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Nordic Journal of Psychiatry Sep 2018Ethnopharmacology relates to the study of substances used medicinally by different ethnic or cultural groups or handling of, drugs-based ethnicity or pharmacogenetics. (Review)
Review
BACKGROUND
Ethnopharmacology relates to the study of substances used medicinally by different ethnic or cultural groups or handling of, drugs-based ethnicity or pharmacogenetics.
AIMS
To review the key aspects of ethnopharmacology.
METHOD
This lecture gives an overview of the relationship between geography, culture, pharmacogenomics and prescribing.
RESULTS
Although the majority of antipsychotics, antidepressants and mood-stabilisers are widely and cheaply available in generic forms, prescription rates can vary. Clozapine is one such example with prescribing-rates ranging from less than 10 patients per 100,000 people to nearly 180 patients/100,000 people. Pharmacogenetic studies of antipsychotics and antidepressants concern gene polymorphisms that may affect both, pharmacodynamic or pharmacokinetic properties. Considerable genetic and ethnic variability has been seen for the P450 microsomal enzymes CYP 2D6 and 1A2.
CONCLUSIONS
With accelerated global mobility and increased understanding of medicinal substances at molecular level, understanding of ethnopharmacology will become increasingly important in routine clinical practice.
Topics: Ethnopharmacology; Humans; Pharmacogenetics; Polymorphism, Genetic
PubMed: 30688173
DOI: 10.1080/08039488.2018.1525636 -
Handbook of Clinical Neurology 2018Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact... (Review)
Review
Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact the pharmacokinetic and pharmacodynamic aspects of medications used to treat neurologic and psychiatric disorders. This chapter reviews the current state of pharmacogenetic aspects of these treatments. Medications with supporting pharmacogenetic information in product labeling, clinical guidelines, or important mechanistic implications are discussed. At this time, clinically relevant genetic variation in drug metabolizing enzymes may inform drug dosing for a number of medications metabolized in the liver. Additionally, genetic variation in immunological genes may be tested to assess risk for severe hypersensitivity reactions to some anticonvulsant drugs. Finally, a growing body of research highlights that genetic polymorphisms in drug targets may influence symptom response or tolerability to some treatments.
Topics: Humans; Mental Disorders; Nervous System Diseases; Pharmacogenetics
PubMed: 29325628
DOI: 10.1016/B978-0-444-63233-3.00006-3 -
Drug and Therapeutics Bulletin Nov 2023There is considerable interindividual variability in the effectiveness and safety of medicines. Although the reasons for this are multifactorial, it is well recognised... (Review)
Review
There is considerable interindividual variability in the effectiveness and safety of medicines. Although the reasons for this are multifactorial, it is well recognised that genetic changes impacting the absorption or metabolism of these drugs play a significant contributory role. Understanding how these pharmacogenetic variants impact response to medicines, and leveraging this knowledge to guide prescribing, could have significant benefits for patients and health services. This article provides an introduction to the field of pharmacogenetics, including its nomenclature, the existing evidence base and the current state of implementation globally. We discuss the challenges in translating pharmacogenetic research into clinical practice and highlight the considerable benefits which can emerge in those health services where implementation is successful.
Topics: Humans; Pharmacogenetics
PubMed: 37788890
DOI: 10.1136/dtb.2023.000009 -
Genetics in Medicine : Official Journal... Feb 2017Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical...
INTRODUCTION
Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes.
MATERIALS AND METHODS
Terms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts.
RESULTS
Experts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms.
DISCUSSION
The proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support.Genet Med 19 2, 215-223.
Topics: Alleles; Electronic Health Records; Genetic Testing; Humans; Pharmacogenetics; Phenotype; Surveys and Questionnaires; Terminology as Topic
PubMed: 27441996
DOI: 10.1038/gim.2016.87 -
Drug Metabolism and Personalized Therapy Mar 2016In the last decade, pharmacogenetic research has been performed in different fields. However, the application of pharmacogenetic findings to clinical practice has not... (Review)
Review
In the last decade, pharmacogenetic research has been performed in different fields. However, the application of pharmacogenetic findings to clinical practice has not been as fast as desirable. The current situation of clinical implementation of pharmacogenetics is discussed. This review focuses on the advances of pharmacogenomics to individualize cancer treatments, the relationship between pharmacogenetics and pharmacodynamics in the clinical course of transplant patients receiving a combination of immunosuppressive therapy, the needs and barriers facing pharmacogenetic clinical application, and the situation of pharmacogenetic testing in Spain. It is based on lectures presented by speakers of the Clinical Implementation of Pharmacogenetics Symposium at the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held in April 20, 2015.
Topics: Genetic Testing; Humans; Immunosuppressive Agents; Neoplasms; Organ Transplantation; Pharmacogenetics; Precision Medicine; Spain
PubMed: 26751902
DOI: 10.1515/dmpt-2015-0031 -
Advances in Pharmacology (San Diego,... 2018Mental illness represents a major health issue both at the individual and at the socioeconomical level. This is partly due to the current suboptimal treatment options:... (Review)
Review
Mental illness represents a major health issue both at the individual and at the socioeconomical level. This is partly due to the current suboptimal treatment options: existing psychotropic medications, including antidepressants, antipsychotics, and mood stabilizers, are effective only in a subset of patients or produce partial response and they are often associated with debilitating side effects that discourage adherence. Pharmacogenetics is the study of how genetic information impacts on drug response/side effects with the goal to provide tailored treatments, thereby maximizing efficacy and tolerability. The first pharmacogenetic studies focused on candidate genes, previously known to be relevant to the pharmacokinetics and pharmacodynamics of psychotropic drugs. Results were mainly inconclusive, but some replicated candidates were identified and included as pharmacogenetic biomarkers in drug labeling and in some commercial kits. With the advent of the genomic revolution, it became possible to study the genetic variation on an unprecedented scale, throughout the whole genome with no need of a priori hypothesis. This may lead to the personalized prescription of existing medications and potentially to the development of innovative ones, thanks to new insights into the genetics of mental illness. Promising findings were obtained, but methods for the generation and analysis of genome-wide and sequencing data are still in evolution. Future pharmacogenetic tests may consist of hundreds/thousands of polymorphisms throughout the genome or selected pathways in order to take into account the complex interactions across variants in a number of genes.
Topics: Antidepressive Agents; Genome-Wide Association Study; Humans; Pharmacogenetics; Polymorphism, Genetic; Psychiatry; Psychotropic Drugs
PubMed: 29801579
DOI: 10.1016/bs.apha.2018.03.003 -
Neuroscience Letters May 2020
Topics: Genome-Wide Association Study; Humans; Mental Disorders; Pharmacogenetics; Psychotropic Drugs
PubMed: 31682873
DOI: 10.1016/j.neulet.2019.134602 -
Clinical Laboratory Aug 2023Next-generation sequencing (NGS) methods have become more commonly performed in clinical and research laboratories. (Review)
Review
BACKGROUND
Next-generation sequencing (NGS) methods have become more commonly performed in clinical and research laboratories.
METHODS
This review summarizes the current laboratory NGS-based diagnostic approaches in pharmacogenomics including targeted multi-gene panel sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS).
RESULTS
Clinical laboratories perform multiple non-uniform types of pharmacogenetic panels, which can reduce the overall number of single-gene tests to be more cost-efficient. Compared to the targeted multi-gene panels, which are not typically designed to detect novel variants, WES and WGS have a greater potential to identify secondary pharmacogenomic findings, which might be predictive for the pharmacotherapy outcome of different patient settings. WGS overcomes the limitations of WES enabling a more accurate exome-sequencing at appropriate coverage and the sequencing of non-coding regions. Different NGS-based study designs with different test strategies and study populations, varying sample sizes, and distinct analytical and interpretation procedures lead to different identification results of pharmacogenomic variants.
CONCLUSIONS
The rapid progress in gene sequencing technologies will overcome the clinical and laboratory challenges of WES and WGS. Further high throughput NGS-based pharmacogenomics studies in different populations and patient settings are necessary to expand knowledge about rare functional variants and to enhance translation in clinical practice.
Topics: Humans; Pharmacogenetics; High-Throughput Nucleotide Sequencing
PubMed: 37560847
DOI: 10.7754/Clin.Lab.2023.230103 -
The Medical Clinics of North America Nov 2019Pharmacogenomics (PGx) is a powerful tool that can predict increased risks of adverse effects and sub-therapeutic response to medications. This article establishes the... (Review)
Review
Pharmacogenomics (PGx) is a powerful tool that can predict increased risks of adverse effects and sub-therapeutic response to medications. This article establishes the core principles necessary for a primary care provider to meaningfully and prudently use PGx testing. Key topics include in which patients PGx testing should be considered, how PGx tests are ordered, how the results are translated into clinical recommendations, and what further advancements are likely in the near future. This will provide clinicians with a foundational knowledge of PGx that can allow incorporation of this tool into their practice or support further personal investigation.
Topics: Drug-Related Side Effects and Adverse Reactions; Humans; Pharmacogenetics; Precision Medicine; Primary Health Care
PubMed: 31582008
DOI: 10.1016/j.mcna.2019.07.002 -
Neuroscience Letters May 2020Anxiety disorders are common and disabling conditions the treatment of which remains a challenge. While different groups of medication are available for their treatment,... (Review)
Review
Anxiety disorders are common and disabling conditions the treatment of which remains a challenge. While different groups of medication are available for their treatment, a substantial proportion of patients remain refractory to pharmacotherapy. The reason for this variation in the individual response to treatment has yet to be understood; however genetic factors have been shown to play an important role. Up to now there have been limited publications about pharmacogenetics of anxiety disorders, compared to studies in depression. Published studies are focused on pharmacogenetics of antidepressants rather than being disease specific. This review summarizes pharmacogenetic findings related to the anxiolytic treatment response and their possible functional mechanisms. This inevitably focuses on genes involved in the pharmacodynamics of the medications used, along with some genes implicated in the disease process, as well as briefly mentioning genetic factors associated with psychotherapeutic response.
Topics: Animals; Anti-Anxiety Agents; Antidepressive Agents; Anxiety Disorders; Brain-Derived Neurotrophic Factor; Catechol O-Methyltransferase; Humans; Pharmacogenetics
PubMed: 31442515
DOI: 10.1016/j.neulet.2019.134443