Pharmacogenomics in Clinical Practice (Jan 5, 2024)_(3031459024)_(Springer)

• Publisher: Springer
• Year: 2024
• Tongue: English
• Leaves: 484
• Category: Library

✦ Table of Contents

Contents
Principles of Pharmacogenetics
1 Introduction
2 The Significance of Pharmacogenetics in the Context of Personalized (Precision) Medicine
3 Influence of Genetic Inter-individual Variations on Therapeutic Outcomes
4 Gene/Drug Interaction—Level of Evidence for the Development of Pharmacotherapeutic Guidelines
5 Conclusion
References
Principles of Xenobiotic Metabolism (Biotransformation)
1 Introduction
2 Oxidations
2.1 Cytochrome P450
2.2 Alcohol and Aldehyde Dehydrogenases
2.3 Peroxidases
2.4 Xanthine Oxidoreductase and Aldehyde Oxidase
2.5 Flavin-Containing Monooxygenase
2.6 Monoamine Oxidase
3 Reductions
4 Hydrolysis and Conjugations
4.1 Hydrolysis
4.2 Glucuronidation
4.3 Sulfoconjugation
4.4 Methylation
4.5 Acetylation
4.6 Conjugation with Amino Acids
4.7 Conjugation with Glutathione
5 Metabolic Reactions in Therapeutic Drug Monitoring
References
Pharmacogenomics of Drug-Metabolizing Enzymes
1 Introduction
2 Enzymes Involved in Phase I Drug Metabolism
2.1 CYP2D6
2.2 CYP2C19
2.3 CYP2C9
2.4 CYP3A4/A5
2.5 Other Isoforms of Cytochrome CYP P450 Enzyme System (CYP1A2, 2A6, 2B6, 4F2)
3 Enzymes Involved in Phase II Drug Metabolism
3.1 Thiopurine Methyltransferase—TPMT
3.2 N-acetyltransferase 2-NAT2
3.3 Glutathione S-transferase—GSTM1, GSTT1, GSTP1
3.4 UDP Glucuronyl Transferase—UGT1A1
3.5 Sulfotransferase—SULT
4 Vitamin K Epoxy Reductase—VKORC1
5 Pharmacogenetic profile of CYP2C9 and VKORC1 in anticoagulant therapy
6 Conclusion
References
Role of Membrane Transporters in Pharmacogenomics
1 Introduction
2 ABC Superfamily
2.1 ABCB1 (P-gp, from P-Glycoprotein; MDR1, from Multidrug Resistance Protein)
2.2 ABCG2 (BCRP, from the Breast Cancer Resistance Protein, also Known as MXR or MCF-7)
2.3 ABCC (MRP, from Multidrug Resistance Proteins)
2.4 CFTR (from, Cystic Fibrosis Transmembrane Conductance Regulator)
2.5 ABCC8
3 SLC Superfamily
3.1 SLCO1B1 (formerly known as Organic Anion Transporter Protein, OAT1B1)
3.2 SLC22A1
3.3 SLC6A4 (5-HTTLPR)
3.4 SLC6A3 (DAT1)
3.5 SLC19A1 (Folate Transporter)
4 Conclusion
References
Role of Drug Receptors in Pharmacogenomics
1 Introduction
2 Beta-Adrenoceptors
3 Dopamine Receptors
4 Serotonergic Receptors
5 Opioid Receptors
6 Estrogen Receptor
7 Oncopharmacogenetic Receptors
8 KRAS (From v-Ki-ras2-Kirsten Rat Sarcoma Viral Oncogene Homolog)
8.1 EGFR
8.2 BRAF
8.3 HER2/ERBB2
8.4 KIT (c-Kit, CD117, SCFR)
9 Conclusion
References
Role of Drug Targets and Other Proteins Important in Pharmacogenomics
1 Introduction
2 Enzymes that Mediate Drugs Pharmacological Effects
2.1 Vitamin K Epoxy Reductase—VKORC1
2.2 Angiotensin-Converting Enzyme
2.3 Catechol-O-Methyltransferase
2.4 Glucose-6-Phosphate Dehydrogenase
2.5 Dihydropyrimidine Dehydrogenase
2.6 Methylenetetrahydrofolate Reductase
2.7 Nucleoside Diphosphatase
2.8 Thymidylate Synthase
3 Channels that Mediate Drugs Pharmacological Effects
3.1 Calcium Channels—Ryanodine Receptors (RYR) and Dihidropyrimidine Receptors
3.2 Anion (Chloride) Channel
4 Immune Response Gene Polymorphism—Human Leukocyte Antigens (HLA)
5 Other Genes of Interest for Specific Drugs
5.1 Mitochondrially Encoded 12s rRNA—MT-RNR1
5.2 Interferon-λ 3 (IFN-λ 3)
6 Conclusion
References
Pharmacogenetic Algorithms
1 Introduction—Clinical Algorithms
2 Pharmacogenetic Guidelines
3 Differentiating Between Pharmacokinetic and Clinical Significance
4 Pharmacogenetics in Selected Disease States
4.1 Cardiovascular Diseases
4.2 Neurology and Mental Health
4.3 Oncology
4.4 Pain
4.5 Rheumatology
4.6 Anti Virals and Aminoglycosides
5 Multi-Factor Considerations
6 Conclusion
References
Pharmacogenomics in Pain Treatment
1 Introduction
2 Non-steroidal Anti-inflammatory Drugs (NSAIDs)
3 Paracetamol (Acetaminophen)
4 Opioid Analgesics
5 Adjunct Analgesics
5.1 Antidepressants
5.2 Anticonvulsants
6 Conclusion
References
Pharmacogenomics in Psychiatric Diseases
1 Introduction
2 Pharmacogenes in Psychiatry
2.1 Pharmacokinetic Genes
3 Pharmacodynamic Genes
3.1 HLA genes
3.2 SCL6A4
3.3 HTR2A, HTR1A
3.4 GRIK4
3.5 DRD2, DRD3, and DRD4
4 PGx of Psychotropic Drugs
4.1 Antidepressants
4.2 Antipsychotics
4.3 Mood Stabilizers
4.4 ADHD Medications
4.5 Benzodiazepines
5 Conclusion
References
Pharmacogenomics in Anesthesia
1 Introduction
2 Volatile (Inhalational) Anesthetics
3 Intravenous Anesthetics
4 Sedatives
5 Local Anesthetics
6 Neuromuscular Blocking Drugs
7 Opioid Analgesics
8 Conclusion
References
Pharmacogenomics in Cardiovascular Diseases
1 Introduction
2 Clopidogrel
3 Anticoagulant Drugs
3.1 Warfarin
3.2 Acenocoumarol
3.3 Direct Oral Anticoagulants
4 Antilipid Drugs
5 Other CV Drugs
5.1 Antiarrhythmics
5.2 Beta-Blockers
6 Conclusion
References
Pharmacogenomics in Gastroenterology
1 Introduction
2 Proton Pump Inhibitors
3 Antiemetic Drugs
4 Drugs Used for Inflammatory Bowel Diseases
4.1 5-Aminosalicylic Acid and Derivatives
4.2 Corticosteroids
4.3 Thiopurines
4.4 Methotrexate
4.5 Biologicals
5 Conclusion
References
Pharmacogenomics in Cancer Therapeutics
1 Introduction
2 Capecitabine/5-FU and DPYD
3 Irinotecan and UGT1A1
4 Tamoxifen and CYP2D6
5 CPIC Guidelines
6 Conclusion
References
Pharmacogenomics on Immunosuppressive Drugs in Solid Organ Transplantation
1 Introduction
2 Pharmacokinetics of Tacrolimus
3 Pharmacogenetics of CYP3A5
4 CYP3A422, ABCB1 3435C >T and POR28
5 Mycophenolic acid and UGT1A9
6 CPIC Guidelines
7 Conclusion
References
The Application of Pharmacogenomics to Infectious Disease
1 Introduction
2 HLA-B and Abacavir
3 UGT1A1 and Atazanavir
4 CYP2B6 and Efavirenz
5 MT-RNR1 and Aminoglycosides
6 CYP2C9 and Voriconazole
7 IFNL3/IFNL4 and Pegylated Interferon Alpha-Based Regimens
8 Conclusion
References
Pharmacogenomics in Primary Care
1 Introduction
1.1 Why PGx is Valuable in Primary Care
1.2 How Does PGx Work?
1.3 Benefits and Limitations of PGx
2 When and Who to Test
2.1 Pre-Emptive Versus Reactive
2.2 Behavioral/Mental Health Case Example
2.3 Pain Case Study
3 Comprehensive Medication Management and Complex PGx Cases
3.1 Comprehensive Medication Management and PGx
3.2 Polypharmacy PGx Case Study
3.3 Oncology/Supportive Care Case Study
4 PGx Considerations, Education, and Resources
4.1 Lab Considerations
4.2 Pharmacogenomics Education and Resources
4.3 Patient Education
5 Final Discussion on PGx Adoption in Primary Care
References
Pharmacogenomics and Big Data
1 Introduction
2 Big Data in Biomedicine
3 Emerging Role of Artificial Intelligence
4 Implementing Pharmacogenomics in Clinical Practice
References
Public Health Issues in Pharmacogenomics
1 Introduction
2 The Rise of Precision Public Health in the Pharmacogenomics Era
3 The COVID-19 Pandemic and the Rebirth of Public Health: The Pivotal Role of Genomics
4 Increase the Efficacy of Public Health Interventions Using Pharmacogenomics in Primary, Secondary, Tertiary Non-communicable Diseases Prevention
4.1 Improving Cardiovascular Disease Prevention with Pharmacogenomics
4.2 Familial Hypercholesterolemia: A Model for the Primary Prevention of CVDs
5 Cancer, Pharmacogenomics, and the Public Health Impact
6 Opportunities for Preemptive Pharmacogenomic Testing in Clinical Practice
7 Future Perspectives for Pharmacogenomics and Public Health: Personalized Prevention
References
Ethical Issues in Pharmacogenomics
1 Introduction
2 Key Ethical Concepts in Pharmacogenomics
2.1 Justice and Equity
2.2 Autonomy and Informed Consent
2.3 Nonmaleficence and Beneficence and Utilitarianism
2.4 Privacy and Confidentiality
3 Ethical Issues Raised by Pharmacogenomics
3.1 Ownership Issues
3.2 Access Issues
3.3 Use Issues
4 Pharmacogenomics Practice Guidelines
4.1 Federal Regulators (US)
4.2 Professional Groups
References
Economic Evaluation of Pharmacogenomic Testing
1 Introduction
2 Documented Evidence
3 Implementation
3.1 Test Send Out (TSO) Model
3.2 In-House Technology Transfer Model
4 Can PGx Screening Be Cost-Effective?
5 PGx Financial Modeling
References
Role of Public Data Bases for Pharmacogenomics
1 Introduction
2 Regulatory Databases
3 Pharmacogenomics Specific Databases
3.1 The Clinical Pharmacogenetics Implementation Consortium
3.2 Dutch Pharmacogenetics Working Group
3.3 Canadian Pharmacogenomics Network for Drug Safety
3.4 French National Network (Réseau) of Pharmacogenetics
3.5 Swiss Group of Pharmacogenomics and Personalized Therapy
4 Referential Databases
4.1 National Institutes of Health
4.2 Pharmacogenomics Knowledge Base
4.3 Wolters Kluwer
5 Conclusion
References
Pharmacogenomics Education
1 Introduction
2 History and Importance of Pharmacogenomic Education
3 Current Pharmacogenomic Education at University
4 Current Status of Pharmacogenomics Implementation in Clinical Practice
References
Pharmacogenomics of Drug Safety
1 Introduction
2 Drugs and Biomarkers Related to Pharmacokinetics and/or Pharmacodynamics
2.1 Atazanavir
2.2 Atomoxetine
2.3 Clopidogrel
2.4 Efavirenz
2.5 Fluoropyrimidines
2.6 Non-steroidal Anti-inflammatory drugs
2.7 Ondansetron and Tropisetron
2.8 Opioid Analgetics
2.9 Phenytoin
2.10 Selective Serotonin Reuptake Inhibitors
2.11 Simvastatin
2.12 Tricyclic Antidepressants
2.13 Voriconazole
2.14 Warfarin
3 Drugs and Genomic Biomarkers Associated with Drug-Induced Toxicity Risk Status
3.1 Abacavir
3.2 Allopurinol
3.3 Aminoglycoside
3.4 Carbamazepine and Oxcarbazepine
3.5 Halogenated Volatile Anesthetics and Depolarizing Muscle Relaxants
3.6 Rasburicase
3.7 Ribavirin and Pegylated Interferon-α
4 Conclusion
References
Pharmacogenomics in Drug Research and Development
1 History of Drug Discovery and Development
2 A New Approach to Drug Development Versus Conventional Approach
2.1 Changing Paradigm in Drug Development—Astra Zeneca Case
3 Impact of New Technologies on the Drug Discovery and Development
3.1 Genomics
3.2 Transcriptomics
3.3 Proteomics
3.4 Metabolomics
4 Artificial Intelligence in Drug Discovery and Development
4.1 Machine Learning
4.2 Deep Learning
5 Biomarkers in Drug Discovery and Development
5.1 Types of Biomarkers
6 Pharmacogenomics—the Central Place of Personalized Medicine
6.1 History of Pharmacogenomics
6.2 Pharmacogenomics in Drug Discovery
6.3 Pharmacogenomics in Early Clinical Development
6.4 PGx-Dose Recommendations, Guidelines, and Drug Labeling
6.5 Companion Diagnostic
References
Future Perspectives of Pharmacogenomics
1 Pharmacogenomics and Precision Medicine
2 Increasing Complexity in Pharmacogenomics
3 Advancement of Technology in Pharmacogenomics
3.1 Application of SNV Arrays in Pharmacogenomics
3.2 State of the Art: Next-Generation Sequencing
3.3 Advantage to Use NGS in Pharmacogenomics
4 Long-Read Sequencing—Opportunity for Future Pharmacogenomics
5 Modern Approaches to Data Analysis in Pharmacogenomics
5.1 Evaluation of Known SNVs in Known Genes
5.2 Variants with Unknown Effect
5.3 Pharmacogenomics and Disease Genes
6 Continuing Education and Guidelines for Primary Care
6.1 Guidelines
6.2 Recommendations from FDA
References
Appendix
Overview of Pharmacogenes with Significance to Clinical Practice
Index