Session Abstract – PMWC 2022 Silicon Valley


Track Chairs:
Philip Empey, UPitt
Mary V. Relling, St. Jude Children’s Research Hospital
Stuart Scott, Stanford

Pharmacists have long recognized that using unique patient characteristics to guide pharmacotherapy decision-making can improve drug response and mitigate drug-associated risks. Age, weight, and dietary habits were among the first patient-specific characteristics used to individualize pharmacotherapy. As technologies advanced, analytic tools that measure surrogate markers of liver and renal function, together with drug concentrations in biological fluids, were adopted to optimize therapeutic regimens. Cutting-edge genomic technologies are now being integrated into patient care for the selection of targeted therapies and identification of those at increased risk of poor pharmacotherapy outcomes. We’re excited to bring together experts who are advancing pharmacogenomics at scale through cutting edge clinical implementation, research, and education.

  • Keynote: The Future Of PGx
    - Julie Johnson, University of Florida
  • PGx Research and Discovery
    - Estenab Burchard, UCSF
    - William Evans, St. Jude's
    - Jose Estabil, Cipherome
    - James Coons, UPMC
    - Todd Skaar, Indiana University
  • Innovative Industry Solutions
    - Jeffrey A. Shaman, Coriell Life Sciences
    - Akwasi Asabere, Helix
    - Gillian Bell, Genome Medical
    - Cindy Kosinski, 23andme
  • Key Resources for PGx
    - Kelly E. Caudle, St. Jude Children’s Research Hospital
    - Michelle Whirl-Carillo, Stanford
  • Clinical Laboratory PGx Considerations
    - Ulrich Broeckel, MCW
    - Stuart Scott, Stanford
    - Victoria Pratt, Indiana University
  • Lessons from Frontline PGx Clinical Services
    - Mark H. Dunnenberger, Northshore University HealthSystem
    - Lucas Berenbrok, UPitt
    - Sony Tuteja, UPenn
    - Burns Blaxall, The Christ Hospital Health Network
  • Translational PGx Implementation Programs
    - Philip Empey, UPitt
    - Julie A. Johnson, Uinversity of Florida
    - Mary V. Relling, St. Jude Children’s Research Hospital
    - Laura Ramsey, Cincinnati Children's Hospital
    - Nita A. Limdi, UAB

 Session Chair Profile

Ph.D., PHARM.D., Associate Professor; Director, PGx Center of Excellence, University of Pittsburgh

Biography
Dr. Philip Empey is the Associate Director of the Institute for Precision Medicine at the University of Pittsburgh and UPMC and an Associate Professor in the School of Pharmacy. He directs the Pharmacogenomics Center of Excellence and leads the PreCISE-Rx and Test2Learn teams to implement pharmacogenomics clinical, research, and educational initiatives. As a clinician-scientist, Dr. Empey conducts NIH-funded clinical and translational research aimed at understanding the mechanisms of the variability in drug response to improve medication-related outcomes in critically-ill patients.


 Session Chair Profile

PHARM.D., Endowed Chair, St. Jude Children’s Research Hospital

Biography
Dr. Relling earned her undergraduate B.S. degree from the University of Arizona College of Pharmacy and her doctoral degree from the University of Utah College of Pharmacy. She completed post-doctoral fellowships with Dr. William Evans at St. Jude and with Dr. Urs Meyer at University of Basel. She joined St. Jude as a faculty member in 1988, and was chair of the Department of Pharmaceutical Sciences from 2003-2020. She is also a professor at the University of Tennessee in the Colleges of Medicine and Pharmacy. Her primary interests are in treatment and pharmacogenetics of childhood leukemia and clinical implementation of pharmacogenetic testing. Dr. Relling is part of NIH’s Pharmacogenomics Research Network and co-founder of CPIC, the Clinical Pharmacogenetics Implementation Consortium. She has published over 400 original scientific manuscripts. She was elected to the Institute of Medicine in 2009.


 Speaker Profile

Ph.D., Professor; Laboratory Director, Stanford

Biography
Dr. Stuart A. Scott is certified by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Molecular Genetics and Clinical Cytogenetics, and his research interests include clinical genomics, pharmacogenomics, cytogenomics, long-read sequencing, and the implementation of genomic medicine. Dr. Scott is a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC), PharmGKB, ClinGen, PharmCAT, PharmVar, International Union of Basic and Clinical Pharmacology (IUPHAR), and other international genomics consortia, and has co-authored pharmacogenetic-guided practice guidelines for warfarin, clopidogrel, SSRIs, and voriconazole therapy. He has published over 120 peer-reviewed manuscripts and book chapters on clinical genomics, pharmacogenomics, and genomic medicine implementation, and is the co-editor of the 2nd edition of Pharmacogenomics: Challenges and Opportunities in Therapeutic Implementation. He currently oversees genomic test development and implementation at the Stanford Medicine Clinical Genomics Laboratory.

Talk
Clinical Pharmacogenomic Testing: Innovations in Design and Technology
This presentation will identify currently available resources to support clinical pharmacogenomic testing, with an emphasis on reviewing innovative technologies that interrogate germline variation implicated in drug response variability and evaluating best practices for implementing clinical pharmacogenomic testing.


 Speaker Profile

PHARM.D., Emeritus Faculty, St. Jude Children’s Research Hospital

Biography
Dr. Evans joined St. Jude Children’s Research Hospital in 1972, became faculty in 1976, chaired the Pharmaceutical Sciences Department from 1986-2002, served as Scientific Director & EVP from 2002-2004, and as President and CEO from 2004-2014. For the past 40 years his research has focused on the pharmacodynamics and pharmacogenomics of anticancer agents in children with acute lymphoblastic leukemia. Evans has authored over 400 scientific publications and has received several national awards for his research, the Pediatric Oncology Award from ASCO (with Mary V. Relling), the Remington Medal from APhA, the Oscar B. Hunter Award from ASCPT and the Parker Medal from ACCP. He was elected to the Institute of Medicine of the US National Academy of Sciences (now the US National Academy of Medicine) and the German National Academy of Sciences. He currently chairs the SAB of the Princess Maxima Children’s Cancer Center and serves on the Board of BioSkryb.


 Speaker Profile

Sc.M., Chief Business Officer, Cipherome

Biography
José Estabil is currently Chief Business Officer at Cipherome, a venture-backed AI/genomics company personalizing medicine to limit adverse drug reactions. José developed projects in Tokyo, Seoul and Moscow, directed MIT’s international innovation activities, and found an entrepreneurial outlet at MIT by advising the launch, scale, and exit of Arctic Sand (acq: Murata), an MIT spin-out. Before moving to Boston, José develop three award winning semiconductor diagnostics products (KLA) and ran $100M+ semiconductor businesses in Silicon Valley. He started his career at IBM labs.


 Speaker Profile

Ph.D., Professor of Medicine, Indiana University School of Medicine

Biography
Todd Skaar did his graduate work in nutrition at the University of Wisconsin, lactation physiology at the Penn State University, and a postdoc in breast cancer drug resistance at the Lombardi Cancer Center at Georgetown University. Since joining the Division of Clinical Pharmacology at the Indiana University School of Medicine, his research has focused on the discovery and implementation of genomic predictors of drug response. More specifically, his studies are focused on identifying and functionally testing genetic variants in the drug metabolism genes that are associated with clinical drug efficacy and toxicity. They also include studies to identify miRNAs that contribute to the drug-induced and developmental changes in hepatic drug metabolism. He co-leads multiple pharmacogenomics implementation clinical trials focused on identifying and overcoming the barriers to using pharmacogenomics to guide drug therapies. He is also a co-leader of the Cancer Prevention & Control Program of the Indiana University Cancer Center.


 Speaker Profile

Ph.D., MS, Chief Science Officer, Coriell Life Sciences

Biography
Leveraging extensive experience in genetics and pharmacology, Dr. Shaman is a leading expert in the rapidly evolving field of PG. Dr. Shaman plays a critical role in bridging the gap between genetic science and clinical application. This includes translating decades of cutting-edge genetic research into actionable insights on the safest and most effective medications for individuals based on their unique DNA and dozens of other factors. Driven to advance public health, he is focused on enabling the delivery of personalized medicine at scale and empowering the most precise medical care worldwide. He consults with large employers, public and private payer organizations, healthcare systems, academic institutions, and laboratories around the globe, advising them on how to eliminate trial-and-error prescribing, improve population health, and control rising healthcare costs. Dr. Shaman is dedicated to setting the industry standard and pioneering new advancements in the field.

Talk
US Healthcare is Ready for PGx + CMM
Understanding the current environment of pharmacogenomics, combined with comprehensive medication management, along with lessons from recent and ongoing real-world implementations.


 Speaker Profile

Ph.D., Head of Business Development & Strategic Partnerships, Helix

Biography
Dr. Asabere is a founding member of the Helix Business Development team and has worked across the different products and services Helix has offered over the last 6 years. He currently leads efforts to establish strategic partnerships with health systems and payer groups across the nation to implement large-scale population genomics programs. Prior to joining Helix, he was a healthcare market access consultant helping clients develop payer reimbursement strategies. Dr. Asabere was previously in academia as a visiting researcher at the Stanford University School of Medicine's Genetics Department where he studied biological differences between primates using omics technologies. He has a B.A. with honors in Biology from Knox College, and a Ph.D. and an MSc degree from Yale University.

Talk
Reducing Residual Clinical Risk in Diverse Populations


 Speaker Profile

PHARM.D., Pharmacogenomics Lead, Genome Medical

Biography
Gillian Bell is the Pharmacogenomics Service Lead at Genome Medical and Assistant Professor of Clinical Education in the Division of Practice Advancement and Clinical Education at UNC Eshelman School of Pharmacy. She completed her Pharm.D. at the University of Tennessee College of Pharmacy and 2 years of postgraduate training in pharmacy practice and clinical pharmacogenomics at the Memphis VAMC and St. Jude Children’s Research Hospital, respectively. Prior to joining Genome Medical, she was most recently the Director of Genetics and Personalized Medicine at Mission Health. In addition to her current role, she serves as a member of several national and international working groups focused on implementing pharmacogenomics in clinical care.


 Speaker Profile

Ph.D., Product Scientist, 23andMe

Biography
Cindy Kosinski is a Product Scientist at 23andMe. In this role, she envisions and develops scientifically accurate, accessible, and engaging health reports and features to help people understand and benefit from their genetic information. Before joining 23andMe, Cindy held scientist roles at genomic technology companies, including Natera and Illumina. She earned a Ph.D. in Pharmaceutical Sciences and Pharmacogenomics from the University of California, San Francisco.


 Speaker Profile

Ph.D., Pharm.D., CPIC Co-PI/Director, St. Jude Children’s Research Hospital

Biography
Dr. Caudle is the Clinical Pharmacogenetics Implementation Consortium (CPIC) Co-PI and Director. CPIC provides guidelines that enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs. To date, CPIC has published 26 gene-based clinical guidelines. In this position, Dr. Caudle oversees the CPIC guideline development process including the coordination of the guideline writing committees, the guideline evidence reviews, and the writing of the guideline manuscript and supplement. She also leads projects related to standardization of pharmacogenetic test results such as the CPIC term and CYP2D6 genotype to phenotype standardization projects. Dr. Caudle is based in the clinical pharmacogenetics group at St. Jude Children's Research Hospital. Dr. Caudle received her Pharm.D. and Ph.D. from The University of Tennessee Health Science Center and completed an ASHP-accredited PGY2 residency at Le Bonheur Children’s Research Hospital. She is also a board‐certified Pharmacotherapy Specialist.

Talk
The Clinical Pharmacogenetics Implementation Consortium (CPIC): From Evidence to Clinical Action
CPIC creates freely available, peer-reviewed, evidence-based, updatable, and detailed pharmacogenetic clinical practice guidelines. This talk will describe the process CPIC uses to evaluate evidence of pharmacogenomic associations for the interpretation of genetic test results to actionable prescribing recommendations.


 Speaker Profile

Ph.D., Director, PharmGKB, Stanford University

Biography
Dr. Whirl-Carrillo is the Director of the Pharmacogenomics Knowledgebase (PharmGKB) at Stanford University. She leads the PharmGKB team and is responsible for the development of new content, projects and features. Additionally, she holds leadership roles in multiple NIH-funded PGx projects including the Clinical Pharmacogenetic Implementation Consortium (CPIC) and the Pharmacogenomics Clinical Annotation Tool (PharmCAT). For the past 20 years, she has led pharmacogenomics (PGx) research, focusing on its application to personalized medicine and personal genomics.


 Speaker Profile

M.D., Professor, Department of Pediatrics, Medical College of Wisconsin; Founder and CEO, RPRD Diagnostics

Biography
Ulrich Broeckel, MD, is a physician-scientist with over 20 years of experience in genetics and genomics and more than 10 years of experience in clinical diagnostics. His research efforts focus on the functional analysis of genome variation and the impact on therapeutic approaches. He is an expert in translational pharmacogenomics research and is a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the NIH initiatives on clinical pharmacogenomics.

Talk
Pharmacogenetics of Cardiotoxicity: Disease Model and Clinical Testing Approaches
Cardiotoxicity emerged as a major complication for patients receiving certain chemotherapies. In this presentation we will review the current understanding on clinical testing. In addition, we will discuss approaches to elucidate underlying disease mechanisms to guide further understand the interindividual variability in response.


 Speaker Profile

Pharm.D., Director of Personalized Medicine and Pharmacogenomics, NorthShore University HealthSystem

Biography
Dr. Dunnenberger is Director of Personalized Medicine and Pharmacogenomics in the Mark R. Neaman Center for Personalized Medicine at NorthShore University HealthSystem (NorthShore), and leads the various clinical implementation projects within the Center. The goal of these projects is to improve the care and health outcomes of NorthShore University HealthSystem patients through genomics-based strategies with a focus on pharmacogenomics. He joined NorthShore in 2014. Dr. Dunnenberger has co-authored over 30 original publications, including multiple CPIC guidelines. He earned his PharmD from the University of Tennessee Health Science Center College of Pharmacy in 2012. He completed a PGY1 Pharmacy Practice Residency at Mission Hospital in Asheville, North Carolina, and a PGY2 Clinical Pharmacogenetics Residency in the Department of Pharmaceutical Sciences at St. Jude Children’s Research Hospital in Memphis, Tennessee.


 Speaker Profile

Pharm.D., Associate Professor, University of Pittsburgh School of Pharmacy

Biography
Dr. Berenbrok is a pharmacist educator and researcher in Pittsburgh, Pennsylvania. He co-led the implementation of outpatient pharmacogenomic services at UPMC. This unique service, called Primary Care Precision Medicine, provides pharmacogenetic and genetic testing to patients in local and surrounding areas. With his colleagues at the University of Pittsburgh, Berenbrok co-created Test2LearnTM, a pharmacogenomics certificate program for pharmacists.

Talk
Implementing Pharmacogenomics in Primary Care
This talk will focus on the implementation of pharmacogenomics into primary care services at a large academic health-system. Successful implementation strategies will be presented including testing, documentation, and patient care.


 Speaker Profile

PharmD, Research Assistant Professor, University of Pennsylvania Perelman School of Medicine

Biography
Dr. Tuteja is a clinical pharmacist and translational researcher with expertise in genomic, translational and implementation research. Her work focuses on 1) implementation of pharmacogenomics into clinical care to improve patient outcomes using an implementation science approach; 2) discovery of novel pharmacogenomic markers of drug response using electronic health record data (EHR) coupled with large DNA repositories; and 3) mechanistic studies in human subjects involving evoked pharmacological perturbations coupled with multi-omic data. Dr. Tuteja received her Doctor of Pharmacy degree from the University of Michigan and her Masters in Translational Research at the University of Iowa. She completed a post-doctoral fellowship in pharmacogenomics at the University of Pennsylvania. She established the first pharmacist-run pharmacogenetics clinic within Penn Medicine where she consults with patients requesting pharmacogenetic testing.

Talk
Using Implementation Science to Enhance Adoption of Pharmacogenetics
Pharmacogenetic (PGx) testing has the potential to prevent drug-related adverse events and improve patient outcomes, but the process of integrating genomic data into clinical practice has been challenging. Methods and strategies established by the discipline of implementation science can be leveraged to accelerate adoption of PGx.


 Speaker Profile

Ph.D., Executive Director, Precision Medicine, The Christ Hospital Health Network

Biography
Dr. Blaxall leads efforts to transition from reactive to proactive healthcare delivery by harnessing the power of personal diagnostic and genomic data. Using approaches ranging from cutting edge hereditary disease risk assessment, genetic counseling and testing to pharmacogenomics and genome-guided clinical care pathways, the Precision Medicine team he leads aims to provide proactive, individualized care for every patient. Dr. Blaxall holds several patents, has published nearly 100 peer-reviewed manuscripts and has received numerous local, national and international honors. He has held extensive national and international leadership positions in numerous academic and professional societies, chaired NIH peer-review panels and serves on the editorial board for numerous top professional journals. He is an elected fellow of several professional organizations (ACC, AHA, ISHR, APS) and currently serves in national leadership positions for prominent professional societies in the fields of Precision Medicine and Pharmacogenomics.

Talk
Implementing Pharmacogenomics in a Community Hospital: Lessons Learned
Non-optimized medication costs over double the expense of caring for any major disease. Comprehensive pharmacogenomics can dramatically reduce non-optimized medication and improve patient outcomes. Learn how Dr. Blaxall has implemented a broad program of comprehensive pharmacogenomics, coupled with complete EMR integration, across a health network in under two years.


 Speaker Profile

PHARM.D., Dean and Distinguished Professor, College of Pharmacy, University of Florida

Biography
An internationally-recognized leader in pharmacogenomics and genomic medicine, with over 300 peer-reviewed publications and over $50M in research funding as principal investigator. In 2015, 2016, 2017, and 2018 she was named a Clarivate Analytics Highly Cited Researcher, indicating the top 1% of most highly cited scientists globally in the previous decade. Had numerous service roles, including the NIH, FDA, CDC, American Heart Association, American College of Clinical Pharmacy (ACCP), and ASCPT. Served as President in 2016-17. Dr. Johnson received numerous awards: Elected to the National Academy of Medicine, inducted as a Fellow of the American Association for the Advancement of Science and fellowship in three other societies, recipient of Leon I Goldberg Young Investigator Award (ASCPT), Volwiler Research Achievement Award from American Association of Colleges of Pharmacy (AACP) (2007), Therapeutic Frontiers Award, Paul Parker Medal (ACCP), the ASCPT Rawls Palmer Progress in Medicine Award, the PMWC Luminary Award, among others.


 Speaker Profile

Ph.D., Co-director, Genetic Pharmacology Service; Associate Professor, Cincinnati Children’s Hospital Medical Center

Biography
Dr. Ramsey’s lab is interested in all aspects of pharmacogenetics, from basic research to implementation in patient care. Pharmacogenetics refers to the effect of a person's genetic code on their response to a medication. She study many different types of medications for many diseases. She found that pharmacogenetic variants influenced the response, toxicity and dosing of antidepressants in children, then implemented clinical decision support with dosing guidelines through Cincinnati Children’s Genetic Pharmacology Service to optimize dosing and potentially avoid side effects. Dr. Ramsey led an international group of experts in creating a consensus guideline for when to use glucarpidase. She also developed a web tool (mtxpk.org) that shows clinicians how an individual patient is predicted to eliminate methotrexate and whether they meet the indication criteria for glucarpidase. She is a recipient of the Darrell Abernethy Early Stage Investigator Award from the American Society for Clinical Pharmacology & Therapeutics (2019).

Talk
Implementing Pharmacogenetics in Pediatrics
Dr. Ramsey will discuss how the influence of pharmacogenetics changes during development, which medications with pharmacogenetic-based dosing guidelines are prescribed most often in pediatrics, and how Cincinnati Children’s Hospital Medical Center implemented pharmacogenetics in routine care.


 Speaker Profile

PHARM.D., PhD, Professor of Neurology & Epidemiology, Director Program in Translational PGx and Associate Director, Personalized Medicine Institute, UAB

Biography
Dr. Limdi started her career as a pharmacist after graduating from Samford University with a PharmD (1994). Her observations on variability of drug response fueled her interests in understanding genetic underpinnings of drug response. She continued her training obtaining her MSPH (2005) and PhD in Epidemiology (2007). As a clinical pharmacist and chronic disease epidemiologist with 20 years of experience, she brings her breath of expertise in clinical pharmacy, chronic disease epidemiology, and pharmacogenomics to lead research and implementation of genomics in clinical practice. Her efforts to recruit and engage African Americans (AA) and medically underserved patients has been vital to her contributions to understanding racial differences in drug response, identifying race-specific variants, reporting on the differential impact of gene variants and comorbidities by race. Through her work, Dr. Limdi has collaborated extensively with national/ international consortia including: the Pharmacogenomics Research Network, the Pharmacogenomics Knowledge Base, the Clinical Pharmacogenetics Implementation Committee, the Implementation of Genomics In pracTicE, the Alabama Genomic health Initiative, the Personalized Medicine Coalition, the Standardizing Laboratory Practices in Pharmacogenomics, and the Electronic Medical Records and Genomics.


 Speaker Profile

Ph.D., FACMG, Director, Pharmacogenomics and Molecular Genetics Laboratories, Indiana University School of Medicine; Professor Medical and Molecular Genetics

Biography
Dr. Pratt is a Medical and Clinical Molecular Geneticist board-certified by the American College of Medical Genetics. Dr. Pratt is the Past President of Association for Molecular Pathology. Dr. Pratt on the National Academy of Medicine’s Roundtable on Genomics and Precision Health, and the American Medical Association’s (AMA) Molecular Pathology Current Procedural Terminology (CPT) Advisory committee. Dr. Pratt has authored over 75 peer-reviewed manuscripts and book chapters. She is also an Associate Editor for the Journal of Molecular Diagnostics. Dr. Pratt graduated with a Ph.D. in Medical and Molecular Genetics from Indiana University School of Medicine, Indianapolis, IN in 1994. Her fellowship training was in Ph.D. Medical and Clinical Molecular Genetics at Henry Ford Hospital, Detroit MI.

Talk
AMP's Recommendations for Clinical Pharmacogenotyping Allele Selection
The goals of the Association for Molecular Pathology (AMP) Clinical Practice Committee’s Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays.


 Speaker Profile

M.D., M.P.H., Professor, UCSF

Biography
Dr. Burchard is a Latino physician-scientist. He initiated and now directs the largest study of asthma in minority children in the U.S. and is currently the lead PI involving a birth cohort of minority children in Puerto Rico. Dr. Burchard is the Director of the UCSF Asthma Collaboratory, a large interdisciplinary research program focusing on minority children and gene-environment interactions for asthma. Dr. Burchard’s team was the first to leverage genetic ancestry to identify novel genetic and environmental risk factors for lung disease and poor drug response among minority children with asthma. Dr. Burchard earned his MD from Stanford University School of Medicine, completed residency at the Brigham and Women's Hospital, MA and a fellowship at the University of California, San Francisco. Dr. Burchard has formal training and expertise in internal medicine, pulmonary and critical care medicine, epidemiology, molecular genetics, genetic and clinical research.

Talk
Making Precision Medicine Socially Precise
How minority children with severe asthma do not qualify for modern asthma biologic drugs because of racial variation in targeted biomarkers


 Speaker Profile

PHARM.D., Professor, University of Pittsburgh

Biography
Jim Coons is a cardiology pharmacotherapy specialist at UPMC and clinical researcher who manages the care of patients with cardiovascular diseases and conducts clinical outcomes and translational research related to this patient population. He is also a faculty member in the Department of Pharmacy and Therapeutics and the Center for Clinical Pharmaceutical Sciences at the University of Pittsburgh School of Pharmacy. He has been recognized as a Fellow of the American College of Clinical Pharmacy and the American College of Cardiology, and is a Board-Certified Cardiology Pharmacist. He has been active in clinical practice for nearly 20 years, having managed patients in multiple cardiovascular settings. He is a core part of the PreCISE-Rx and Test2Learn teams which implement clinical pharmacogenomics, research, and educational initiatives.