GMKBJournal of Biomedical Informatics – In this paper, we describe and evaluate three different approaches that use machine learning to build predictive models using temporal EHR data of a patient.
Effect of Genetic African Ancestry on eGFR and Kidney Disease
Journal of the American Society of Nephrology – Self-reported ancestry, genetically determined ancestry, and APOL1 polymorphisms are associated with variation in kidney function and related disease risk, but the relative importance of these factors remains unclear.
Emerging Roles for Pharmacists in Clinical Implementation of Pharmacogenomics
Pharmacotherapy – Pharmacists are uniquely qualified to play essential roles in the clinical implementation of pharmacogenomics. However, specific responsibilities and resources needed for these roles have not been defined. We describe roles for pharmacists that emerged in the clinical implementation of genotype-guided clopidogrel therapy in the University of Florida Health Personalized Medicine Program, summarize preliminary program results, and discuss education, training, and resources needed to support such programs. Planning for University of Florida Health Personalized Medicine Program began in summer 2011 under leadership of a pharmacist, with clinical launch in June 2012 of a clopidogrel-CYP2C19 pilot project aimed at tailoring antiplatelet therapies for patients undergoing percutaneous coronary intervention and stent placement.
Prerequisites to Implementing a Pharmacogenomics Program in a Large Healthcare System
Clinical Pharmacology & Therapeutics – Pharmacogenomics (PGx) technology is advancing rapidly; however, clinical adoption is lagging. The Indiana Institute of Personalized Medicine (IIPM) places a strong focus on translating PGx research into clinical practice. We will describe what have been found to be the key requirements that must be delivered in order to ensure a successful and enduring PGx implementation within a large healthcare system.
Warfarin Pharmacogenetics
Trends in Cardiovascular Medicine – Since its approval in 1954, warfarin has been widely prescribed for the prophylaxis and treatment of venous thromboembolism and complications associated with atrial fibrillation and cardiac valve replacement. Even with the availability of newer agents shown to be noninferior to warfarin, warfarin remains the most commonly prescribed oral anticoagulant.
Use of a patient-entered Family Health History Tool with Decision Support in Primary Care: Impact of Identification of Increased Risk Patients on Genetic Counseling Attendance
Journal of Genetic Counseling – Although MeTree identified a significant proportion of patients for whom GC was recommended, persistent barriers indicate the need for improved referral processes and patient and physician education about the benefits of GC.
Use of a Patient‐Entered Family Health History Tool with Decision Support in Primary Care: Impact of Identification of Increased Risk Patients on Genetic Counseling Attendance
Journal of Genetic Counseling – Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer‐based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe the impact of MeTree on genetic counseling (GC) referrals and attendance.
Meaningful Use of Pharmacogenetics
Clinical Pharmacology & Therapeutics – Although some might wish to see randomized clinical trials (RCTs) for every pharmacogenetic example, we argue that for many examples current evidence supports the implementation of preemptive genotyping to guide prescribing.
Implementation and utilization of genetic testing in personalized medicine
Pharmacogenomics Personalized Medicine – This review aims to summarize the current state of implementing genetic testing for personalized medicine, with an emphasis on clinical pharmacogenetic testing.
The influence of the CYP2C19*10 allele on clopidogrel activation and CYP2C19*2 genotyping
Pharmacogenetics & Genomics – The polymorphic hepatic enzyme CYP2C19 catalyzes the metabolism of clinically important drugs such as clopidogrel, proton-pump inhibitors, and others and clinical pharmacogenetic testing for clopidogrel is increasingly common. The CYP2C19*10 SNP is located 1 bp upstream the CYP2C19*2 SNP. Despite the low frequency of the CYP2C19*10 allele, its impact on metabolism of CYP2C19 substrates and CYP2C19*2 genotyping makes it an important SNP to consider for pharmacogenetic testing of CYP2C19. However, the effect of the CYP2C19*10 allele on clopidogrel metabolism has not been explored to date.