Therapeutics can be most powerful and help treat disease, or – in optimal scenarios – even provide a cure for the disease, yet not all medications work equally well for everyone. One medication that works wonders for one patient may be without any beneficial effect or may even be harmful to another patient due to severe side effects.

Dr. Mary Relling (St. Jude Children’s Research Hospital) and PMWC 2020 PGx Track chair: “Preemptive pharmacogenomics testing versus reactive genotyping is cheaper and ensures results will be available at time of prescribing decisions.”

There are many factors that influence these outcomes, among them, age, renal function, liver function, lifestyle, choice of supplements, overall health, and an individual’s genetic makeup. This should make tailoring therapeutic treatments to a patient’s genetic makeup a number one priority!

Although genomic testing is still a relatively new development in drug treatment, the field is very active and rapidly expanding. We have by now more than 385 drugs that have label information regarding pharmacogenomic biomarkers (as per Drugs@FDA) — some kind of measurable or identifiable genetic information that can be used to individualize the use of a drug. Interestingly, the biomarkers of these drugs include germline or somatic gene variants (polymorphisms, mutations), functional deficiencies with a genetic etiology, gene expression differences, and chromosomal abnormalities. Selected protein biomarkers that are used to choose specific treatments for patients are also included. And the FDA now requires pharmacogenomics data to be included in the labeling of drugs.

Pharmacogenomics is important as it can help identify responders and non-responders to a specific medication, avoid adverse events, and of course optimize drug dose. As such, there is an urgent need for clinicians and pharmacists to be knowledgeable about the basics of pharmacogenetic testing, and interpretation as well as the application of the test results.

Drug labeling information on genomic biomarkers include:
• Drug exposure and clinical response variability
• Risk for adverse events
• Genotype-specific dosing
• Mechanisms of drug action
• Polymorphic drug target and disposition genes
• Trial design features

Not too long ago “a call for increased pharmacogenomic education” was given high priority and deemed necessary to overcome some of the major challenges associated with the implementation of precision medicine, which includes lack of standardization and reimbursement concerns. Extensive expansion of pharmacogenomic education is a step toward producing knowledgeable clinicians and pharmacists who are poised to apply its methodology and translate its benefit to the clinic by being champions for patient-centered care.

And did you know The Clinical Pharmacogenetics Implementation Consortium (CPIC) writes peer-reviewed, freely-available, updatable gene/drug pair specific guidelines which help address the lack of clinical guidance on how to use genetic testing results to adjust the use or dose of medications. These guidelines accompany computationally-compatible tables, to guide prescribing based on pharmacogenetic test results. CPIC has published 23 guidelines covering 19 genes and 46 drugs across several therapeutic areas

Dr. Peter Hulick, NorthShore University HealthSystem and presenter at PMWC 2020 Silicon Valley: “The insight of pharmacogenomics and the ability to integrate that knowledge into clinical care via our EHR platform has proven to be a key component of our integrated approach and is generating significant value in patient care. NorthShore launched its Pharmacogenomics Clinic in March 2015. On average, 97% of patients receive actionable information from a pharmacogenomics gene panel (15-20 genes), and more than half have had variants in multiple pharmacogenomic related genes.”

Clearly pharmacogenomic consideration is a cornerstone of precision medicine and the use of drugs and drug combinations should be expected to be tailored to a patient’s unique genetic profile. Don’t miss out. Join PMWC 2020 Silicon Valley to learn more about recent pharmacogenomic advancements and challenges, as well as applications of pharmacogenomic testing. We have a series of sessions with speakers that are experts in the field of pharmacogenomics.

PMWC 2020 Silicon Valley sessions include:
• Precision Pharmacotherapy: introduces the concept and provides many examples of precision pharmacotherapy used in specialties such as pediatrics, psychology, cardiology, and oncology to guide choice of treatment and prescriptions; chaired by Mary Relling (St. Jude Children’s Hospital)
Talk details include
– Reversing Drug Resistance in Acute Lymphoblastic Leukemia: William Evans (St. Jude Children’s Hospital) describes recent strategies to interrogate and integrate multiple types of genetic and epigenetic variation to identify new mechanisms of drug resistance in acute lymphoblastic leukemia (ALL) and reveal novel drug combinations to mitigate resistance.
– Functional Assay Validation of Clinical Pharmacogenomic Variants: Todd Skaar (Indiana University School of Medicine) discusses multiplexed in vitro assays that can provide functional data to guide the classification of these variants.
– Elizabeth Phillips (Vanderbilt University) focuses on Using Precision Medicine to Prevent And Understand Severe Immune-Mediated Drug Reactions
– Translating Pharmacogenomic Variation to Clinical Implementation: Stuart Scott (sema4) focuses on 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 translating those test results into clinical practice.
– Schizophrenia and Folate Pharmacogenomics & Risk for Comorbidities: Vicki Ellingrod (University of Michigan College of Pharmacy) presents results from their recently completed folate trial, which found cardiovascular and cytokine improvements which varied by folate pharmacogenomics.
– Pharmacogenetics of Analgesics: Andrew Monte (University of Colorado Denver – Anschutz Medical Center) reviews the pertinent pharmacogenetics of 3 major drug classes, opioids, NSAIDs, and anesthetics.
– Implementing Pharmacogenomics at Population-Scale: Philip Empey (University of Pittsburgh) presents outcomes following CYP2C19 genotyping to guide antiplatelet medication prescribing after cardiac catheterization at Pitt/UPMC and lessons learned from similar programs nationally.
– The VA’s Pharmacogenomic Screening: Deepak Voora (Duke University) discusses the objectives of the VA Pharmacogenomics Action for Cancer Survivorship (PHASeR) program which provides pre-emptive, panel-based, pharmacogenomics screening to up to 250,000 Veterans
• PGx Policymaking in Real-Time reviews recent FDA activities and explores the significance for more substantial changes to diagnostic regulatory policy and implications for patients, providers, and diagnostic developers; chaired by Jennifer R. Leib (Innovation Policy Solutions, LLC)
– Presenters include Victoria Pratt (Indiana University School of Medicine), Jeffrey Gibbs (Hyman, Phelps & McNamara, PC), and Shawn Patrick O’Brian (Genomind)
• Drug and Disease Induced Phenoconversion covers the complexities of genotype results interpretation in clinical practice and clinical trials since phenoconversion makes it challenging to translate such information into clinically actionable recommendations; chaired by Jacques Turgeon (Tabula Rasa Healthcare)
– Presenters include Veronique Michaud (Adjunct Professor, University of Montreal) and Todd Skaar (Indiana University School of Medicine)
• Adoption of Molecular Profiling in the Clinical Setting with a panel discussion that includes leaders representing diverse medical organizations describing their approaches and strategies of implementing molecular profiling in order to meet their internal patient and organizational goals; chaired by Anne-Renee Hartman (Biotech Executive & Advisor)
– Panelists include Cassie Hajek (Sanford Imagenetics & University of South Dakota), Joshua Schiffman (U Health University of Utah) and Peter Hulick (Northshore University HealthSystem)

Register Today for participation in PMWC January 21-24, 2020 so you don’t miss out on a unique opportunity in this critical time of rapid developments in the field of Precision Medicine to learn from the thought leaders and key stakeholders in the industry how advancements in areas such as pharmacogenomics are shaping the future of patient care. Sign up today to secure your spot in this important scientific gathering and be part of the dialogue to include your ideas and learn from others as we lay the groundwork for tomorrow’s healthcare.

I am looking forward to welcoming you in 5 weeks in Santa Clara.