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Browsing by Author "Bell, Gillian C."
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Item Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing(Springer Nature, 2019-10) Cavallari, Larisa H.; Van Driest, Sara L.; Prows, Cynthia A.; Bishop, Jeffrey R.; Limdi, Nita A.; Pratt, Victoria M.; Ramsey, Laura B.; Smith, D. Max; Tuteja, Sony; Duong, Benjamin Q.; Hicks, J. Kevin; Lee, James C.; Obeng, Aniwaa Owusu; Beitelshees, Amber L.; Bell, Gillian C.; Blake, Kathryn; Crona, Daniel J.; Dressler, Lynn; Gregg, Ryan A.; Hines, Lindsay J.; Scott, Stuart A.; Shelton, Richard C.; Weitzel, Kristin Wiisanen; Johnson, Julie A.; Peterson, Josh F.; Empey, Philip E.; Skaar, Todd C.; Medical and Molecular Genetics, School of MedicinePURPOSE: A number of institutions have clinically implemented CYP2D6 genotyping to guide drug prescribing. We compared implementation strategies of early adopters of CYP2D6 testing, barriers faced by both early adopters and institutions in the process of implementing CYP2D6 testing, and approaches taken to overcome these barriers. METHODS: We surveyed eight early adopters of CYP2D6 genotyping and eight institutions in the process of adoption. Data were collected on testing approaches, return of results procedures, applications of genotype results, challenges faced, and lessons learned. RESULTS: Among early adopters, CYP2D6 testing was most commonly ordered to assist with opioid and antidepressant prescribing. Key differences among programs included test ordering and genotyping approaches, result reporting, and clinical decision support. However, all sites tested for copy-number variation and nine common variants, and reported results in the medical record. Most sites provided automatic consultation and had designated personnel to assist with genotype-informed therapy recommendations. Primary challenges were related to stakeholder support, CYP2D6 gene complexity, phenotype assignment, and sustainability. CONCLUSION: There are specific challenges unique to CYP2D6 testing given the complexity of the gene and its relevance to multiple medications. Consensus lessons learned may guide those interested in pursuing similar clinical pharmacogenetic programs.Item Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting(Wiley, 2016-02) Kalman, Lisa V.; Agúndez, José A.G.; Appell, Malin Lindqvist; Bell, Gillian C.; Boukouvala, Sotiria; Bruckner, Carsten; Bruford, Elspeth; Bruckner, Carsten; Caudle, Kelly; Coulthard, Sally; Daly, Ann K.; Del Tredici, Johan T.; Drozda, Katarzyna; Everts, Robin; Flockhart, David; Freimuth, Robert; Gaedigk, Andrea; Hachad, Houda; Hartshorne, Toinette; Ingelman-Sundberg, Magnus; Klein, Teri E.; Lauschke, Volker M.; Maglott, Donna R.; McLeod, Howard L.; McMillin, Gwendolyn A.; Meyer, Urs A.; Müller, Daniel J.; Nickerson, Deborah A.; Oetting, William S.; Pacanowski, Michael; Pratt, Victoria M.; Relling, Mary V.; Roberts, Ali; Rubinstein, Wendy S.; Sangkuhl, Katrin; Schwab, Matthias; Scott, Stuart A.; Sim, Sarah C.; Thirumaran, Ranjit K.; Toji, Lorraine H.; Tyndale, Rachel; van Schaik, Ron HN; Whirl-Carrillo, Michelle; Yeo, Kiang-Teck J.; Zanger, Ulrich M.; Department of Medical & Molecular Genetics, IU School of MedicineThis 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.