Institutional Profile: Translational Pharmacogenomics at the Icahn School of Medicine at Mount Sinai

Scott, Stuart A.; Obeng, Aniwaa Owusu; Botton, Mariana Rodrigues; Yao, Yang; Scott, Erick R.; Ellis, Stephen B.; Wallsten, Richard; Kaszemacher, Tom; Zhou, Xiang; Chen, Rong; Nicoletti, Paola; Naik, Hetanshi; Kenny, Eimear E.; Vega, Aida; Waite, Eva; Diaz, George A.; Dudley, Joel T.; Halperin, Jonathan L.; Edelmann, Lisa; Kasarskis, Andrew; Hulot, Jean‐Sébastien; Peter, Inga; Böttinger, Erwin P.; Hirschhorn, Kurt; Sklar, Pamela; Cho, Judy H.; Desnick, Robert J.; Schadt, Eric E.

doi:10.2217/pgs-2017-0137

Cited by 20 publications

(14 citation statements)

References 33 publications

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“…31 Finalyear students who were enrolled in pharmacogenomics APPE rotations were more likely to be prepared to apply pharmacogenomics knowledge in practice than those from the other training methods ( Figure 2). To the best of our knowledge, there are 2 pharmacogenomics APPE rotation opportunities in the New York/New Jersey region-Mount Sinai 32 and Touro College of Pharmacy-and a handful of others across the country with very limited openings for students annually. Mount Sinai offers an elective rotation to final-year student pharmacists from 2 New York schools as well as postgraduate year 1 (PGY1) and postgraduate year 1 (PGY2) pharmacy residents in the Mount Sinai Health System.…”

Section: Discussionmentioning

confidence: 99%

“…School leaderships should make every effort to hire newly trained pharmacogenomics experts into positions that provide both the didactic and the experiential examples for students. Although establishing a specialty pharmacogenomics residency is not feasible at most institutions, partnering with health systems that are implementing pharmacogenomics 32,34,35 and assigning faculty liaisons and/or designing student rotation opportunities may be possible and should be considered. Furthermore, the strength of the relationship observed between the exposure to pharmacogenomics content and perceived readiness to apply in practice may be limited by the subjective nature of the survey.…”

Section: Discussionmentioning

confidence: 99%

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Pharmacy students’ attitudes and perceptions toward pharmacogenomics education

Coriolan

Arikawe

Moscati

et al. 2019

American Journal of Health-System Pharmacy

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Purpose To evaluate final-year pharmacy students’ perceptions toward pharmacogenomics education, their attitudes on its clinical relevance, and their readiness to use such knowledge in practice. Methods A 19-question survey was developed and modified from prior studies and was pretested on a small group of pharmacogenomics faculty and pharmacy students. The final survey was administered to 978 final-year pharmacy students in 8 school/colleges of pharmacy in New York and New Jersey between January and May 2017. The survey targeted 3 main themes: perceptions toward pharmacogenomics education, attitudes toward the clinical relevance of this education, and the students’ readiness to use knowledge of pharmacogenomics in practice. Results With a 35% response rate, the majority (81%) of the 339 student participants believed that pharmacogenomics was a useful clinical tool for pharmacists, yet only 40% felt that it had been a relevant part of their training. Almost half (46%) received only 1–3 lectures on pharmacogenomics and the majority were not ready to use it in practice. Survey results pointed toward practice-based trainings such as pharmacogenomics rotations as the most helpful in preparing students for practice. Conclusions Final-year student pharmacists reported varying exposure to pharmacogenomics content in their pharmacy training and had positive attitudes toward the clinical relevance of the discipline, yet they expressed low confidence in their readiness to use this information in practice.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pharmacy students’ attitudes and perceptions toward pharmacogenomics education

Coriolan

Arikawe

Moscati

et al. 2019

American Journal of Health-System Pharmacy

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“…The increasing enthusiasm for implementing pharmacogenetics into clinical practice, coupled with ongoing international research and clinical programs dedicated to pharmacogenetic discovery and implementation, 41 prompted our development and analytical validation of a 29 gene pharmacogenetic testing panel. Our panel is centered on multiplexed targeted genotyping, but also incorporates independent UGT1A1*28 dinucleotide repeat genotyping and copy number interrogation of specific genes and loci.…”

Section: Discussionmentioning

confidence: 99%

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection

Scott

Seki

et al. 2020

Clinical Translational Sci

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To develop a novel pharmacogenetic genotyping panel, a multidisciplinary team evaluated available evidence and selected 29 genes implicated in interindividual drug response variability, including 130 sequence variants and additional copy number variants (CNVs). Of the 29 genes, 11 had guidelines published by the Clinical Pharmacogenetics Implementation Consortium. Targeted genotyping and CNV interrogation were accomplished by multiplex single‐base extension using the MassARRAY platform (Agena Biosciences) and multiplex ligation‐dependent probe amplification (MRC Holland), respectively. Analytical validation of the panel was accomplished by a strategic combination of > 500 independent tests performed on 170 unique reference material DNA samples, which included sequence variant and CNV accuracy, reproducibility, and specimen (blood, saliva, and buccal swab) controls. Among the accuracy controls were 32 samples from the 1000 Genomes Project that were selected based on their enrichment of sequence variants included in the pharmacogenetic panel (VarCover.org). Coupled with publicly available samples from the Genetic Testing Reference Materials Coordination Program (GeT‐RM), accuracy validation material was available for the majority (77%) of interrogated sequence variants (100% with average allele frequencies > 0.1%), as well as additional structural alleles with unique copy number signatures (e.g., CYP2D6*5 , *13 , *36 , *68 ; CYP2B6*29 ; and CYP2C19*36 ). Accuracy and reproducibility for both genotyping and copy number were > 99.9%, indicating that the optimized panel platforms were precise and robust. Importantly, multi‐ethnic allele frequencies of the interrogated variants indicate that the vast majority of the general population carries at least one of these clinically relevant pharmacogenetic variants, supporting the implementation of this panel for pharmacogenetic research and/or clinical implementation programs.

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“…Clinical decision support systems for medication optimization may significantly improve clinical outcomes 21 and reduce medical errors 22 . Provider 23 and patient education 24 on use of pharmacogenomic testing via interactive apps coupled with pharmacogenomic support embedded into electronic medical records 25 will further facilitate patient safety, improve quality of care, clinical outcomes and patient satisfaction.…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenomic-based medication risk assessment in people with polypharmacy

Liu

Zhu

Finkelstein

2017

2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

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Medication regimen may be optimized based on individual drug efficacy identified by pharmacogenomic testing. However, majority of current pharmacogenomic decision support tools provide assessment only of single drug-gene interactions without taking into account complex drug-drug and drug-drug-gene interactions which are prevalent in people with polypharmacy and can result in adverse drug events or insufficient drug efficacy. The main objective of this project was to develop comprehensive pharmacogenomic decision support for medication risk assessment in people with polypharmacy that simultaneously accounts for multiple drug and gene effects. To achieve this goal, the project addressed two aims: (1) development of comprehensive knowledge repository of actionable pharmacogenes; (2) introduction of scoring approaches reflecting potential adverse effect risk levels of complex medication regimens accounting for pharmacogenomic polymorphisms and multiple drug metabolizing pathways. After pharmacogenomic knowledge repository was introduced, a scoring algorithm has been built and pilot-tested using a limited data set. The resulting total risk score for frequently hospitalized older adults with polypharmacy (72.04±17.84) was statistically significantly different (p<0.05) from the total risk score for older adults with polypharmacy with low hospitalization rate (8.98±2.37). An initial prototype assessment demonstrated feasibility of our approach and identified steps for improving risk scoring algorithms.

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Institutional Profile: Translational Pharmacogenomics at the Icahn School of Medicine at Mount Sinai

Cited by 20 publications

References 33 publications

Pharmacy students’ attitudes and perceptions toward pharmacogenomics education

Pharmacy students’ attitudes and perceptions toward pharmacogenomics education

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection

Pharmacogenomic-based medication risk assessment in people with polypharmacy

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