scholarly journals Pharmacogenomics and Rheumatological Practice

Author(s):  
Chuanhui Xu ◽  
Khai Pang Leong

Pharmacogenomics, the study of the effect of genetics on the variation in drug response, is designed to maximize drug efficacy and minimize adverse effects. It is assuming increasing importance in clinical practice. Rheumatologists, who manage patients with complex diseases with unpredictable outcomes over long periods of time, should embrace tools that help customize treatment for their patients. In this article, the basis for pharmacogenomics is presented, followed by description of the tests relevant to drugs encountered in rheumatology practice, concluding with ideas about implementation and future developments.

2015 ◽  
Vol 22 (1) ◽  
pp. 84-90
Author(s):  
N. V Zagorodniy ◽  
K. M Bukhtin

Results of first Russian local prospective multicenter observational study with participation of 2293 patients who received rivaroxaban for prevention of thromboembolism after major joints arthroplasty are presented. The study was performed under conditions of “real clinical practice”, i.e. without any changes in postoperative management. Demographic indices, prevalence of aggravating anamnestic factors that determined the risk of thromboembolism development, and adverse effects (AE) against the background of drug intake were studied. Interruptions of rivaroxaban intake were noted in 5% of patients. The number of AE made up 52 in 45 patients and only in 11 cases AE were associated with rivaroxaban intake. Drug efficacy and tolerance was assessed by physicians as excellent and good in 97.9% and 98.8% of patients, respectively. The overwhelming majority (98.4%) of patients appreciated the convenience of oral anticoagulant intake. It was stated that under conditions of the organizational peculiarities of medical care in Russia the efficacy of rivaroxaban was comparable to that, demonstrated in foreign studies.


Author(s):  
N. V. Zagorodniy ◽  
K. M. Bukhtin

Results of first Russian local prospective multicenter observational study with participation of 2293 patients who received rivaroxaban for prevention of thromboembolism after major joints arthroplasty are presented. The study was performed under conditions of “real clinical practice”, i.e. without any changes in postoperative management. Demographic indices, prevalence of aggravating anamnestic factors that determined the risk of thromboembolism development, and adverse effects (AE) against the background of drug intake were studied. Interruptions of rivaroxaban intake were noted in 5% of patients. The number of AE made up 52 in 45 patients and only in 11 cases AE were associated with rivaroxaban intake. Drug efficacy and tolerance was assessed by physicians as excellent and good in 97.9% and 98.8% of patients, respectively. The overwhelming majority (98.4%) of patients appreciated the convenience of oral anticoagulant intake. It was stated that under conditions of the organizational peculiarities of medical care in Russia the efficacy of rivaroxaban was comparable to that, demonstrated in foreign studies.


2020 ◽  
Vol 58 (2) ◽  
pp. 69-74
Author(s):  
Hollie Saunders ◽  
Dana Harris ◽  
Răzvan M. Chirilă

AbstractPharmacogenomics describes the link between the genetic code and variations in drug response or adverse effects. It is rapidly gaining in both interest and accessibility. The knowledge of the gene-drug pairing for a wide range of medications will allow the clinician to select drugs with the best efficacy, appropriate dose and lowest likelihood of serious side effects.In order to apply this knowledge, practitioners need to be familiar with the basic principles of pharmacodynamics and pharmacokinetics and how these relate to drug response. Once these are understood, so can be the genetic variations that lead to different phenotypes. Our review explains these concepts and uses examples of commonly prescribed medications and their gene pairings. At the present time, the Food and Drug Administration (FDA) guidelines remain sparse in regards to pharmacogenomic testing but, despite this, direct-to-consumer testing is widely available. In this context, we detail how to interpret a pharmacogenomic report, we review the indications for testing, as well as its limitations.This information is a step ahead towards invidualized medicine, in the hope that tailoring medications and doses to an individual’s genetic make-up will predict a safe and effective response.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jurriaan M. J. L. Brouwer ◽  
Erien Olde Hengel ◽  
Arne J. Risselada ◽  
Eric N. van Roon ◽  
Hans Mulder

Abstract Background Clinical practice guidelines (CPGs) recommend the monitoring of somatic parameters in patients treated with antipsychotic drugs in order to detect adverse effects. The objective of this study was to assess, in adult and (frail) elderly populations, the consistency and applicability of the somatic monitoring instructions recommended by established CPGs prior to and during antipsychotic drug use. Methods A search for national and international CPGs was performed by querying the electronic database PubMed and Google. Somatic monitoring instructions were assessed for adult and (frail) elderly populations separately. The applicability of somatic monitoring instructions was assessed using the Systematic Information for Monitoring (SIM) score. Somatic monitoring instructions were considered applicable when a minimum SIM score of 3 was reached. Results In total, 16 CPGs were included, with a total of 231 somatic monitoring instructions (mean: 14; range: 0–47). Of the somatic monitoring instructions, 87% were considered applicable, although critical values and how to respond to aberrant values were only present in 28 and 52% of the available instructions respectively. Only 1 CPG presented an instruction specifically for (frail) elderly populations. Conclusions We emphasize the need for a guideline with somatic monitoring instructions based on the SIM definition for both adult and (frail) elderly populations using antipsychotic drugs. In addition, CPGs should state that clear agreements should be made regarding who is responsible for interventions and somatic monitoring prior to and during antipsychotic drug use.


2014 ◽  
Vol 23 (4) ◽  
pp. 329-331 ◽  
Author(s):  
C. Barbui ◽  
S.B. Patten

Although the mechanism by which antidepressants (ADs) may increase the risk of suicide-related outcomes is unknown, it has been hypothesised that some adverse effects, including akathisia, insomnia and panic attacks, as well as an early energising effect that might allow patients with depression to act on suicidal impulses, may have a key role. Considering that these adverse effects are dose-related, it might be hypothesised that the risk of suicidal behaviour is similarly related to the AD dose. This research question has recently been addressed by a propensity score-matched observational cohort study that involved 162 625 patients aged 10–64 years with a depression diagnosis who initiated therapy with citalopram, sertraline or fluoxetine. In this commentary, we discuss the main findings of this study in view of its methodological strengths and limitations, and we suggest possible implications for day-to-day clinical practice.


2018 ◽  
Author(s):  
Lisa-Katrin Turnhoff ◽  
Ali Hadizadeh Esfahani ◽  
Maryam Montazeri ◽  
Nina Kusch ◽  
Andreas Schuppert

Translational models that utilize omics data generated in in vitro studies to predict the drug efficacy of anti-cancer compounds in patients are highly distinct, which complicates the benchmarking process for new computational approaches. In reaction to this, we introduce the uniFied translatiOnal dRug rESponsE prEdiction platform FORESEE, an open-source R-package. FORESEE not only provides a uniform data format for public cell line and patient data sets, but also establishes a standardized environment for drug response prediction pipelines, incorporating various state-of-the-art preprocessing methods, model training algorithms and validation techniques. The modular implementation of individual elements of the pipeline facilitates a straightforward development of combinatorial models, which can be used to re-evaluate and improve already existing pipelines as well as to develop new ones. Availability and Implementation: FORESEE is licensed under GNU General Public License v3.0 and available at https://github.com/JRC-COMBINE/FORESEE . Supplementary Information: Supplementary Files 1 and 2 provide detailed descriptions of the pipeline and the data preparation process, while Supplementary File 3 presents basic use cases of the package. Contact: [email protected]


PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e9721
Author(s):  
Sagheer Ahmed ◽  
Nadeem Altaf ◽  
Mahnoor Ejaz ◽  
Zaira Zulfiqar ◽  
Kholood Janjua ◽  
...  

Genetic polymorphism in cytochrome P450 (CYP) monooxygenase genes is an important source of interindividual variability of drug response. CYP enzyme activities may change as a result of such polymorphisms which then, may affect drug metabolism. This would result in a change in the severity and frequency of adverse effects in addition to the non-responder phenomenon. CYP2E1, a member of CYP superfamily, affects the metabolism of several clinically important drugs such as halothane, paracetamol, etc. Genetic variation in CYP2E1 is known to cause significant inter-individual differences in drug response and adverse effects. The degree of genetic variation is found to be different in different populations around the world. The frequencies of two important polymorphisms in the CYP2E1*7C, NC_000010.10:g.135340548A>G (rs2070672) and CYP2E1, NC_000010.10:g.135339244G>C (rs3813865), are not known in the Pakistani population. In the present investigation, 636 healthy human volunteers were screened for these two single nucleotide polymorphism. Our results indicate that about 18% (rs2070672) and 28% (rs3813865) of the Pakistani population has a genotype containing at least one low activity allele. A significant interethnic variation in the frequencies of both the polymorphisms was observed. These results suggest that pharmacogenetics screening for low activity genotypes would be a helpful tool for clinicians when they prescribe medications metabolized by CYP2E1, as a significant fraction of the Pakistani population is expected to have a variable response to these drugs.


2021 ◽  
Vol 3 (1) ◽  
pp. 4-8
Author(s):  
Sin Sil Ha ◽  
Kazi Rubaina ◽  
Chung-Shien Lee ◽  
Veena John ◽  
Nagashree Seetharamu

Despite reports of amifostine possibly protecting nephrotoxicity from cisplatin, it has not been recommended by any guidelines committees or routinely prescribed in clinical practice over the past decade. In this article, we review literature and guidelines regarding use of amifostine in oncology practice for protection against adverse effects from certain chemotherapeutic agents, in particular as a nephro-protectant in patients receiving cisplatin.


Neurosurgery ◽  
2012 ◽  
Vol 71 (3) ◽  
pp. 557-561 ◽  
Author(s):  
◽  
Sepideh Amin-Hanjani ◽  
Fred G. Barker ◽  
Fady T. Charbel ◽  
E. Sander Connolly ◽  
...  

Abstract The results of the recently published Carotid Occlusion Surgery Study, which failed to show a benefit of extracranial-intracranial (EC-IC) bypass over medical therapy in patients with symptomatic hemodynamically significant carotid occlusion, have been interpreted by some as the end of the line for EC-IC bypass in the management of stroke. Despite being carefully conceived and executed, several aspects of the trial design, study population, and underlying assumptions deserve further examination to determine how best to translate these results into clinical practice. Although a general expansion of EC-IC bypass use in this population would not be supported by the trial results, a select subset of patients with medically refractory hemodynamic symptoms may well benefit from surgery performed with sufficiently low perioperative morbidity. The potential for beneficial functional or cognitive impact of revascularization also remains under investigation. Limited application and further study with an eye to future developments, rather than complete abandonment, is warranted.


2019 ◽  
Vol 1 (2) ◽  
Author(s):  
Beatriz Mateos ◽  
Cora Palanca-Ballester ◽  
Esteban Saez-Gonzalez ◽  
Inés Moret ◽  
Adrian Lopez ◽  
...  

Abstract Epigenetics has emerged as a new and promising field in recent years. Because there exists a need to find new biomarkers and improve diagnosis, prognosis, and drug response for inflammatory bowel diseases, the research on epigenetic biomarkers for molecular diagnostics encourages the translation of this field from the bench to the clinical practice. In this review, we present an overview of the current knowledge and its potential applicability of this emerging field in inflammatory bowel diseases.


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