GMKBClinical Pharmacology & Therapeutics – Physician responses to genomic information are vital to the success of precision medicine initiatives. We prospectively studied a pharmacogenomics implementation program for the propensity of clinicians to select antiplatelet therapy based on CYP2C19 loss-of-function (LOF) variants in stented patients.
FDA’s Draft Guidance on Laboratory-Developed Tests Increases Clinical and Economic Risk to Adoption of Pharmacogenetic Testing
The Journal of Clinical Pharmacology – The US Food and Drug Administration (FDA) notified Congress July 31, 2014,1 of its intent to regulate laboratory developed tests. These encompass thousands of clinical assays currently used in medical practice including most pharmacogenetic tests. This guidance has the potential to impact the innovation and sustainability of pharmacogenetic research and its clinical implementation.
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes
The Journal of Molecular Diagnostics – Pharmacogenetic tests are used to predict or explain an individual’s reaction to drugs by assaying for the presence or absence of known genetic polymorphisms in genes encoding drug metabolizing enzymes, drug transporters, drug receptors, or targets of drug action.
Pharmacogenomically actionable medications in a safety net health care system
Sage Open Medicine – The implementation of pharmacogenomics is increasingly relevant at the population level. Nearly 70% of Americans take at least one medication and more than 20% take five or more, with spending on medications projected to be over US$457 billion by 2019. Defined as the study of genetic variation associated with drug response, pharmacogenomics seeks to understand how genes affect the pharmacokinetics and pharmacodynamics of drugs.
The IGNITE network: a model for genomic medicine implementation and research
BMC Medical Genetics – Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility.
Clinician Perspectives on Using Pharmacogenomics in Clinical Practice
Personalized Medicine – The use of genomic variants to tailor medical therapy is becoming increasingly relevant to routine clinical practice, as medications commonly used in primary care and cardiology practice acquire new indications for pharmacogenomics testing. Advances in pharmacogenomics are marked by the expanding number of drug labels featuring pharmacogenomics guidance, pre-prescription testing endorsed by the Food and Drug Administration, and the growth of prescribing guidelines by the Clinical Pharmacogenomics Implementation Consortium (CPIC). Additionally, laboratory technologies to perform multiplexed genotyping are rapidly becoming more affordable and reliable.
A prognostic model based on readily available clinical data enriched a preemptive pharmacogenetic testing program
Journal of clinical Epidemiology – A growing body of literature relates human genetic variation to drug response. Currently, more than 100 drugs have pharmacogenomic (PGx) information that affects prescribing in Food and Drug Administration (FDA) labels. Such evidence was the impetus behind Vanderbilt University Medical Center’s Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment (PREDICT) program, a quality improvement initiative utilizing preemptive, panel-based genotyping to deliver genotype-tailored prescribing guidance at the point of care.
Hypertension pharmacogenomics: in search of personalized treatment approaches
Nature Reviews Nephrology – Cardiovascular and renal diseases are associated with many risk factors, of which hypertension is one of the most prevalent. Worldwide, blood pressure control is only achieved in ~50% of those treated for hypertension, despite the availability of a considerable number of antihypertensive drugs from different pharmacological classes. Although many reasons exist for poor blood pressure control, a likely contributor is the inability to predict to which antihypertensive drug an individual is most likely to respond.
Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting
Clinical Pharmacology & Therapeutics – This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
Integration of Genomics in Primary Care
The American Journal of Medicine – Because gene-environment interactions are dynamic, the utility of gene-based decision support varies over time. Primary care providers will serve a key role as our patients navigate these changes.