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Matthias Samwald, Hong Xu, Kathrin Blagec, Philip E Empey, Daniel C Malone, Seid Mussa Ahmed, Patrick Ryan, Sebastian Hofer, Richard D Boyce
Pre-emptive pharmacogenomic (PGx) testing of a panel of genes may be easier to implement and more cost-effective than reactive pharmacogenomic testing if a sufficient number of medications are covered by a single test and future medication exposure can be anticipated. We analysed the incidence of exposure of individual patients in the United States to multiple drugs for which pharmacogenomic guidelines are available (PGx drugs) within a selected four-year period (2009-2012) in order to identify and quantify the incidence of pharmacotherapy in a nation-wide patient population that could be impacted by pre-emptive PGx testing based on currently available clinical guidelines...
2016: PloS One
Ange C Iliza, Alexis Matteau, Jason R Guertin, Dominic Mitchell, Fiorella Fanton-Aita, Anick Dubois, Marie-Pierre Dubé, Jean-Claude Tardif, Jacques LeLorier
Pharmacogenomics (PGx) tests have the potential of improving the effectiveness of expensive new drugs by predicting the likelihood, for a particular patient, to respond to a treatment. The objective of this study was to develop a pharmacoeconomic model to determine the characteristics and the cost-effectiveness of a hypothetical PGx test, which would identify patients who are most likely to respond to an expensive treatment for chronic heart failure. For this purpose, we chose the example of ivabradine. Our results suggest that the use of a PGx test that could select a subgroup of patients to be treated with an expensive drug has the potential to provide more efficient drug utilization...
October 10, 2016: Pharmacogenomics
Ana M Peiró, Beatriz Planelles, Gabriella Juhasz, György Bagdy, Frédéric Libert, Alain Eschalier, Jérôme Busserolles, Beata Sperlagh, Adrián Llerena
The experience of chronic pain is one of the commonest reasons for seeking medical attention, being a major issue in clinical practice. While pain is a universal experience, only a small proportion of people who felt pain develop pain syndromes. In addition, painkillers are associated with wide inter-individual variability in the analgesic response. This may be partly explained by the presence of single nucleotide polymorphisms in genes encoding molecular entities involved in pharmacodynamics and pharmacokinetics...
September 1, 2016: Drug Metabolism and Personalized Therapy
Susanne B Haga, Rachel Mills, Jivan Moaddeb, Nancy Allen Lapointe, Alex Cho, Geoffrey S Ginsburg
AIM: To investigate patient experiences with pharmacogenetic (PGx) testing. METHODS: Patients were offered PGx testing through a study on pharmacist-assisted delivery of PGx testing and invited to complete pre- and post-testing surveys about their experience. RESULTS: Of 63 patients tested, 17 completed the baseline survey (27%). Interest in testing was mostly impacted by desire to inform selection of best treatment (n = 13). Seven of 12 patients that completed the follow-up survey indicated that their provider discussed the test result with them...
October 2016: Pharmacogenomics
Kleanthi Lakiotaki, Evgenia Kartsaki, Alexandros Kanterakis, Theodora Katsila, George P Patrinos, George Potamias
One of the challenges that arise from the advent of personal genomics services is to efficiently couple individual data with state of the art Pharmacogenomics (PGx) knowledge. Existing services are limited to either providing static views of PGx variants or applying a simplistic match between individual genotypes and existing PGx variants. Moreover, there is a considerable amount of haplotype variation associated with drug metabolism that is currently insufficiently addressed. Here, we present a web-based electronic Pharmacogenomics Assistant (ePGA; http://www...
2016: PloS One
Raymond R MacNeil, Daniel J Müller
The effectiveness of antipsychotic drugs is limited due to accompanying adverse effects which can pose considerable health risks and lead to patient noncompliance. Pharmacogenetics (PGx) offers a means to identify genetic biomarkers that can predict individual susceptibility to antipsychotic-induced adverse effects (AAEs), thereby improving clinical outcomes. We reviewed the literature on the PGx of common AAEs from 2010 to 2015, placing emphasis on findings that have been independently replicated and which have additionally been listed to be of interest by PGx expert panels...
July 2016: Molecular Neuropsychiatry
Cheedy Jaja, Nadine Barrett, Niren Patel, Matt Lyon, Hongyan Xu, Abdullah Kutlar
AIMS: Interindividual variability in drug response and adverse effects have been described for proton pump inhibitors, anticonvulsants, selective serotonin reuptake inhibitors, tricyclic antidepressants, and anti-infectives, but little is known about the safety and efficacy of these medications in patients with sickle cell disease (SCD). We genotyped the CYP2C19 gene which has been implicated in the metabolism of these drugs in an SCD patient cohort to determine the frequencies of reduced function, increased function, or complete loss-of-function variants...
October 2016: Genetic Testing and Molecular Biomarkers
Susanne B Haga, Rachel Mills
AIM: We aimed to understand consent practices for pharmacogenetic (PGx) testing. METHODS: We conducted a literature review and analysis of consent forms from clinical laboratories offering PGx testing. RESULTS: Our review of the literature shows a lack of consensus about the need for and type of informed consent for PGx testing. We identified 35 companies offering PGx testing and were able to confirm consent practices for 22 of those. We found a range of variability in the consent practices regarding the consent approach and information disclosed...
September 2016: Pharmacogenomics
Susanne B Haga, Rachel Mills, Jivan Moaddeb
AIM: Over the past several decades, the roles and services of community pharmacists have expanded beyond traditional medical dispensation and compounding, and include health services such as vaccinations, and clinical testing and screening. Incorporating pharmacogenetic (PGx) testing into the menu of pharmacy services is logical and feasible; however, few pharmacists have experience with PGx testing, and few educational resources about PGx are available to support the uptake of PGx testing in community pharmacies...
September 2016: Pharmacogenomics
Line Jensen, Claus Børsting, Kim Dalhoff, Niels Morling
OBJECTIVES: The iPlex® ADME PGx Pro Panel was developed to investigate 191 polymorphisms including single nucleotide polymorphisms (SNPs), insertion-deletions (INDELS), and copy number variations (CNV) relevant for absorption, distribution, metabolism, and excretion (ADME) of drugs. The purpose of this study was to perform a technical evaluation of the iPlex® ADME PGx Pro Panel by genotyping 50 unrelated Danes and estimate preliminary genotype frequencies among Danes. DESIGN AND METHODS: The investigations were performed by the use of PCR, single base extension (SBE) and Matrix Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF-MS)...
July 23, 2016: Clinical Biochemistry
Susanne B Haga
INTRODUCTION: Just as technology was the underlying driver of the sequencing of the human genome and subsequent generation of volumes of genome sequence data from healthy and affected individuals, animal, plant, and microbial species alike, so too will technology revolutionize diagnostic testing. One area of intense interest is the use of genetic data to inform decisions regarding drug selection and drug dosing, known as pharmacogenetic (PGx) testing, to improve likelihood of successful treatment outcomes with minimal risks...
September 2016: Expert Review of Molecular Diagnostics
Shannon F Manzi, Vincent A Fusaro, Laura Chadwick, Catherine Brownstein, Catherine Clinton, Kenneth D Mandl, Wendy A Wolf, Jared B Hawkins
OBJECTIVE: This paper outlines the implementation of a comprehensive clinical pharmacogenomics (PGx) service within a pediatric teaching hospital and the integration of clinical decision support in the electronic health record (EHR). MATERIALS AND METHODS: An approach to clinical decision support for medication ordering and dispensing driven by documented PGx variant status in an EHR is described. A web-based platform was created to automatically generate a clinical report from either raw assay results or specified diplotypes, able to parse and combine haplotypes into an interpretation for each individual and compared to the reference lab call for accuracy...
June 14, 2016: Journal of the American Medical Informatics Association: JAMIA
Yingqi Zhang, Seumsack Dennis Somtakoune, Christina Cheung, Mario Listiawan, Xiaodong Feng
Personalizing cancer treatment has been proved to be difficult for healthcare providers due to the nature of chemotherapies which includes narrow therapeutic indices, severe and potential life-threatening toxicities, and variable response rates and efficacies. Studies in pharmacogenomics (PGx) may help guide clinicians to personalize treatment for cancer patients. Implementing PGx in cancer treatment may offer choices to anticipate differences in drug response, resistance, efficacy, and toxicity within chemotherapeutic agents and targeted immune biologic agents...
July 2016: AAPS Journal
Vicky A Solah, Babette O'Mara-Wallace, Xingqiong Meng, Roland J Gahler, Deborah A Kerr, Anthony P James, Haelee K Fenton, Stuart K Johnson, Simon Wood
The effect of consumption of PolyGlycopleX(®) (PGX(®)) was compared to wheat dextrin (WD) in combination with a standard meal, on postprandial satiety and glycaemia in a double-blind, randomised crossover trial, of 14 healthy subjects trained as a satiety panel. At each of six two-hour satiety sessions, subjects consumed one of three different test meals on two separate occasions. The test meals were: a standard meal plus 5 g PGX; a standard meal plus 4.5 g of PGX as softgels; and a standard meal plus 5 g of WD...
2016: Nutrients
Jennifer L St Sauver, Suzette J Bielinski, Janet E Olson, Elizabeth J Bell, Michaela E Mc Gree, Debra J Jacobson, Jennifer B McCormick, Pedro J Caraballo, Paul Y Takahashi, Veronique L Roger, Carolyn R Rohrer Vitek
BACKGROUND: Limited information is available regarding primary care clinicians' response to pharmacogenomic clinical decision support (PGx-CDS) alerts integrated in the electronic health record. METHODS: In February 2015, 159 clinicians in the Mayo Clinic primary care practice were sent e-mail surveys to understand their perspectives on the implementation and use of pharmacogenomic testing in their clinical practice. Surveys assessed how the clinicians felt about pharmacogenomics and whether they thought electronic PGx-CDS alerts were useful...
October 2016: American Journal of Medicine
Joseph Finkelstein, Carol Friedman, George Hripcsak, Manuel Cabrera
Pharmacogenomic (PGx) testing has been increasingly used to optimize drug regimens; however, its potential in older adults with polypharmacy has not been systematically studied. In this hypothesis-generating study, we employed a case series design to explore potential utility of PGx testing in older adults with polypharmacy and to highlight barriers in implementing this methodology in routine clinical practice. Three patients with concurrent chronic heart and lung disease aged 74, 78, and 83 years and whose medication regimen comprised 26, 17, and 18 drugs, correspondingly, served as cases for this study...
2016: Pharmacogenomics and Personalized Medicine
Wolfgang Kuch, Christoph Rinner, Walter Gall, Matthias Samwald
Pre-emptive pharmacogenetic (PGx) testing combined with clinical decision support is a promising new strategy for making pharmacotherapy safer and more effective. To estimate the number of patients whose therapies could be guided by this approach, we analysed claims data for patients in Austria in the years 2006 and 2007. We calculated the number of patients receiving one or several drugs for with pharmacogenomic guidelines are available (PGx drugs). The cohort consisted of 6,761,034 patients and was split into four age groups...
2016: Studies in Health Technology and Informatics
Payman Shahabi, Laura B Scheinfeldt, Daniel E Lynch, Tara J Schmidlen, Sylvie Perreault, Margaret A Keller, Rachel Kasper, Lisa Wawak, Joseph P Jarvis, Norman P Gerry, Erynn S Gordon, Michael F Christman, Marie-Pierre Dubé, Neda Gharani
Pharmacogenomics (PGx) guided warfarin dosing, using a comprehensive dosing algorithm, is expected to improve dose optimisation and lower the risk of adverse drug reactions. As a complementary tool, a simple genotype-dosing table, such as in the US Food and Drug Administration (FDA) Coumadin drug label, may be utilised for general risk assessment of likely over- or under-anticoagulation on a standard dose of warfarin. This tool may be used as part of the clinical decision support for the interpretation of genetic data, serving as a first step in the anticoagulation therapy decision making process...
August 1, 2016: Thrombosis and Haemostasis
David F Kisor, David R Bright, Chelsea R Manion, Thomas R Smith
Pharmacogenomics (PGx) describes the relationship between an individual's genes and his or her response to drug therapy. Data are accumulating that indicate that PGx has application in the clinical setting for drugs across therapeutic categories, including drugs that are administered intravenously and are of greater familiarity to infusion nurses. This article provides an overview of the science and presents common examples of PGx as it relates to drug and/or drug dose selection. Additionally, there are brief summaries of the role infusion nurses can play relative to toxicity monitoring, patient education, and other aspects of PGx...
May 2016: Journal of Infusion Nursing: the Official Publication of the Infusion Nurses Society
Yuya Masuda, Kazuhiko Matsuno, Chikara Shimizu
In recent years, thrombotic disease, including myocardial infarction and ischemic stroke, has rapidly increased in Japan. To treat and prevent thromboembolism, warfarin has been commonly prescribed for a long period as an oral anticoagulant. However, it is difficult to define an appropriate warfarin dose because of large inter-individual variability in dose requirements and the narrow therapeutic range. Recent pharmacogenomic (PGx) studies have shown that several single nucleotide polymorphisms (SNPs) in CYP2C9 (warfarin metabolic enzyme) and VKORC1 (warfarin target enzyme) are responsible for an individual's warfarin sensitivity...
November 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
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