Q&A with Mary Relling, St. Jude Children’s Research Hospital, Chair of the Precision Pharmacotherapy

Mary has been a pioneer in both the science and clinical application of pharmacogenomics. Her research has resulted in seminal laboratory discoveries that unraveled the mechanisms of leukemogenesis and drug resistance; the identification of novel therapeutic targets, and the integration of biologic, genomic, and pharmacologic discoveries into comprehensive clinical protocols, leading to a markedly improved cure rate for children with acute lymphoblastic leukemia. She has led the implementation of clinical protocols for pharmacogenomics at St. Jude as well as their integration into clinical care, which has saved children from chemotherapy-related toxicities and death. Read her full bio. Read her full bio.

Interview with Mary Relling, St. Jude Children’s Research Hospital, Chair of the Precision Pharmacotherapy

Q: One of the major barriers to implementing pharmacogenetic results into routine clinical care had been the lack of clinical guidance on how to use genetic test results to adjust the use or dose of medications. What has the Clinical Pharmacogenetics Implementation Consortium (CPIC) been doing to remove this barrier?

A: CPIC writes peer-reviewed, freely-available, updatable gene/drug pair specific guidelines, with accompanying 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.

Q: You recently published an editorial in the Journal of the American College of Clinical Pharmacy, calling for an end to pharmacogenetic exceptionalism. Can you please expand on the subject?

A: Pharmacogenetics is not the only patient characteristic that should be accounted for when making prescribing decisions for patients. Although we need excellent computational clinical decision support to implement pharmacogenetics in the clinic, we need that same computational CDS to support using characteristics such as age, renal function, liver function, drug interactions, disease status, etc. Prescribing can be improved by considering all patient characteristics, and all prescribing suffers because of our poor health care systems with minimal computational support and almost no generalizability.

Q: What are the benefits and the challenges of implementing preemptive pharmacogenomics versus reactive genotyping in clinical practice?

A: Preemptive testing is cheaper and ensures results will be available at time of prescribing decisions.