Last Updated 2016

Topic: Integrating Clinical Pharmacogenetics Into Primary Care: Initial Experiences from the University of Florida


Meghan Arwood, PharmD, BCPS, Clinical Assistant Professor, Department of Pharmacotherapy and Translational Research, University of Florida College of Pharmacy

Eric Dietrich, PharmD, BCPS, CPC-A, Clinical Assistant Professor, Department of Pharmacotherapy and Translational Research, University of Florida College of Pharmacy

The UF Health Personalized Medicine Program (PMP) is a multidisciplinary, pharmacist-led initiative that provides evidence-based recommendations to providers based on pharmacogenetics (PGx) test results to guide drug/dose selection. Established in 2011, the PMP has launched 6 gene-drug pair implementations across multiple practice areas in inpatient and outpatient settings. Continued growth of the PMP, along with the collaboration of physicians, pharmacists, and informaticians, has paved the way for development of a comprehensive outpatient referral-based PGx consult clinic. In fall 2017, the PMP launched the Pharmacogenetics Consult clinic at UF Health Internal Medicine-Tower Hill (IMTH), in which IMTH providers refer patients for a face-to-face consult with a PGx expert pharmacist. The pharmacist’s role is to confirm the need for PGx testing, order the appropriate PGx test(s), provide PGx-based drug therapy recommendations to the provider, and educate patients and providers on the PGx results’ implications. Through the integration of PGx into routine outpatient practice, this innovative clinic aims to improve quality of care by reducing the trial-and-error approach to prescribing, and ultimately to improve drug-related outcomes. In this webinar, we will present on the development and implementation of this pharmacogenetics consult clinic, sharing early implementation successes and challenges.

Webinar Slides: CIWG_Arwood and Dietrich_050318_final

Webinar Recording: 


Topic: Integrating genomics to guide clinical care: Laying the foundational processes through implementation of genotype-guided antiplatelet therapy

Speaker: Nita A. Limdi, Pharm.D, Ph.D, MSPH, FAHA, Professor Department of Neurology, The University of Alabama at Birmingham

PGx promises to improve patient outcomes optimizing drug therapy. Evidence that tailored genotype-guided therapy (GGTx) can improve outcomes is growing.  Despite advances in genotyping technology and decreasing costs, therapeutic use remains limited in part due to the complexity of enterprise-wide implementation of GGTx. Integration of research and implementation efforts across a seamless framework can enable learning health-care systems to realize the promise of pharmacogenomics for the individual patient and the population. The University of Alabama at Birmingham created an institutional framework for implementing genomic guided therapies. This framework can provide a valuable template for other institutions planning to implement pharmacogenomics and disease prediction/ stratification precision medicine interventions. I will present genotype-guided antiplatelet therapy as a proof-of-concept example and demonstrate that GGTx is feasible (turnaround-time 70 minutes), 30% of patients in our population possessing actionable genotype, and acceptance of alternate treatment recommendations in 70% of patients.

Webinar Slides: Informatics_Ignite_PGX_implement_March2018_rev

Webinar Recording: 

Topic: Implementation of Neuropsychiatric Pharmacogenetics at Cincinnati Children’s Hospital Medical Center: 13 years of successful personalized medicine

Speaker: Laura B. Ramsey, PhD, Assistant Professor, Pharmacy Research, Division of Research in Patient Services, Co-director, Genetic Pharmacology Service, Cincinnati Children’s Hospital Medical Center

The Division of Child and Adolescent Psychiatry at Cincinnati Children’s Hospital Medical Center is the largest pediatric psychiatric unit in the country and a leader in using pharmacogenetically-guided dosing of psychotropic medications. Pharmacogenetic testing has been included in the initial intake of over 20,000 psychiatric patients since 2004 through the Genetic Pharmacology Service (GPS). Currently, variants in two genes (CYP2D6 and CYP2C19) are tested on the Psychiatric Expanded Panel using a custom TaqMan® Low Density Array. Long PCR is used for CYP2D6 full gene deletion and duplication. Genotypes are interpreted into metabolizer phenotypes in accordance with CPIC guidelines. After implementing single gene-drug testing in July 2004, feedback from psychiatrists led us to develop our first psychiatric panel (January 2005) and the expanded psychiatry panel (September 2013). Of the 6,147 expanded panel tests run between September 2013 and June 2016, 5,030 produced phenotypes for both genes.  Reports included in the patient’s electronic medical record provide dosing recommendations (as percentage of normal dose) and drug-drug interaction alerts for 18 medications based on the metabolizer phenotypes. Clinicians use it to review dosing strategies for patients, particularly those with adverse effects or those that are treatment resistant. Another update is planned to include pharmacodynamic genotyping. An opioid panel is preemptively ordered for pectus excavatum surgery and as needed in other patients. Single gene-drug tests are also offered through the GPS. Clinical decision support alerts fire in three circumstances: to check for already available results, to order the relevant test, or to order a reinterpretation of a GPS test performed previously for a new medication. In summary, we have successfully implemented preemptive pharmacogenetic testing in a large inpatient psychiatric unit for the past 13 years, enabling physicians to adjust the dose of psychotropic medications based on CYP2D6 and CYP2C19 genotypes.

Presentation Slides: IGNITE CIWG webinar 2-1-2018

Webinar Recording: 


Topic: The All of Us Research Program Researcher Portal: Innovative access to Unprecedented Data

Speaker: Andrea H. Ramirez, M.D., Assistant Professor of Medicine, Division of Diabetes, Endocrinology, & Metabolism, Vanderbilt University Medical Center

The Precision Medicine Initiative All of Us Research Program is a national effort to recruit and engage at least one million participants who consent to provide health information (including data from health surveys, electronic health records, and baseline physical measures), biospecimens, and to be recontactable in the future. The Data and Research Center (DRC) sits at the confluence of all of these varied data and, in collaboration with the many All of Us partners, has been creating a framework to shape and support biomedical research in the future. This systems demonstration will present the Researcher Portal developed to bring diverse researchers to the data for hypothesis testing and experimentation in a cloud computing environment. The Researcher Portal integrates single authentication with access to raw data and advanced methodology including notebook based programming and statistics capability, tools to identify participants of interest within the larger group, and innovative data visualization techniques. This demonstration is a key part of efforts to engage world-class researchers including the AMIA community in testing and development of this intentionally dynamic framework.

Presentation Slides: 180104.IGNITECWIGRamirezAoU

Webinar Recording: 



Topic: Integrating sequencing and clinical informatics with DNAnexus

This will be a hybrid presentation with discussion and demonstration of the DNAnexus platform.

Speakers: Darren Ames and Maria Simbirsky, DNAnexus

Darren is a bioinformatics scientist at DNAnexus, and is embedded full-time in the Human Genome Sequencing Center at Baylor College of Medicine. His background is in plant genetics, genomics, and statistics. In his free time, he enjoys ultrarunning, painting and yoga. His favorite book is “An Inordinate Fondness for Beetles”.


Maria Simbirsky is a Bioinformatics Scientist on the DNAnexus Science team and has been with the company since 2016. She works closely with DNAnexus partners such as Pacific Biosciences, 10X Genomics, and Bionano to enable a wide variety of tools on the DNAnexus platform. She also works closely with large consortia such as the Vertebrate Genome Project and the eMERGE network to enable novel research

Presentation Slides: IGNITE_slides_public

Webinar Recording:

Topic: Systematic Risk Assessment and Clinical Decision Support with a Patient-Facing FHIR-enabled web service

Speaker: Lori A. Orlando, MD, MHS, Director of Precision Medicine Program, Center for Applied Genomics and Precision Medicine, Duke University

Initiating widespread systematic risk assessment for disease prevention and risk management in primary care is one key to promoting population health; however, there are a significant number of barriers to implementation. One is that family health history is a critical data element that is hard to capture and use effectively. The other is the complexity of risk assessment guidelines. To facilitate systematic risk assessment in primary care, we developed and tested a web-service that positioned patients as the drivers of the risk assessment process – including family health history data collection- and integrated clinical decision support for patients and providers to enhance shared decision making around risk management and disease prevention. This talk will describe our approach, the SMART-FHIR components, and some of the outcomes we’ve achieved to date.

Presentation Slides: CIIG MeTree and FHIR_LAO

Webinar Recording:

Topic: Return of Results (ROR) for Research Exomes

Speaker: Michael F. Murray, MD, Director of Clinical Genomics, Genomic Medicine Institute, Geisinger Health System

At Geisinger Dr. Mike Murray is leading the GenomeFIRST return of results program for the over 140,000 patient participants who undergo Genomic Sequencing as part of the MyCode Community Health Initiative.   This project builds on the collaboration between Geisinger and Regeneron Pharmaceuticals, but is funded outside of that research collaboration through internal Geisinger support, external grants, and generous donations.

The GenomeFIRST return of results program expects to deliver important risk information based on genetic sequence back to between 2-4% of MyCode participants in its initial phase.  These risks primarily fall into the categories of either risk for cancer or cardiovascular disease.  Geisinger is one of the first institutions in the world to build the necessary infrastructure at the scale needed to deliver this kind of genomic results to this many patients and their providers, and to then assist the patients in getting their at-risk family members tested too.  This program is expected to help define a best practice model for doing this new 21st century approach to care within healthcare systems everywhere.


Presentation Slides: MURRAY – ROR from Research Exomes Thursday 06-01-17 Full


Webinar Recording:

The May 4th, 2017 webinar has been cancelled.

Topic: Preemptive Pharmacogenetic Testing: Exploring the Knowledge and Perspectives of United States Payers

Speaker: Nicholas J. Keeling, PhD Candidate,  University of Mississippi School of Pharmacy

Preemptive pharmacogenetic testing aims to improve the safety and efficacy of medications by using genetic information to inform drug prescribing. Further investigation is needed to describe the position of the payer stakeholder on preemptive pharmacogenetics, as their coverage and reimbursement decisions will impact the adoption of this technology. This presentation will summarize a qualitative study using semi-structured, in-depth interviews to was to investigate payer’s knowledge, awareness, and perspectives on preemptive pharmacogenetic testing.

Three major themes were identified. First, payers understood the potential benefits for patients and the health system from preemptive pharmacogenetic testing, but further demonstrations of clinical utility were needed. Second, the idea of widespread testing without the ability to definitively project downstream economic benefits was a barrier to adoption. Finally, population health implications for the possibility of using pharmacogenetics as a preventive service and role of other stakeholders, such as the FDA and CMS, were mentioned frequently.

Payer’s limited exposure to preemptive pharmacogenetics and its potential benefits gave pause to rapid adoption of this approach to optimize drug therapy. Furthermore, a payer’s ability to judge the value of preemptive pharmacogenetics may be limited by their cost-benefit tradeoff determination, often made on a one-year budget cycle. The ability to enable and influence clinician prescribing based on genetic data in Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines was viewed as a valuable resource.


Presentation Slides: Preemptive pharmacogenetic testing – exploring the knowledge and perspectives of US payers – IGNITE presentation – Nicholas Keeling


Webinar Recording: