SNP•its Study Summaries

SNPits logoThe SNP•its editorial team monitors leading medicine, pharmacy, pharmacogenomics, and genomic medicine journals on a daily basis. We evaluate each pharmacogenomics article for clinical relevance and scientific validity. Journal articles that are most readily applicable and relevant to practicing clinicians are selected for SNP•its Study Summaries, which discuss findings and clinical implications of pharmacogenomics studies in the context of the larger evidence base. Browse our study summaries via the feed below or our topical literature digests.

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AHA 2016: UF’s Larisa Cavallari presents findings on improving cardiac outcomes with genetic testing

Nov 16th, 2016

This NIH-funded, UF-led study showed that a genetic test can significantly reduce the risk of adverse cardiac events for heart stent patients by helping identify the best antiplatelet medication for each patient.

Drug–drug and drug–gene interactions in a large population undergoing pharmacogenetic testing

Feb 28th, 2016

As pharmacogenetic data are increasingly being incorporated into the patient care decision making process, additional information is needed to inform clinician strategies and priorities. An important step in obtaining these […]

TPMT genotyping: Decreased hematologic adverse events in IBD

Feb 1st, 2016

Daniel Beylik, Pharm.D. Candidate, Class of 2016 Thiopurine agents such as 6-mercaptopurine or azathioprine are used in patients with inflammatory bowel disease (IBD) as well as some pediatric cancers (i.e., […]

American College of Medical Genetics revises position statement on direct-to-consumer genetic testing

Jan 15th, 2016

In response to increasing availability of genetic testing opportunities and consumer demand, the American College of Medical Genetics (ACMG) has updated its 2008 position statement on direct-to-consumer genetic testing. In […]

Clopidogrel: Effect of esomeprazole on platelet activity, clinical outcomes

Jan 15th, 2016

Daryl Nnani, PharmD Candidate 2016 Albany College of Pharmacy and Health Sciences Dual antiplatelet therapy with aspirin and clopidogrel is indicated for the prevention of atherothrombotic events in patients with […]

Celecoxib: CYP2C9 variability influences colorectal adenoma prevention

Jan 4th, 2016

Daniel Beylik, Pharm.D. Candidate, Class of 2016 Celecoxib is a selective COX-2 NSAID. This agent has a potentially lower incidence of gastrointestinal adverse effects as compared with nonselective COX-2 inhibitors, […]

Informatics: Variability in EHR display of genomic data influences clinical use

Jul 17th, 2015

Dyson Wake, PharmD As precision medicine advances and increasing amounts of genomic and genetic data are incorporated into the electronic health record (EHR), needs for storing, accessing, and displaying this […]

CPIC authors respond to CYP2D6–codeine clinical perspective article

Jun 1st, 2015

The Clinical Pharmacogenetics Implementation Consortium (CPIC) published guidelines for use of codeine in patients with variable CYP2D6 metabolism in January 2014. These guidelines recommended a codeine alternative in CYP2D6 ultrarapid […]

New Lancet analysis supports benefit of pharmacogenomic testing for warfarin

May 15th, 2015

CYP2C9 and VKORC1 genotypes identified individuals who required lower doses of warfarin and were more likely to be over-anticoagulated, according to a recent analysis of the ENGAGE AF–TIMI 48 trial […]

ASHP releases statement on pharmacist’s role in clinical pharmacogenomics

Apr 1st, 2015

The American Society of Health System Pharmacists (ASHP) published a position statement on the pharmacist’s role in clinical pharmacogenomics in the April 2015 edition of the American Journal of Health-System […]

Case report: Tramadol-associated respiratory depression in CYP2D6 ultrarapid metabolizer

Mar 1st, 2015

Tramadol is metabolized through numerous pathways, including oxidation by the CYP2D6 enzyme to O-desmethyltramadol, which is primarily responsible for its analgesic effects. Although it has been documented that CYP2D6 genetic […]

JAMA: Vincristine peripheral neuropathy linked to CEP72 variability

Feb 25th, 2015

Vincristine is a widely used cytotoxic agent for cancer treatment in adults and children. A significant portion of patients treated with vincristine experience dose-limiting neuropathies including pain, sensory, and motor […]

New antifungal guidelines highlight CYP2C19 testing for voriconazole

Jan 15th, 2015

Voriconazole is an azole antifungal used to treat serious fungal infections. It is metabolized primarily by the CYP2C19 enzyme and genetic polymorphisms in the CYP2C19 gene account for a large portion […]

Warfarin: Inclusion of genotypes important for African Americans leads to better dose prediction

Dec 15th, 2014

Warfarin is used widely to prevent thromboembolic events. Numerous studies have demonstrated that CYP2C9 and VKORC1 genotypes influence warfarin dosage requirements. However, the Clarification of Optimal Anticoagulation through Genetics (COAG) […]

DPYD and 5-fluorouracil toxicity: Results of largest study to date support association

Dec 1st, 2014

Use of the antimetabolite 5-fluorouracil (5–FU) is associated with variability in both efficacy and toxicity. Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting catabolic enzyme for 5–FU and eliminates approximately 85% of […]

Clinical use of CYP2D6–codeine guidelines

Nov 15th, 2014

The analgesic properties of codeine result from its activation by the CYP2D6 enzyme to morphine, which has 200-fold greater affinity for opioid receptors. The metabolism and activity of some other […]

Escitalopram, citalopram: Are higher doses needed in CYP2C19 ultrarapid metabolizers?

Oct 31st, 2014

Miguel Ramos, PharmD Citalopram and escitalopram are selective serotonin reuptake inhibitors commonly used to treat depression, anxiety, and related disorders. Both agents are metabolized primarily by CYP2C19, a polymorphic enzyme […]

Limitations of pharmacogenomic data in FDA-approved drug labels

Oct 15th, 2014

Pharmacogenomic biomarker information is included in Food and Drug Administration (FDA)-approved product labeling, or prescribing information, for over 100 drugs. This information may be used to support the clinical use […]

Pharmacists play key roles in clinical pharmacogenomics

Sep 30th, 2014

The role of the pharmacist in implementing pharmacogenomic data into clinical care is increasingly being recognized. Pharmacists are uniquely qualified to provide input and leadership in this area due to […]

New meta-analysis shows 50 percent decrease in serious bleeding with genotype-guided warfarin

Sep 15th, 2014

Warfarin is used widely to prevent thromboembolic events. Although genetic variability in CYP2C9 and VKORC1 have been shown to influence warfarin dosage requirements, studies investigating the impact of this variability […]

Clopidogrel in CYP2C19 poor metabolizers: Four-fold dose increase may be needed

Aug 31st, 2014

Clopidogrel is an antiplatelet agent that is bioactivated through a two-step process involving the polymorphic CYP2C19 enzyme. CYP2C19 genotype can be used to predict clopidogrel response, particularly in patients undergoing […]

CYP2D6 drug interactions and response to hydrocodone, ondansetron

Aug 24th, 2014

Joseph Ladd, University of Florida College of Pharmacy 2015 PharmD Candidate The CYP2D6 enzyme is involved in the metabolism of roughly 25% of all medications, including codeine, hydrocodone, oxycodone, and […]

New position statements give guidance on personalized medicine in cardiology, oncology

Aug 15th, 2014

Two recently published position papers from the European Society of Cardiology (ESC) and the European Society for Medical Oncology (ESMO) summarized the current state of personalized medicine, future challenges, and […]

Bridging the pharmacogenomics knowledge gap: Study reveals current needs, strategies

Jul 30th, 2014

Teresa Vo, PharmD According to a recent survey of primary care physicians, cardiologists, and psychiatrists, nearly 20% of respondents reported ordering a pharmacogenetic test in the previous year. Respondents expressed […]

Updated SLCO1B1–simvastatin guideline provides resources to support clinical implementation

Jul 25th, 2014

Nathan Seligson (University of South Florida College of Pharmacy PharmD Candidate, Class of 2015) An updated Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 (alternative names include OATP1B1, OATP-C) and […]

Meta-analysis of genotype-guided warfarin trials yields disappointing results

Jun 30th, 2014

A meta-analysis of randomized clinical trials found that genotype-guided dosing of warfarin, acenocoumarol, or phenprocoumon did not result in a greater percentage of patients with international normalized ratio (INR) in […]

CYP2C19 genotype variability: Effects on voriconazole and metabolite levels

Jun 15th, 2014

Teresa Vo, PharmD, 2013-2014 PGY2 Resident in Personalized Medicine In a prospective evaluation of 95 patients treated with voriconazole (Vfend—Pfizer) over a 2-year period, CYP2C19 and CYP2C9 genotypes were not […]

Clopidogrel: CYP2C19, CYP1A2 effects in some post-MI patients

Jun 1st, 2014

Daniel Zambrano (University of Florida College of Pharmacy PharmD Candidate, Class of 2015)   A recent large study showed associations between both loss-of-function and gain-of-function CYP polymorphisms and poor outcomes […]

Drug interactions, pharmacogenetics influence codeine, morphine levels

May 28th, 2014

Ben Kong, PharmD   In an analysis of codeine-related deaths, drug interactions and genetic polymorphisms were significantly associated with changes in post-mortem morphine-to-codeine ratios. Specifically, genetic variability in ABCB1, but […]

Preemptive genotyping: More than 90% of patients have actionable result

May 15th, 2014

Out of approximately 10,000 patients genotyped in the Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment (PREDICT) program at Vanderbilt University Medical Center, 91% had at least one actionable […]

CYP2D6 and CYP2C19 variability: Increased antidepressant trials, side effects?

May 7th, 2014

In a retrospective analysis of individuals with obsessive-compulsive disorder (OCD) previously treated with multiple trials of antidepressants, neither CYP2D6 nor CYP2C19 metabolism status was associated with overall differences in duration […]

Irinotecan ADRs predicted by UGT1A1*28 polymorphisms

May 1st, 2014

A recent meta-analysis revealed up to a 4-fold increase in the risk of neutropenia in patients with a polymorphisms in the UGT1A1 enzyme who were treated with irinotecan (Camptosar, Pfizer), […]

Factors influencing physician adoption of genome-guided prescribing

Mar 24th, 2014

According to a survey administered to 101 internal medicine physicians practicing in an academic medical center, few clinicians are aware of genome-guided prescribing practices, although the majority of respondents felt […]

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