Molecular Dx Significance 6/10

Preemptive Pharmacogenomic Testing Shows Clinical Benefit When Linked to EHR Decision Support

This review from Vanderbilt evaluates the rationale and early evidence for preemptive multi-gene pharmacogenomic testing archived in electronic health records for use at the point of prescribing. Programmes like PREDICT and eMERGE demonstrated feasibility and initial clinical benefit, though definitive outcome data were still emerging. For clinical laboratories, the paper outlines the infrastructure requirements for panel-based PGx testing integrated with CDS systems.

The original study

Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome.

Authors
Roden DM, Van Driest SL, Mosley JD, Wells QS, Robinson JR, Denny JC, et al.
Journal
Clinical pharmacology and therapeutics
Type
Journal Article, Research Support, N.I.H., Extramural, Review
PMID
29377064
Read the original study →

Original abstract

The development of new knowledge around the genetic determinants of variable drug action has naturally raised the question of how this new knowledge can be used to improve the outcome of drug therapy. Two broad approaches have been taken: a point-of-care approach in which genotyping for specific variant(s) is undertaken at the time of drug prescription, and a preemptive approach in which multiple genetic variants are typed in an individual patient and the information archived for later use when a drug with a "pharmacogenetic story" is prescribed. This review addresses the current state of implementation, the rationale for these approaches, and barriers that must be overcome. Benefits to pharmacogenetic testing are only now being defined and will be discussed.