Previously Featured Articles

Previously Featured Articles

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenomic Implementations Across Diverse Healthcare Systems

Authors of this article, including our own Drs. Ratain and O'Donnell, discuss pharmacogenomic implementation metrics across eight US healthcare systems. Solutions used to overcome barriers also are discussed, along with scientific, educational, financial, and informatics-related outcomes. 

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Pharmacogenomics-Based Point-of-Care Clinical Decision Support Significantly Alters Drug Prescribing

This article, authored by members of the Center for Personalized Therapeutics, studied medication changes and physician decision-making for patients who underwent broad, preemptive pharmacogenomic testing and had results available at the point-of-care. The authors found that medications with high-risk or cautionary pharmacogenomic alerts were changed significantly more often than prescription drugs with no pharmacogenomic information available. Additionally, no pharmacogenomically high-risk medications were prescribed during the study period when providers accessed the pharmacogenomic test results. These findings demonstrate that enhanced prescription decision-making is achievable through the integration of genomic medicine. 

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Assessment of patient perceptions of genomic testing to inform pharmacogenomic implementation

This article details the results of two focus groups conducted by members of the Center for Personalized Therapeutics. One focus group included patients who previously underwent broad, pharmacogenomic testing with results available to physicians (PGx group), while the other group had not been offered genotyping (traditional care group). Overall, both groups agreed that pharmacogenomics has the potential to inform prescribing but had concerns about employment discrimination and insurance coverage as a result of PGx test results. Those in the PGx group were more receptive to the use of PGx information, while those in the traditional care group were more skeptical about how results might be used. Notably, case scenarios revealed a desire for physicians to engage patients when using PGx information in practice. 

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Patient perceptions of care as influenced by a large institutional pharmacogenomic implementation program

This article, authored by members of the Center for Personalized Therapeutics, studied patient survey responses after clinic visits at which preemptive PGx results were available to providers. Specifically, Trust, Privacy, Empathy, Medical Decision-Making (MDM), and Personalized Care (PC) dimensions were assessed. When providers accessed PGx information, Privacy, Empathy, MDM and PC scores were significantly higher compared to visits where providers did not access such information. Additionally, when providers used PGx to guide medication decisions, PC scores were significantly higher compared to prescribing visits without genomic guidance. 

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Pharmacogenomics: The Best Bet for Precision Medicine

This article, published in a recent issue of Chicago Medicine Magazine, discusses PGx as it's being used in the Chicago area. The article features NorthShore psychiatrist, Dr. Straus, University of Chicago cardiologist, Dr. Sorrentino, and our own Dr. O'Donnell. The docs share their experiences with using PGx, with Dr. Sorrentino detailing his involvement in the 1200 Patients Project. 

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Getting Pharmacogenomics Into the Clinic

This article, featuring quotes from our own Dr. O'Donnell, gives a background of pharmacogenomics and makes a case for its use in the clinic. Importantly, the author highlights the barriers to PGx adoption using input from experts in the field. 

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Evaluation of a pharmacogenetic educational toolkit for community pharmacists

The authors of this article set out to assess the usefulness of four resources intended to assist pharmacists in providing pharmacogenetic testing to their patients. A cohort of 380 community pharmacists evaluated the PGx "toolkit". Though 84% of respondents have never used PGx testing in practice, more than 75% reported that they would use the toolkit to incorporate such testing into their clinical routine. As open-text comments described a need for more patient-friendly language, the authors stated their next step will be to revise and reassess the toolkit.

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CYP2C8 and SLCO1B1 variants and therapeutic response to thiazolidinediones in patients with type 2 diabetes

In this paper, the authors assessed whether or not variants in the metabolic pathways of rosiglitazone and pioglitazone are associated with therapeutic response, defined as reduction in HbA1c. Their results showed that both the CYP2C8*3 and SLCO1B1 521T>C variants were independently associated with response to rosiglitazone, but not pioglitazone. Additionally, when considering both genotypes together, the authors found a more significant association with rosiglitazone response, suggesting the importance of studying transporter and metabolizing genes in combination.

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Variation in the glu​cose transporter gene SLC2A2 is associated with glycemic response to metformin

Using a large cohort of 13,123 participants, the authors of this article conducted a genome-wide association study (GWAS) to assess the relationship between genetic variation and glycemic response to metformin. A SNP in the SLC2A2 gene, rs8192675, was found to be significantly associated with a greater metformin-induced reduction in HbA1c. As further support, the authors report that rs8192675 was the top cis-eQTL in an analysis of 1,226 human liver samples, suggesting a functional role for the SNP. 

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Disease-drug database for pharmacogenomic-based prescribing

This article, written by members of the Center for Personalized Therapeutics, describes a novel disease-drug association tool that enables pharmacogenomic-based prescribing. When this tool was applied to a cohort of over 1,000 patients, 90% of the top 20 diseases in this population and over 93% of the patients could be appropriately treated with at least one medication with actionable pharmacogenomic information. 

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Prediction of CYP2D6 phenotype from genotype across world populations

In this article, the authors used CYP2D6 allele frequencies of various world populations that were compiled for CPIC guidelines to predict CYP2D6 phenotype status. The results show that phenotype status, based on activity score, varies considerably across the world populations included in the analyses. Importantly, challenges of phenotype prediction from genotype data are highlighted. 

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Cost-effectiveness of pharmacogenetic-guided dosing of warfarin the United Kingdom and Sweden

In this article, data from the EU-PACT trial were used to assess cost-effectiveness of PGx-guided warfarin dosing. Specifically, the authors modeled incremental costs per quality-adjusted life-year gained by genotype-guided dosing versus standard treatment. Their results suggest the use of PGx when dosing warfarin is a cost-effective strategy that can improve outcomes of patients with atrial fibrillation in the United Kingdom and Sweden. 

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Could microRNA polymorphisms influence warfarin dosing? A pharmacogenetic study on mir133 genes

The authors of this article attempt to explain part of the variability of warfarin dosing by studying SNPs in genes that code for microRNAs. Specifically, they focus on mir133 genes, which code for a microRNA that regulates the expression of VKORC1. Analyses are conducted that focus on the correlation between the mir133 SNPs of interest and mean weekly warfarin dose. The contribution of these SNPs to warfarin dosing variability is also explored in the context of other SNPs whose relationships with warfarin dosing are well-known. 

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How common are drug and gene interactions? Prevalence in a sample of 1143 patients with CYP2C9, CYP2C19, and CYP2D6 genotyping

While drug-drug interactions (DDIs) are widely recognized as major causes of adverse drug reactions, this paper makes a case for the importance of other interactions, namely drug-gene interactions (DGIs) and drug-drug-gene interactions (DDGIs). The pilot study conducted by the authors investigates the frequency of DDIs, DGIs, and DDGIs in a cohort genotyped for major drug metabolism genes. 

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Analysis of DNA methylation landscape reveals the roles of DNA methylation in the regulation of drug metabolizing enzymes

This paper aims to uncover the mechanisms underlying the great variability in expression and activity of drug metabolizing enzymes (DMEs). Specifically, the authors evaluate the significance of DNA methylation in the regulation of DME genes using a genome-wide integrative analysis.

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Drug-Drug Interactions Based on Pharmacogenetic Profile between Highly Active Antiretroviral Therapy and Antiblastic Chemotherapy in Cancer Patients with HIV Infection

Learn more about how pharmacogenomics can guide healthcare providers in choosing therapies for cancer patients who have HIV infections. In addition to discussing how pharmacogenomics can help determine therapy options that are least likely to cause adverse drug effects for highly active antiretroviral therapy (HAART) and chemotherapy, this review also describes possible drug-drug interactions between HAART and chemotherapy. 

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Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study

This study looked to find genetic association with response to lithium in patients with bipolar disorder. By taking a genome-wide approach, the investigators discovered an association between four Single Nucleotide Polymorphisms (rs79663003, rs78015114, rs74795342, and rs75222709) and a greater response to lithium therapy. 

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Pharmacogenomics in the pocket of every patient? A prototype based on quick response codes. 

In 2012, programmers at the Medical University of Vienna developed a pharmacogenomic implementation system where QR codes link patients and providers directly to portals with personalized pharmacogenomic results. In this system, patients themselves carry around the cards with links to pharmacogenomic information, giving them the ownership and responsibility to share results with their healthcare providers. 

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CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease

This study analyzed low target mean arterial pressure (MAP) with amlodipine treatment in 149 African-American patients with hypertensive kidney disease. The analysis found an association between a CYP3A4 AA genotype and a reduced likelihood of reaching low target mean arterial pressure. 

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Whole-genome association analysis of treatment response in obsessive-compulsive disorder

This study takes a genome-wide approach to discover genetic variants associated with response to Selective Serotonin Reuptake Inhibitors (SSRIs). According to this publication, up to 30% of patients with obsessive-compulsive disorder do not respond to SSRI therapy. This study followed 804 patients with obsessive-compulsive disorder and found an association between six variants and response to citalopram. 

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Genetic Polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy

This publication examines the relationship between several genes and the risk of developing ovarian cancer as well as response to paclitaxel/cisplatin chemotherapy treatment. The results showed an association between two polymorphisms in the ABCG2 and ATM genes and progression-free survival in ovarian cancer patients treated with a combination of paclitaxel and carboplatin. Additionally, polymorphisms in the ABCB1, ATM, and ATP7B genes were associated with an increased risk of developing ovarian cancer. 

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Attitudes of clinicians following large-scale pharmacogenomics implementation

Researchers of Vanderbilt's PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment) study surveyed clinicians about their opinions regarding implementation of pharmacogenomic information. Based on survey results, the clinicians agreed that pharmacogenomic information is useful in making prescribing decisions, but were unsure of how to assign responsibility for acting on pharmacogenomic test results. 

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Upfront Genotyping of DPYD*2A to Individualize Fluoropyrimidine Therapy: A Safety and Cost Analysis

Learn more about how DPYD*2A genotyping can reduce the amount of adverse drug reactions and fatality in patients treated with Fluoropyrimidine, a common chemotherapy drug. Also discover how the cost of genotyping is balanced out by the reduction of adverse event treatment, making preemptive genotyping both life-saving and cost effective. 

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The Outlier in All of Us: Why Implementing Pharmacogenomics Could Matter For Everyone

Read a recent publication from our center describing why pharmacogenomics could impact all of us. 

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Influence of Absorption, Distribution, Metabolism, and Excretion Genomic Variants on Tacrolimus/Sirolimus Blood Levels and Graft-versus-Host Disease after Allogeneic Hematopoietic Cell Transplantation

This study focuses on the influence of variants in known pharmacogenomic genes on the pharmacokinetics, efficacy, and toxicities of tacrolimus and sirolimus in patients who underwent allogeneic hematopoietic cell transplantation.

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Genome-wide single-nucleotide polymorphism analysis revealed SUFU suppression of acute graft-versus-host disease through downregulation of HLA-DR expression in recipient dendritic cells

This article analyzes the association between single nucleotide polymorphisms in the SUFU gene and prevalence of acute graft-versus-host disease in pediatric patients. Additionally, this study explores the possible biological reasons behind the discovered associations. 

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Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studies

This article studies polymorphisms associated with Adverse Drug Reactions (ADRs) such as Stevens-Johnson Syndrome and drug-induced liver injury. The authors take an unbiased approach by using a Genome-Wide Association Study of healthy individuals from different regions of Japan. 

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The Role of Abcb5 Alleles in Susceptibility to Haloperidol-Induced Toxicity in Mice and Humans

This publication studies the relationship between polymorphisms in the Abcb5 gene and likelihood of developing toxicities from taking the antipsychotic Haloperidol. The study reports basic science results in mice and translational results in humans. 

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Consistency of drug-drug and gene-drug interaction information in US FDA-approved drug labels

Learn more about how pharmacogenomic gene-drug interactions affect drug-drug interactions and how these relationships may impact current clinical practice. 

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Poor warfarin dose prediction with pharmacogenetic algorithms that exclude genotypes important for African Americans

Insights into current and potential pharmacogenomic-based warfarin dosing algorithms that consider genetic variants characteristic of African Americans.


Pharmacogenomics and cardiology: improving treatment with current drugs

An introduction to the use of pharmacogenomics in cardiology presented by Dr. Matthew Sorrentino and Dr. Peter O'Donnell, both physicians at the University of Chicago. 


Gene expression analysis in RA: towards personalized medicine

Development and use of active clinical decision support for preemptive pharmacogenomics

The Utility of Integrated Pharmacogenomic Testing to Support the Treatment of Major Depressive Disorder

A Pharmacogenomic vs. a Clinical Algorithm for Warfarin Dosing

Pharmacogenomics and cardiovascular disease

Genomics and Drug Response

Implementation of Pharmacogenetics in Clinical Practice is Challenging

Systems pharmacology, pharmacogenetics, and clinical trial design in network medicine