Cholesterol Biosynthesis
Mitochondrial Dysfunction
Cell Cycling
Apoptosis
Nuclear Abnormalities
Genetic Predictors
Whole Genome Scanning
Outlook
REFERENCES
13: Genomics of the Drug-Induced Long-QT Syndrome
A HISTORY OF TORSADES DE POINTES
GENETICS OF QT CONTROL
THE DRUG-INDUCED LONG-QT SYNDROME
CLINICAL FEATURES OF DRUG-INDUCED TdP
CHALLENGES IN EXECUTING STUDIES OF diLQTS GENETICS
Case Ascertainment and Definition
Identifying Controls
Identifying Candidate Genes
A Systems View of Cardiac Repolarization – the Concept of “Repolarization Reserve”
THE GENETICS AND GENOMICS OF diLQTS
SUMMARY AND FUTURE DIRECTIONS
REFERENCES
14: Pharmacogenetics of Diabetes
INTRODUCTION
Health Impact
Etiology of Diabetes, Insulin Resistance, and Insulin Signaling
OVERVIEW OF TREATMENT OPTIONS
Goals of Treatment
Insulin Secretagogues: Sulfonylureas and Meglitinides
Glucagon-Like Peptide 1-Based Therapy
Insulin Sensitizers: Metformin and Thiazolidinediones
Insulin
GENETIC INFLUENCE ON EFFECTIVENESS OF BLOOD GLUCOSE-LOWERING MEDICATION
Candidate Genes on Pharmacokinetics
Sulfonylureas and CYP2C9 Polymorphisms
Meglitinides and CYP2C9, CYP2C8, CYP3A5, SLCO1B1, and CYP2D6
Thiazolidinediones, CYP Enzymes, and SLO1B1
Biguanides and OCT Polymorphisms
Candidate Genes Related to Pharmacodynamics
Sulfonylureas and SUR1 and Kir6.2 Polymorphisms
Meglitinides and Polymorphisms
Sulfonylureas and Biguanides and Insulin Receptor Substrate Polymorphisms
Sulfonylureas and Biguanides and KCNJ11 Polymorphisms
Sulfonylureas and Biguanides and Transcription Factor-7-Like 2 Polymorphisms
Thiazolidiones, Acarbose, and PPARγ Polymorphisms
Thiazolidiones, Acarbose, and Adiponectin Polymorphisms
Incretin Mimetics/DPP-4 Inhibitors
Candidate Genes in the Causal Pathway
CONCLUSION
REFERENCES
15: Pharmacogenetics – Therapeutic Area – Respiratory
INTRODUCTION: THE BURDEN OF RESPIRATORY DISEASE
Pharmacogenetic Categories
Pulmonary Pharmacogenetic Phenotypes
Summary
THE PHARMACOGENETICS OF ASTHMA
Asthma Pharmacogenetic Phenotypes
The Pharmacogenetics of Asthma – Overview of Studies to Date
The β2-Adrenergic Receptor Pathway
The Leukotriene Antagonist Pathway
The Corticosteroid Pathway
Asthma Pharmacogenetics – The Future
THE PHARMACOGENETICS OF COPD
Potential COPD Pharmacogenetic Phenotypes
The Pharmacogenetics of Smoking Cessation
Pharmacokinetic Paradigm
Pharmacodynamic Paradigm
The Future of COPD Pharmacogenetics
CONCLUSION
DISCUSSION QUESTIONS
REFERENCES
16: Pharmacogenomics Associated with Therapy for Acid-Related Disorders
EFFECTS OF CYP2C19 POLYMORPHISM ON THE PKs AND PDs OF PPIs
Genetic Differences in the PPI-Metabolizing Enzyme, CYP2C19
Effect of CYP2C19 Polymorphism on the PKs of PPIs
Effect of CYP2C19 Polymorphism on Gastric Acid Inhibition with PPIs
Intragastric pH on Frequent PPI Dosing
Influence of CYP2C19 Genotype Status on the PKs and PDs of Different PPIs
EFFECT OF CYP2C19 POLYMORPHISM ON GERD TREATMENT BY PPI
EFFECT OF CYP2C19 POLYMORPHISM ON PEPTIC ULCER HEALING WITH A PPI
EFFECTS OF CYP2C19 POLYMORPHISM ON PPI-BASED ERADICATION THERAPY OF H. pylori
CYP2C19 Genotype Status as the Therapeutic Determinant of PPI-Based Eradication Therapy for H. pylor
Pharmacogenomics-Based Rescue Regimens after Eradication Failure with Standard PPI/Amoxicillin/Clari
Tailored Strategy for H. pylori Infection Based on CYP2C19 Genotype and H. pylori 23S rRNA
PHARMACOGENOMIC RISK FACTORS FOR NSAID/ASPIRIN ULCER
CONCLUSION
REFERENCES
17: Pharmacogenetics of Rheumatology: Focus on Rheumatoid Arthritis
TREATMENT PARADIGMS
Candidate Genes in Pharmacogenetic Studies
Challenges to Pharmacogenetics in Rheumatic Diseases
SPECIFIC PHARMACOGENETIC ASSOCIATIONS
Methotrexate
Clinical Prediction Models
TNF-α Antagonists
Criswell et al.
Marotte et al.
Padyukov et al.
Azathioprine
CONCLUSION
REFERENCES
18: Pharmacogenetics of Obstetric Therapeutics
PRETERM LABOR
Why Do We Treat Preterm Labor?
What Drugs Are Used for Preterm Labor?
Betamimetics
Calcium Channel Blockers
Magnesium Sulfate
Nonsteroidal Anti-Inflammatory Drugs
Oxytocin Antagonists
Summary
PERINATAL DEPRESSION
Why Do We Treat Depression during Pregnancy?
What Drugs Are Used to Treat Depression during Pregnancy?
SSRIs
Tricyclic Antidepressants
Atypical Antidepressants
Effects of Antidepressants in Pregnancy
DIABETES IN PREGNANCY
Why Do We Treat Diabetes in Pregnancy?
What Drugs Are Used to Treat Diabetes in Pregnancy?
Insulin
Oral Hypoglycemic Agents
SUMMARY
NAUSEA AND VOMITING OF PREGNANCY
Why Do We Treat Nausea and Vomiting of Pregnancy?
What Drugs Are Used to Treat Nausea and Vomiting of Pregnancy?
HYPERTENSION IN PREGNANCY
Why Do We Treat Hypertension in Pregnancy?
What Drugs Are Used to Treat Hypertension in Pregnancy?
β-Blockers
Central α-Blocker
Calcium Channel Blockers
Diuretics
Vasodilators
SUMMARY
REFERENCES
19: Pharmacogenomics of Psychiatric Drugs
CYTOCHROME P450 DRUG-METABOLIZING ENZYME GENES
CYP2D6
CYP2C19
CYP1A2
CYP2C9
CATECHOLAMINE-O- METHYLTRANSFERASE GENE
NEUROTRANSMITTER TRANSPORTER GENES
Norepinephrine Transporter Gene
Dopamine Transporter Gene
Serotonin Transporter Gene
SEROTONIN RECEPTOR GENES
Serotonin 1A Receptor Gene
Serotonin 2A Receptor Gene
Serotonin 2C Receptor Gene
DOPAMINE RECEPTOR GENES
Dopamine 2 Receptor Gene
Dopamine 3 Receptor Gene
Dopamine 4 Receptor Gene
ETHICAL CONSIDERATIONS
APPLICATIONS
REFERENCES
20: Pain and Anesthesia
PAIN
ANALGESIA
ANESTHESIA
Intravenous Anesthetics
Inhaled Anesthetics
Neuromuscular Blocking Drugs
Local Anesthetics
Opioids
Phase I Metabolism
Phase II Metabolism
Drug Transport
Opioid Receptors
Nonopioid Receptors
GENETIC TESTING
SUMMARY
REFERENCES
21: HIV and Antiretroviral Therapy
BASIC CONCEPTS IN HIV THERAPEUTICS
CURRENT KNOWLEDGE IN PHARMACOGENETICS OF ANTIRETROVIRAL TREATMENT
Drug Pharmacokinetics
Drug Pharmacodynamics
Transporter Genes and Antiretroviral Treatment
WHEN TO START ANTIRETROVIRAL TREATMENT
CASE STUDIES
Gene Candidate Approach
Pathway Approaches
Genome-Wide Approaches
DISCUSSION PROBLEMS
REFERENCES
22: Application of Pharmacogenetics and Pharmacogenomics in Pediatrics: What Makes Children Differen
IMPORTANT CONSIDERATIONS IN PEDIATRIC PHARMACOGENETICS AND DEVELOPMENTAL PHARMACOGENOMICS
GENERAL PARADIGM TO SYSTEMATICALLY ASSESS THE ROLE OF ONTOGENY AND GENETIC VARIATION IN PEDIATRIC DR
CASE SCENARIO (ADAPTED FROM CASES IN THE LITERATURE AND CLINICAL EXPERIENCE OF THE AUTHORS)
CASE SCENARIO (CONTINUED)
SUMMARY
REFERENCES
23: Fetal and Neonatal Pharmacogenomics
FETAL AND PLACENTAL DEVELOPMENT
FETAL PHARMACOGENOMICS
NEONATAL PHARMACOGENOMICS
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