Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience

In recent years, the genomics community has witnessed the growth of large research biobanks, which collect DNA samples for research purposes. Depending on how and where the samples are genotyped, biobanks also offer the potential opportunity to return actionable genomic results to the clinical setting. We developed a preemptive clinical pharmacogenomic implementation initiative via a health system-wide research biobank at the University of Colorado. Here, we describe how preemptive return of clinical pharmacogenomic results via a research biobank is feasible, particularly when coupled with strong institutional support to maximize the impact and efficiency of biobank resources, a multidisciplinary implementation team, automated clinical decision support tools, and proactive strategies to engage stakeholders early in the clinical decision support tool development process.

[1]  G. Stouffer,et al.  Clinical Utility of CYP2C19 Genotyping to Guide Antiplatelet Therapy in Patients With an Acute Coronary Syndrome or Undergoing Percutaneous Coronary Intervention , 2019, Arteriosclerosis, thrombosis, and vascular biology.

[2]  Melissa A. Basford,et al.  The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future , 2013, Genetics in Medicine.

[3]  J. Mega,et al.  Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update , 2013, Clinical pharmacology and therapeutics.

[4]  Douglas S. Bell,et al.  Interface design principles for usable decision support: A targeted review of best practices for clinical prescribing interventions , 2012, J. Biomed. Informatics.

[5]  David W. Bates,et al.  Synthesis of Research Paper: Ten Commandments for Effective Clinical Decision Support: Making the Practice of Evidence-based Medicine a Reality , 2003, J. Am. Medical Informatics Assoc..

[6]  Russell E Glasgow,et al.  A practical, robust implementation and sustainability model (PRISM) for integrating research findings into practice. , 2008, Joint Commission journal on quality and patient safety.

[7]  Xiang Zhou,et al.  Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai. , 2017, Pharmacogenomics.

[8]  L. Dressler,et al.  Implementing a personalized medicine program in a community health system. , 2018, Pharmacogenomics.

[9]  Stephanie A. Bien,et al.  Genetic analyses of diverse populations improves discovery for complex traits , 2019, Nature.

[10]  E. Clayton,et al.  Operational Implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project , 2012, Clinical pharmacology and therapeutics.

[11]  M O Karlsson,et al.  Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium , 2017, Clinical pharmacology and therapeutics.

[12]  Casey Lynnette Overby,et al.  Implementation of pharmacogenetics: The University of Maryland personalized anti‐platelet pharmacogenetics program , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[13]  R. Mägi,et al.  Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions , 2018, Genetics in Medicine.

[14]  N J Cox,et al.  The 1200 Patients Project: Creating a New Medical Model System for Clinical Implementation of Pharmacogenomics , 2012, Clinical pharmacology and therapeutics.

[15]  Teri E. Klein,et al.  Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process , 2014, Current drug metabolism.

[16]  William E. Evans,et al.  Pharmacogenomics in the clinic , 2015, Nature.

[17]  Teri E Klein,et al.  Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. , 2015, Annual review of pharmacology and toxicology.

[18]  Christopher G Chute,et al.  Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. , 2014, Mayo Clinic proceedings.

[19]  Almut G Winterstein,et al.  Institutional profile: University of Florida Health Personalized Medicine Program. , 2017, Pharmacogenomics.

[20]  L. Milani,et al.  Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good , 2019, Human Genomics.

[21]  J. Pestian,et al.  Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine , 2018, Clinical pharmacology and therapeutics.

[22]  T. Klein,et al.  CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network , 2011, Clinical pharmacology and therapeutics.

[23]  Suzette J. Bielinski,et al.  Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems , 2014, Clinical pharmacology and therapeutics.

[24]  M. Relling,et al.  The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later , 2019, Clinical pharmacology and therapeutics.

[25]  Charis Eng,et al.  Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services , 2016, Pharmacotherapy.

[26]  Ching-Hon Pui,et al.  PG4KDS: A model for the clinical implementation of pre‐emptive pharmacogenetics , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[27]  Aniwaa Owusu Obeng,et al.  Clinical pharmacogenetics implementation: Approaches, successes, and challenges , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[28]  David W. Kane,et al.  Agile methods in biomedical software development: a multi-site experience report , 2006, BMC Bioinformatics.

[29]  Zachary A. Szpiech,et al.  Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome , 2017, Scientific Reports.

[30]  Michelle E Klein,et al.  Clinical Implementation of Pharmacogenomics for Personalized Precision Medicine: Barriers and Solutions. , 2017, Journal of pharmaceutical sciences.

[31]  Elske Ammenwerth,et al.  Evidence-based usability design principles for medication alerting systems , 2018, BMC Medical Informatics and Decision Making.

[32]  Marylyn D. Ritchie,et al.  Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects , 2018, Clinical pharmacology and therapeutics.

[33]  R. Glasgow,et al.  Evaluating the public health impact of health promotion interventions: the RE-AIM framework. , 1999, American journal of public health.

[34]  F. Collins,et al.  A new initiative on precision medicine. , 2015, The New England journal of medicine.

[35]  Diane Hauser,et al.  The IGNITE network: a model for genomic medicine implementation and research , 2015, BMC Medical Genomics.

[36]  Ferdinand T. Velasco,et al.  Improving Outcomes with Clinical Decision Support: An Implementer's Guide , 2012 .