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This article 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… (More)
BACKGROUND Active clinical decision support (CDS) delivered through an electronic health record (EHR) facilitates gene-based drug prescribing and other applications of genomics to patient care. OBJECTIVE We describe the development, implementation, and evaluation of active CDS for multiple pharmacogenetic test results reported preemptively. MATERIALS… (More)
BACKGROUND Despite growing emphasis on preventive services, physicians still provide low levels of these services to their patients. Barriers to providing preventive services might be modified by more effective teaching models at the residency level. The purpose of this study was to evaluate a practice-based teaching model designed to increase resident… (More)
In this case report, we describe a refractory CMML case without eosinophilia harboring a PDGFRB rearrangement leading to a favorable response with imatinib. We believe this case demonstrates the utility of broad spectrum genomic profiling in refractory CMML cases as an opportunity to uncover additional treatment options.
BACKGROUND Pain can be a significant burden for patients with cancer and may have negative effects on their quality of life. Opioids are potent analgesics and serve as a foundation for pain management. The variation in response to opioid analgesics is well characterized and is partly due to genetic variability. METHODS We reviewed the results of clinical… (More)
PURPOSE The development and implementation of a multidisciplinary pharmacogenomics clinic within the framework of an established community-based medical genetics program are described. SUMMARY Pharmacogenomics is an important component of precision medicine that holds considerable promise for pharmacotherapy optimization. As part of the development of a… (More)