Interview with Honoree Mary Relling, PMWC Duke 2018 Luminary Honoree

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 indentification 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. Read her full bio.

Interview with Honoree Mary Relling, PMWC Duke 2018 Luminary Honoree

Q: Why is preemptive pharmacogenetics testing important in the context of personalized medicine?

A: We estimated that pharmacogenetic test results can impact the use of nearly 100 drugs, accounting for up to 18% of current prescriptions. Therefore, having pharmacogenetic test results already “in hand” at the time of prescribing will be more convenient for patients and physicians compared to performing as needed, one gene-at-a-time testing, which will be slower and more expensive. Pharmacogenetic test information can be treated as any other patient characteristics (weight, age, past medical history, liver function, renal function) that can inform prescribing, so it would be optimally available preemptively. Because genetic make-up doesn’t change as the patient ages, such testing could be performed early and possibly just once in a patient’s lifetime.

Q: How large an impact could it have on patients?

A: Almost all patients have a high risk genotype for at least one pharmacogene. For those patients with a high risk genotype who are prescribed a high-risk drug, the impact is large, in that they are likely to have fewer adverse effects and a higher chance of responding to the affected medications.

Q: You have recently led the establishment and publication of guidelines for 35 different drugs to encourage the implementation of pharmacogenetics in the clinic. How widespread is genetic testing for personalizing prescriptions currently?

A: Genetic testing for personalizing prescriptions is still very rare. One estimate is that less than 1.5% of prescriptions for high-risk drugs were accompanied by genetic testing at a large US health system. At St. Jude, we have been doing it for our patients since 2011.

Q: What else needs to be done to make its uptake in the clinic more robust?

A: We need to continue to update and generate gene/drug pair guidelines within CPIC (the Clinical Pharmacogenetics Implementation Consortium), and continue to work with external groups to educate clinicians and disseminate guidelines. We need health care records that support using genetic test results across all health care settings (inpatient, outpatient, clinics) and cross state lines. Having a comprehensive rather than siloed approach to health care, along with incentives to prevent health care problems rather than just treat them, would also be helpful.