Impact of Diversity on Pediatric Pharmacogenetics: Implications for Research and Clinical Implementation

Chair(s)

• 

  Sonya Tang Girdwood, MD, PhD (she/her/hers)

  Assistant Professor of Pediatrics
  Pediatrics
  Cincinnati Children' Hospital Medical Center
  Cincinnati, Ohio, United States
• 

  Laura Ramsey, PhD (she/her/hers)

  Section Chief of Individualized Therapeutics
  Children's Mercy Kansas City, United States

Session

Description: In recent years, there has been a call to re-evaluate or eliminate race-based guidelines in the diagnosis and treatment of multiple diseases, as race is a social construct, distinct from genetic risk factors. Race-based guidelines for drug prescribing are one example of such guidelines that contribute to health inequity. Pharmacogenetic-guided dosing may provide more equitable and evidence-based therapies, as dosing of medications is based on the genotype of the enzymes or transporters that influence drug concentrations. However, there are limitations to this practice depending on which genes are tested and which alleles or variants are interrogated.

In this symposium, we will discuss problems with race-based prescribing and provide an introduction to pharmacogenetics. We will present what is known about genetic ancestry and the frequency of genetic alleles that are commonly tested in pharmacogenetic-guided dosing. We will discuss the limitations of what we know about the relationship between genetic ancestry and pharmacogenetics due to the need to increase diversity of participants in pediatric pharmacogenetics research and present current efforts to include groups who are often underrepresented in research as study participants. We will present cases in which pharmacogenetic testing led to better outcomes in pediatric kidney transplant immunosuppression and cases in which pharmacogenetic testing led to miscategorization of the metabolizer status of pediatric patients of underrepresented racial groups. Finally, we will present recommendations for both pharmacogenetic research and clinical implementation to ensure diverse pediatric populations are maximally benefiting from pharmacogenetic-guided medication dosing. The session will conclude with a Q&A session.

Presentations:

• 8:00 AM – 8:10 AM ET

  The Case for pharmacogenetics: Prescribing drugs by race is bad medicine (introduction); Q&A session (end)
  

  Speaker: Sonya C. Tang Girdwood, MD, PhD (she/her/hers) – Cincinnati Children' Hospital Medical Center
• 8:10 AM – 8:20 AM ET

  Association of genetic ancestry on pharmacogenetic allele frequency
  

  Speaker: Laura Ramsey, PhD (she/her/hers) – Children's Mercy Kansas City
• 8:20 AM – 8:30 AM ET

  Diversity of participants in pharmacogenetic research: Needs and opportunities
  

  Speaker: Sara L. Van Driest, MD, PhD (she/her/hers) – National Institutes of Health, Office of the Director
• 8:30 AM – 8:40 AM ET

  Engaging indigenous communities in pharmacogenetic research
  

  Speaker: Erica L. Woodahl, PhD (she/her/hers) – University of Montana
• 8:40 AM – 8:50 AM ET

  Genetic ancestry vs pharmacogenetics in kidney transplant
  

  Speaker: H. Rhodes R. Hambrick, MD – Cincinnati Children's Hospital Medical Center
• 8:50 AM – 9:00 AM ET

  Case studies in how lack of diverse representation in pharmacogenetic variant panels can impact test results
  

  Speaker: Tamorah Lewis, MD, PhD (she/her/hers) – University of Toronto Temerty Faculty of Medicine
• 9:00 AM – 9:10 AM ET

  A call to action for implementing pharmacogenetics in diverse populations
  

  Speaker: Kathryn E. Kyler, MD, MS – Children's Mercy Hospitals and Clinics
• 9:10 AM – 9:30 AM ET

  Q&A session
  

  Chair: Sonya C. Tang Girdwood, MD, PhD (she/her/hers) – Cincinnati Children' Hospital Medical Center