Building the evidentiary framework for pharmacogenetic testing: is it time to move beyond randomized controlled trials?

Abstract

There is a rapidly expanding evidentiary gap between new molecular markers predictive of drug response and data that supports using such molecular markers (e.g., DNA, RNA or smallmolecule-based tests) in clinical practice. This evidence gap is a barrier to realizing the promise of personalized medicine where treatments are tailored to a patient’s individual characteristics. Randomized controlled trials (RCTs) are the ‘gold-standard’ metric for establishing the evidence that a particular intervention is superior to the current standard of care. However, the RCT is not without limitations and may not be the appropriate level of evidence required to support the clinical use of pharmacogenomic testing. We live in an environment where it is impractical to expect a RCT for each new marker. We should not abandon evidence-based practices when deciding to use a new pharmaco genomic marker; instead, clinicians and researchers must decide the appropriate level of evidence, short of the RCT, that supports the use of a novel pharmacogenomic marker in clinical care.