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Psychiatry Research Nov 2021
Topics: Humans; Pharmacogenetics; Pharmacogenomic Testing
PubMed: 34678523
DOI: 10.1016/j.psychres.2021.114236 -
Clinical Pharmacology and Therapeutics Oct 2012Although there is increasing evidence to support the implementation of pharmacogenetics in certain clinical scenarios, the adoption of this approach has been limited.... (Review)
Review
Although there is increasing evidence to support the implementation of pharmacogenetics in certain clinical scenarios, the adoption of this approach has been limited. The advent of preemptive and inexpensive testing of critical pharmacogenetic variants may overcome barriers to adoption. We describe the design of a customized array built for the personalized-medicine programs of the University of Florida and Stanford University. We selected key variants for the array using the clinical annotations of the Pharmacogenomics Knowledgebase (PharmGKB), and we included variants in drug metabolism and transporter genes along with other pharmacogenetically important variants.
Topics: Cost-Benefit Analysis; Genotype; Humans; Oligonucleotide Array Sequence Analysis; Pharmacogenetics; Polymorphism, Single Nucleotide; Precision Medicine
PubMed: 22910441
DOI: 10.1038/clpt.2012.125 -
Expert Opinion on Drug Metabolism &... May 2009Genetic variants of ADME (absorption, distribution, metabolism and elimination) related genes have been consistently associated with pharmacokinetic properties of... (Review)
Review
BACKGROUND
Genetic variants of ADME (absorption, distribution, metabolism and elimination) related genes have been consistently associated with pharmacokinetic properties of numerous drugs. However, the association between these genetic markers and clinical outcomes remains controversial.
OBJECTIVE
Inform future pharmacogenetic ADME research and define the terms and practices for the utility of this approach.
METHODS
Review of case studies, where ADME genetic markers have been applied, either successfully or inefficiently. In each case, the level of evidence was examined by reviewing independent, soundly designed reports. The impact on health outcomes that may, or may not, demonstrate clinical utility was also assessed.
CONCLUSIONS
ADME genetic markers can account for clinically relevant variance as related to drug response phenotypes, but scant evidence has been produced thus far to demonstrate their clinical utility. Particularly in the context of drug development, several considerations and practices are suggested, which may guide proper analysis, interpretation and translation into improved healthcare in a cost-effective fashion.
Topics: Animals; Cost-Benefit Analysis; Drug Design; Genetic Markers; Humans; Pharmacogenetics; Pharmacokinetics; Phenotype
PubMed: 19416082
DOI: 10.1517/17425250902902322 -
European Journal of Cancer (Oxford,... Oct 2014There are an increasing number of studies devoted to the identification of associations between anticancer drug efficacy and toxicity and common polymorphisms present in... (Review)
Review
There are an increasing number of studies devoted to the identification of associations between anticancer drug efficacy and toxicity and common polymorphisms present in the patients' genome. However, many articles presenting the results of such studies do not bring the simple and necessary background information allowing the evaluation of the relevance of the study, its significance and its potential importance for patients' treatment. This position paper first addresses clinical oncologists with the aim of giving them the basic knowledge on pharmacogenetics and on the potential use of gene polymorphisms as predictive biomarkers in routine and clinical research. A secondary objective is to give molecular biologists some recommendations on how to conceive protocols and how to publish their results when they develop pharmacogenetic studies appended to clinical trials or with autonomous goals.
Topics: Clinical Trials as Topic; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Neoplasms; Pharmacogenetics; Polymorphism, Genetic; Treatment Outcome
PubMed: 25103456
DOI: 10.1016/j.ejca.2014.07.013 -
Expert Opinion on Pharmacotherapy Dec 2005The immunosuppressive drugs used in organ transplantation have a narrow therapeutic index, with rejection occurring as a consequence of underdosing and infection,... (Review)
Review
The immunosuppressive drugs used in organ transplantation have a narrow therapeutic index, with rejection occurring as a consequence of underdosing and infection, malignancy and a number of drug-specific side effects with excessive dosing. Significant heterogeneity in the dose of drug required to achieve therapeutic blood concentrations adds to the complexity of the problem, which has been partly resolved by therapeutic drug monitoring. Single nucleotide polymorphisms have been identified in genes encoding metabolic enzymes, drug efflux pumps and drug targets for most of the drugs in widespread use. A pharmacogenetic approach to immunosuppressive drug prescribing remains to be tested. Based on current evidence, the most promising strategy would be use of the cytochrome P450 3A5 expressor genotype to guide initial dosing with tacrolimus.
Topics: Animals; Dose-Response Relationship, Drug; Drug Administration Schedule; Humans; Immunosuppressive Agents; Organ Transplantation; Pharmacogenetics
PubMed: 16316299
DOI: 10.1517/14656566.6.15.2593 -
Heart Failure Clinics Oct 2011There is ongoing research into potential pharmacogenetic targets in heart failure. Several challenges exist despite the potential benefits, and questions remain on the... (Review)
Review
There is ongoing research into potential pharmacogenetic targets in heart failure. Several challenges exist despite the potential benefits, and questions remain on the level of evidence needed to support product approval or labeling. High annual mortality, high morbidity, and heterogeneity of response to treatment underscore the need for predictability of response in this patient population. Although prime time testing and application of pharmacogenetics is not currently being used in heart failure, we believe this treatment approach is not too distant. The data are supportive, and further research is warranted to strengthen the approach.
Topics: Cardiovascular Agents; Clinical Trials as Topic; Heart Failure; Humans; Pharmacogenetics
PubMed: 21925439
DOI: 10.1016/j.hfc.2011.06.010 -
Nederlands Tijdschrift Voor Geneeskunde Jan 2001Pharmacogenetics deals with the differences in effect of drugs caused by genetic variation. Differences can occur in therapeutic effect and in adverse events. Genetic... (Review)
Review
Pharmacogenetics deals with the differences in effect of drugs caused by genetic variation. Differences can occur in therapeutic effect and in adverse events. Genetic variation in metabolism may result in high concentrations of drugs and an increased risk of adverse effects in slow metabolizers, which is important when using for example antidepressants or chemotherapy. Genetic variation also occurs in proteins interacting with drugs, which may change the effect of e.g. asthma drugs and antipsychotics. The selection of drugs and their dosages may be improved, and the number of adverse effects reduced by pharmacogenetic investigations. However, it may be important also in case of medical examinations for insurances and job appointments, since some patients may turn out to need expensive drugs or to be susceptible to a certain disease. Therefore, the use of genetic data in these instances has to be regulated.
Topics: Drug Interactions; Drug Utilization; Drug-Related Side Effects and Adverse Reactions; Health Benefit Plans, Employee; Humans; Insurance Selection Bias; Netherlands; Personnel Selection; Pharmacogenetics
PubMed: 11198959
DOI: No ID Found -
BMC Medical Genetics May 2015Pharmacogenetics is a rapidly growing field that aims to identify the genes that influence drug response. This science can be used as a powerful tool to tailor drug...
BACKGROUND
Pharmacogenetics is a rapidly growing field that aims to identify the genes that influence drug response. This science can be used as a powerful tool to tailor drug treatment to the genetic makeup of individuals. The present study explores the coverage of the topic of pharmacogenetics and its potential benefit in personalised medicine by the UK newsprint media.
METHODS
The LexisNexis database was used to identify and retrieve full text articles from the 10 highest circulation national daily newspapers and their Sunday equivalents in the UK. Content analysis of newspaper articles which referenced pharmacogenetic testing was carried out. A second researcher coded a random sample (21%) of newspaper articles to establish the inter-rater reliability of coding.
RESULTS
Of the 256 articles captured by the search terms, 96 articles (with pharmacogenetics as a major component) met the study inclusion criteria. The majority of articles over-stated the benefits of pharmacogenetic testing while paying less attention to the associated risks. Overall beneficial effects were mentioned 5.3 times more frequently than risks (p < 0.001). The most common illnesses for which pharmacogenetically based personalised medicine was discussed were cancer, cardiovascular disease and CNS diseases. Only 13% of newspaper articles that cited a specific scientific study mentioned this link in the article. There was a positive correlation between the size of the article and both the number of benefits and risks stated (P < 0.01).
CONCLUSION
More comprehensive coverage of the area of personalised medicine within the print media is needed to inform public debate on the inclusion of pharmacogentic testing in routine practice.
Topics: Newspapers as Topic; Pharmacogenetics; Precision Medicine; Public Opinion; Risk
PubMed: 25956914
DOI: 10.1186/s12881-015-0172-3 -
Actas Dermo-sifiliograficas 2007Pharmacogenetics refers to the study of the individual pharmacological response based on the genotype. Its objective is to optimize treatment in an individual basis,... (Review)
Review
Pharmacogenetics refers to the study of the individual pharmacological response based on the genotype. Its objective is to optimize treatment in an individual basis, thereby creating a more efficient and safe personalized therapy. In the second part of this review, the molecular methods of study in pharmacogenetics, including microarray technology or DNA chips, are discussed. Among them we highlight the microarrays used to determine the gene expression that detect specific RNA sequences, and the microarrays employed to determine the genotype that detect specific DNA sequences, including polymorphisms, particularly single nucleotide polymorphisms (SNPs). The relationship between pharmacogenetics, bioinformatics and ethical concerns is reviewed.
Topics: Computational Biology; Gene Expression Profiling; Genotype; Humans; Oligonucleotide Array Sequence Analysis; Pharmacogenetics; Polymorphism, Genetic
PubMed: 17374327
DOI: No ID Found -
Psychiatry Research Aug 2019Lithium is among the best proven treatments for patients diagnosed with Bipolar Disorder, however response to Lithium appears to be considerably variable among...
Lithium is among the best proven treatments for patients diagnosed with Bipolar Disorder, however response to Lithium appears to be considerably variable among individuals and it has been suggested that this inconstancy in Lithium response could be genetically determined. Starting from this perspective, in the last few decades, a number of pharmacogenetic studies have attempted to identify genetic variants, which might be associated with response to Lithium in bipolar patients, in order to develop a pharmacogenetics test to tailor treatment on patients, identifying who will benefit the most from therapy with Lithium. Within this context, authors have critically reviewed pharmacogenetic studies of Lithium response in bipolar disorder, suggesting strategies for future work in this field. Computerized searches of PubMed and Embase databases, for studies published between 1998 and January 2018, was performed: 1162 studies were identified but only 37 relevant papers were selected for detailed review. Despite some interesting preliminary findings, the pharmacogenetics of Lithium and the development of a specific pharmacogenetics test in bipolar disorder appears to be a field still in its infancy, even though the advent of genome-wide association studies holds particular promise for future studies, which should include larger samples.
Topics: Bipolar Disorder; Genome-Wide Association Study; Humans; Lithium; Pharmacogenetics; Randomized Controlled Trials as Topic
PubMed: 31146140
DOI: 10.1016/j.psychres.2019.05.036