An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers

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Akinyemi Oni-Orisan, Sony Tuteja, Glenda Hoffecker, D Max Smith, Matteo Castrichini, Kristine R Crews, William A Murphy, Nam H K Nguyen, Yimei Huang, Christelle Lteif, Kevin A Friede, Kelan Tantisira, Folefac Aminkeng, Deepak Voora, Larisa H Cavallari, Michelle Whirl-Carrillo, Julio D Duarte, Jasmine A Luzum; Pharmacogenomics Global Research Network (PGRN) Publications Committee

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

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Jesse J Swen, Cathelijne H van der Wouden, Lisanne En Manson, Heshu Abdullah-Koolmees, Kathrin Blagec, Tanja Blagus, Stefan Böhringer, Anne Cambon-Thomsen, Erika Cecchin, Ka-Chun Cheung, Vera Hm Deneer, Mathilde Dupui, Magnus Ingelman-Sundberg, Siv Jonsson, Candace Joefield-Roka, Katja S Just, Mats O Karlsson, Lidija Konta, Rudolf Koopmann, Marjolein Kriek, Thorsten Lehr, Christina Mitropoulou, Emmanuelle Rial-Sebbag, Victoria Rollinson, Rossana Roncato, Matthias Samwald, Elke Schaeffeler, Maria Skokou, Matthias Schwab, Daniela Steinberger, Julia C Stingl, Roman Tremmel, Richard M Turner, Mandy H van Rhenen, Cristina L Dávila Fajardo, Vita Dolžan, George P Patrinos, Munir Pirmohamed, Gere Sunder-Plassmann, Giuseppe Toffoli, Henk-Jan Guchelaar; Ubiquitous Pharmacogenomics Consortium

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

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Dena R Matalon, Cinthya J Zepeda-Mendoza, Mahmoud Aarabi, Kaitlyn Brown, Stephanie M Fullerton, Shagun Kaur, Fabiola Quintero-Rivera, Matteo Vatta; ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee

Integrated multi-omics for rapid rare disease diagnosis on a national scale

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Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Christodoulou, Zornitza Stark

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

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Chad A Bousman, James M Stevenson, Laura B Ramsey, Katrin Sangkuhl, J Kevin Hicks, Jeffrey R Strawn, Ajeet B Singh, Gualberto Ruaño, Daniel J Mueller, Evangelia Eirini Tsermpini, Jacob T Brown, Gillian C Bell, J Steven Leeder, Andrea Gaedigk, Stuart A Scott, Teri E Klein, Kelly E Caudle, Jeffrey R Bishop

Clinician adherence to pharmacogenomics prescribing recommendations in clinical decision support alerts

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Jenny Q Nguyen, Kristine R Crews, Ben T Moore, Nancy M Kornegay, Donald K Baker, Murad Hasan, Patrick K Campbell, Shannon M Dean, Mary V Relling , James M Hoffman, Cyrine E Haidar

Abstract

Thoughtful integration of interruptive clinical decision support (CDS) alerts within the electronic health record is essential to guide clinicians on the application of pharmacogenomic results at point of care. St. Jude Children’s Research Hospital implemented a preemptive pharmacogenomic testing program in 2011 in a multidisciplinary effort involving extensive education to clinicians about pharmacogenomic implications. We conducted a retrospective analysis of clinicians’ adherence to 4783 pharmacogenomically guided CDS alerts that triggered for 12 genes and 60 drugs. Clinicians adhered to the therapeutic recommendations provided in 4392 alerts (92%). In our population of pediatric patients with catastrophic illnesses, the most frequently presented gene/drug CDS alerts were TPMT/NUDT15 and thiopurines (n = 3850), CYP2D6 and ondansetron (n = 667), CYP2D6 and oxycodone (n = 99), G6PD and G6PD high-risk medications (n = 51), and CYP2C19 and proton pump inhibitors (omeprazole and pantoprazole; n = 50). The high adherence rate was facilitated by our team approach to prescribing and our collaborative CDS design and delivery.

Keywords: clinical decision support; medication alert systems; pharmacogenetics; pharmacogenomics; precision medicine.