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Pharmacogenomics in Primary Care

Marie-Jeanne Bertrand, Jean-Claude Tardif
Cardiovascular (CV) atherosclerotic disease remains the leading cause of morbidity and mortality worldwide, despite the advances in contemporary therapies. Inflammation is an important process in atherosclerosis, leading to plaque rupture and acute coronary syndrome. Although statin therapy has substantially reduced CV events in primary and secondary prevention, many treated patients will have recurrent adverse CV events despite the standard of care. Thus, drug development aiming to target inflammatory pathways seems a promising avenue for novel therapies in atherosclerosis...
December 22, 2016: Expert Opinion on Emerging Drugs
Cristina Longo, Vasiliki Rahimzadeh, Kieran O'Doherty, Gillian Bartlett
AIM: Primary care physicians will play a central role in the successful implementation of pharmacogenomics (PGx); however, important challenges remain. We explored the perspectives of stakeholders on key challenges of the PGx translation process in primary care using deliberative consultations. METHODS: Primary care physicians, patients and policy-makers attended deliberations, where they discussed four ethical questions raised by PGx research and implementation in the primary care context...
October 21, 2016: Pharmacogenomics
K Yadav, M Sharma, K C Ferdinand
AIMS: Our comprehensive review highlights the drug development and pharmacogenomics leading to the recent approval of PCSK9 inhibitors. We also review the anticipated future advances into the uses of PCSK9 inhibition. BACKGROUND: Despite the present advances in pharmacotherapy, atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of mortality worldwide. Low density lipoprotein-cholesterol (LDL-C) lowering is the primary target for ASCVD risk reduction, showing demonstrable benefits in mortality...
October 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
Kathleen McCormick
Nurses are the primary deliverers of patient care and observers of patient side effects to medications. The primary objective of this tutorial is to bring the participants up to date in genomic applications for nursing from birth until death. A secondary objective is to define at least 17 pharmacogenomics evidence guidelines ready for implementation into the Electronic Health Record. The target audience are nurses in practice, implementers of EHRs, nursing in leadership and policy-making positions, those focused on defining new areas for nursing research, and educators who are in need of defining criteria for integrating genomics into nursing education...
2016: Studies in Health Technology and Informatics
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
Allison M Cole, Kari A Stephens, Gina A Keppel, Hossein Estiri, Laura-Mae Baldwin
CONTEXT: The widespread adoption of electronic health records (EHRs) offers significant opportunities to conduct research with clinical data from patients outside traditional academic research settings. Because EHRs are designed primarily for clinical care and billing, significant challenges are inherent in the use of EHR data for clinical and translational research. Efficient processes are needed for translational researchers to overcome these challenges. The Data QUEST Coordinating Center (DQCC), which oversees Data Query Extraction Standardization Translation (Data QUEST) - a primary-care, EHR data-sharing infrastructure - created processes that guide EHR data extraction for clinical and translational research across these diverse practices...
2016: EGEMS
Christopher D Hart, Francesca Galardi, Marta Pestrin, Francesca De Luca, Emanuela Risi, Angelo Di Leo
In the era of precision medicine in oncology, pharmacogenomic assessment is a vital step in delivering personalized care. Increasing evidence points towards the importance of assessing molecular features of the advanced disease, rather than relying on the primary tumor sample, in order to appreciate the evolution of the tumor and to target relevant features. Circulating tumor cells (CTCs) represent a novel method of tumor sampling, as they offer a contemporaneous picture of the current disease state without the need for invasive needle biopsy...
April 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Kurt D Christensen, Dmitry Dukhovny, Uwe Siebert, Robert C Green
Despite dramatic drops in DNA sequencing costs, concerns are great that the integration of genomic sequencing into clinical settings will drastically increase health care expenditures. This commentary presents an overview of what is known about the costs and cost-effectiveness of genomic sequencing. We discuss the cost of germline genomic sequencing, addressing factors that have facilitated the decrease in sequencing costs to date and anticipating the factors that will drive sequencing costs in the future. We then address the cost-effectiveness of diagnostic and pharmacogenomic applications of genomic sequencing, with an emphasis on the implications for secondary findings disclosure and the integration of genomic sequencing into general patient care...
2015: Journal of Personalized Medicine
Eric Van Cutsem, Takayuki Yoshino, Julia Hocke, Zohra Oum'Hamed, Matus Studeny, Josep Tabernero
BACKGROUND: Clinical studies of antivascular endothelial growth factor (anti-VEGF) agents have demonstrated that angiogenesis is critical to colorectal cancer (CRC) tumor growth and metastasis. Nintedanib is a triple angiokinase inhibitor of VEGF, platelet-derived growth factor, and fibroblast growth factor signaling. Nintedanib, combined with docetaxel, has been approved in the European Union for the treatment of patients with non-small-cell lung cancer with adenocarcinoma tumor histologic type after first-line chemotherapy...
March 2016: Clinical Colorectal Cancer
Daniel Alicata, Amanda Schroepfer, Tim Unten, Ruby Agoha, Susana Helm, Michael Fukuda, Daniel Ulrich, Stanton Michels
OBJECTIVE: The goal of the University of Hawaii (UH) child and adolescent psychiatry telemental health (TMH) program is to train child and adolescent psychiatry fellows to provide behavioral health services for the children of Hawaii and the Pacific Islands in the cultural context of their rural communities using interactive videoteleconferencing (IVTC). The training experience balances learning objectives with community service. Learning objectives include: Understanding mental health disparities in rural communities, leveraging community resources in ongoing treatment, providing culturally effective care, and improving health care access and delivery through TMH service research and evaluation...
April 2016: Journal of Child and Adolescent Psychopharmacology
Sean P David, Samuel G Johnson, Adam C Berger, W Gregory Feero, Sharon F Terry, Larry A Green, Robert L Phillips, Geoffrey S Ginsburg
Genomic research has generated much new knowledge into mechanisms of human disease, with the potential to catalyze novel drug discovery and development, prenatal and neonatal screening, clinical pharmacogenomics, more sensitive risk prediction, and enhanced diagnostics. Genomic medicine, however, has been limited by critical evidence gaps, especially those related to clinical utility and applicability to diverse populations. Genomic medicine may have the greatest impact on health care if it is integrated into primary care, where most health care is received and where evidence supports the value of personalized medicine grounded in continuous healing relationships...
July 2015: Annals of Family Medicine
D Y F So, G A Wells, R McPherson, M Labinaz, M R Le May, C Glover, A J Dick, M Froeschl, J-F Marquis, M H Gollob, L Tran, J Bernick, B Hibbert, J D Roberts
Treatment of carriers of the CYP2C19*2 allele and ABCB1 TT genotype with clopidogrel is associated with increased ischemic complications after percutaneous coronary intervention (PCI). We sought to evaluate a pharmacogenomic strategy among patients undergoing PCI for ST-elevation myocardial infarction (STEMI), by performing a randomized trial, enrolling 102 patients. Point-of-care genetic testing for CYP2C19*2, ABCB1 TT and CYP2C19*17 was performed with carriers of either the CYP2C19*2 allele or ABCB1 TT genotype randomly assigned to a strategy of prasugrel 10 mg daily or an augmented dosing strategy of clopidogrel (150 mg daily for 6 days then 75 mg daily)...
February 2016: Pharmacogenomics Journal
Jenna M Murray, Amy Hellinger, Roger Dionne, Loren Brown, Rosemary Galvin, Suzanne Griggs, Karen Mittler, Kathy Harney, Shannon Manzi, Christina VanderPluym, Annette Baker, Patricia O'Brien, Cheryl O'Connell, Christopher S Almond
Congenital heart disease is the leading cause of stroke in children. Warfarin therapy can be difficult to manage safely in this population because of its narrow therapeutic index, multiple drug and dietary interactions, small patient size, high-risk cardiac indications, and lack of data to support anticoagulation recommendations. We sought to describe our institution's effort to develop a dedicated cardiac anticoagulation service to address the special needs of this population and to review the literature. In 2009, in response to Joint Commission National Patient Safety Goals for Anticoagulation, Boston Children's Hospital created a dedicated pediatric Cardiac Anticoagulation Monitoring Program (CAMP)...
April 2015: Pediatric Cardiology
Eileen O'Meara, Nicolas Thibodeau-Jarry, Anique Ducharme, Jean Lucien Rouleau
At least 1 in 5 Canadians will experience heart failure (HF) during their lifetimes, with an average 1-year mortality rate of 23.4%. Hospitalizations for HF are projected to increase 3-fold from 1996 to 2050. HF can be associated with either reduced ejection fraction (HFrEF) or preserved ejection fraction (HFpEF), with the latter becoming increasingly common. The prognosis of both groups is equally concerning, but clinical trials testing pharmacologic therapies for HFpEF have been disappointing. We briefly discuss established therapies for HF and then focus on emerging therapies, challenges, and opportunities...
December 2014: Canadian Journal of Cardiology
Anita Siu, Christine A Robinson
The incidence of neonatal abstinence syndrome (NAS) has increased dramatically during the past 15 years, likely due to an increase in antepartum maternal opiate use. Optimal care of these patients is still controversial because of the available published literature lacking sufficient sample size, placebo control, and comparative pharmacologic trials. Primary treatment for NAS consists of opioid replacement therapy with either morphine or methadone. Paregoric and tincture of opium have been abandoned because of relative safety concerns...
July 2014: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
Katherine A Johansen Taber, Barry D Dickinson
BACKGROUND: The use of pharmacogenomic testing in the clinical setting has the potential to improve the safety and effectiveness of drug therapy, yet studies have revealed that physicians lack knowledge about the topic of pharmacogenomics, and are not prepared to implement it in the clinical setting. This study further explores the pharmacogenomic knowledge deficit and educational resource needs among physicians. MATERIALS AND METHODS: Surveys of primary care physicians, cardiologists, and psychiatrists were conducted...
2014: Pharmacogenomics and Personalized Medicine
Muaed Jamal Alomar
OBJECTIVES: To discuss the effect of certain factors on the occurrence of Adverse Drug Reactions (ADRs). DATA SOURCES: A systematic review of the literature in the period between 1991 and 2012 was made based on PubMed, the Cochrane database of systematic reviews, EMBASE and IDIS. Key words used were: medication error, adverse drug reaction, iatrogenic disease factors, ambulatory care, primary health care, side effects and treatment hazards. SUMMARY: Many factors play a crucial role in the occurrence of ADRs, some of these are patient related, drug related or socially related factors...
April 2014: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
Richard S Cartabuke, Joseph D Tobias, Thomas Taghon, Julie Rice
Pharmacogenomic studies have revealed a wide variation in the metabolism of codeine to its active metabolite, morphine. A particular subset of patients, known as ultrarapid metabolizers, possesses multiple copies of the CYP2D6 gene responsible for codeine metabolism. This has been linked to serious morbidity and mortality in pediatric patients leading to considerable debate regarding the use of codeine for analgesia in the pediatric population. The current study surveyed the current practice of codeine prescription in pediatric health care providers from a single tertiary care pediatric hospital...
January 2014: Clinical Pediatrics
Noll L Campbell, Paul Dexter, Anthony J Perkins, Sujuan Gao, Lang Li, Todd C Skaar, Amie Frame, Hugh C Hendrie, Chris M Callahan, Malaz A Boustani
BACKGROUND: The class of acetylcholinesterase inhibitors (ChEI), including donepezil, rivastigmine, and galantamine, have similar efficacy profiles in patients with mild to moderate Alzheimer's disease (AD). However, few studies have evaluated adherence to these agents. We sought to prospectively capture the rates and reasons for nonadherence to ChEI and determine factors influencing tolerability and adherence. METHODS/DESIGN: We designed a pragmatic randomized clinical trial to evaluate the adherence to ChEIs among older adults with AD...
May 4, 2013: Trials
Gillian Bartlett, Jumana Antoun, Nathalie K Zgheib
Theranostics represents a broadening in the scope of personalized medicine to include companion diagnostics for health interventions ranging from drugs to vaccines, as well as individual susceptibility to disease. Surprisingly, in the course of this broadening of personalized medicine discourse, relatively little attention has been paid to primary care (as compared with tertiary healthcare settings) despite its vast patient population and being a crucial entry point to health services. Recent advances in pharmacogenomics (PGx), a classical theranostics application whereby genotyping and/or gene expression-based tests are used for targeted or optimal therapy, revealed new opportunities to characterize more precisely human genomic variation and the ways in which it contributes to person-to-person and population variations in drug response...
November 2012: Expert Review of Molecular Diagnostics
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