Genetics of chronic pain: crucial concepts in genetics and research tools to understand the molecular biology of pain and analgesia
Peter R Wilson, Paul J Watson, Jennifer A Haythornthwaite, Troels S Jensen in Clinical Pain Management, 2008
Drug response is a complex trait that is governed by many processes and is multifactorial. The study of the genes that influence drug response is termed pharmacogenetics. The study of the entire complement of genes that influence drug response in an individual is termed pharmacogenomics. Though drug discovery progressively incorporates knowledge of the genetic factors that influence their metabolism, genetic tests that can predict an individual’s response to a specific drug remain limited. Improvements in both the assessment of gene variations (e.g. microarray methods) and in an understanding of the genes and metabolic pathways that dictate the pharmacokinetics and the pharmacodynamics of drugs are contributing greatly to the development of genetic tests that may predict an individual’s response to a drug (e.g. positive, negative). Examples of the pharmacogenetic discoveries in pain and analgesia are listed in Table 4.3.
Pharmacogenetics of Mood Disorders: Is there a Future?
Siegfried Kasper, Johan A. den Boer, J. M. Ad Sitsen in Handbook of Depression and Anxiety, 2003
Pharmacogenetics is the study of genetically determined, interindividual differences in therapeutic response to drugs and susceptibility to adverse effects. The principal objective of pharmacogenetics is to identify and categorize the genetic factors that underlie these differences and to apply these observations in the clinic. Pharmacogenetics addresses a core issue in pharmacotherapeutics, the individualization of drug treatment to the specific patient, and promises to provide the tools for making rational clinical decisions that are based on the patient’s genetic profile. This will be a major advance in therapeutics that will have enormous impact on patient care and also important pharmacoeconomic implications. Furthermore, the complex and lengthy process of new drug development could be considerably shortened. While there is certainly a future for the pharmacogenetics of mood disorders, translating the promise into reality is likely to take substantially longer than anticipated. It will require considerable investment of resources in the design and execution of appropriate clinical studies as well as the development of novel and considerably more efficient approaches to data analysis.
The Precision Medicine Approach in Oncology
David E. Thurston, Ilona Pysz in Chemistry and Pharmacology of Anticancer Drugs, 2021
Pharmacogenomics is the study of the influence of genetic variation on drug response by attempting to correlate single-nucleotide polymorphisms (SNPs) or gene expression with an agent’s efficacy or toxicity. The aim is to develop a rational approach to optimize drug therapy for individual patients by maximizing efficacy and minimizing side effects. The terms pharmacogenomics and pharmacogenetics are often used interchangeably and attempts to agree precise definitions have failed. However, pharmacogenetics is usually regarded as the study or clinical testing of genetic variation that gives rise to differing responses to drugs, while pharmacogenomics is the broader, whole genome, application of genomic technologies to new drug discovery and the further characterization of older drugs. In other words, pharmacogenomics is the application of pharmacogenetics, which examines single-gene interactions with drugs.
Compounding for women’s health: a compounder’s perspective – need, regulations, and future
Published in Climacteric, 2021
In the emerging field of pharmacogenomics, one strength does not fit all. Pharmacogenomics is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology and genomics to develop effective, safe medications and doses that will be tailored to a person’s genetic make-up. An area of research includes breast cancer susceptibility using pharmacogenomic predictors, genes that are involved in the metabolism of sex hormones which underscore the potential cancer risk in menopausal patients receiving HRT, thus leading to genotype-guided safer HRT use66. In addition, pharmacogenetics in pregnancy has potential application in several areas of obstetric therapeutics including opioid pain management, antihypertensive therapy, antidepressant medications, pre-term labor tocolytics, antenatal corticosteroids, and anti-emetics67.
Role of genetic testing in patients undergoing percutaneous coronary intervention
Published in Expert Review of Clinical Pharmacology, 2018
Jae Youn Moon, Francesco Franchi, Fabiana Rollini, Jose R. Rivas Rios, Megha Kureti, Larisa H. Cavallari, Dominick J. Angiolillo
The study of genetic polymorphisms has received a lot of attention over the past years in the field of cardiovascular disease. In particular, pharmacogenetics is the study of how genetic differences influence the variability in patients’ responses to drug [37]. Specific polymorphisms in genes which encode proteins or molecules associated with drug absorption, metabolism, transport, or eliciting therapeutic effects may potentially affect an individual’s response to the drug and thus explain drug effectiveness and safety profiles for the individual [38]. Therefore, the ultimate goal of a pharmacogenetic study is to identify specific genetic polymorphism(s) that are able to explain the variability in individual patient response to a given drug [37]. Identification of patients with specific genetic polymorphisms may be clinically important as these subjects may benefit from alternative therapies. This approach is the foundation for the concept of personalized treatment strategies. The ever-growing knowledge in the field of pharmacogenetics has indeed contributed the development of personalized medicine programs [39].
Monitoring for antidepressant-associated adverse events in the treatment of patients with major depressive disorder: An international consensus statement
Published in The World Journal of Biological Psychiatry, 2018
Seetal Dodd, Philip B. Mitchell, Michael Bauer, Lakshmi Yatham, Allan H. Young, Sidney H. Kennedy, Lana Williams, Trisha Suppes, Carlos Lopez Jaramillo, Madhukar H. Trivedi, Maurizio Fava, A. John Rush, Roger S. McIntyre, Michael E. Thase, Raymond W. Lam, Emanuel Severus, Siegfried Kasper, Michael Berk
Pharmacogenetic testing: This is available for a large and growing list of genes associated with pharmacokinetic and pharmacodynamic variations (Singh and Bousman 2017). Testing for gene variants in CYP2D6 and CYP2C19 enzymes to determine metaboliser status are the most evidence-based pharmacogenetics tests relevant to antidepressant treatment (Muller et al. 2013). There is some evidence to suggest potential usefulness of such testing in some select cases (Brennan et al. 2015), though not sufficient to justify widespread clinical use. The International Society for Psychiatric Genetics does not recommended genetic testing for patients using antidepressants (International Society of Psychiatric Genetics 2016). Further evidence is required to clarify if these tools are clinically useful and cost effective (Bousman and Hopwood 2016).
Related Knowledge Centers
- Copy Number Variation
- Genome
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- Single-Nucleotide Polymorphism