Genotype-guided pharmacotherapy: the challenges of integrating pharmacogenomic testing into routine healthcare with a...

Pharmacogenetic (PGx) testing remains widely underutilized despite strong evidence of genetic contributions to drug response and the availability of guidelines for integrating results into prescribing decisions. Challenges hindering PGx implementation include concerns about test reimbursement, knowledge gaps among patients and providers, and difficulty with effectively incorporating PGx data into the electronic health record (EHR). Our institution was an early adopter of PGx testing, with testing and clinical decision support available to guide multiple drug therapies, including clopidogrel, antidepressants, tacrolimus, and fluoropyrimidines.

This paper describes challenges our team and others have faced with PGx implementation and how we have addressed challenges common across implementations and those unique to specific gene-drug pairs.

While we have demonstrated feasible solutions to overcome many implementation challenges, several key obstacles remain, including limited reimbursement for PGx testing as well as for pharmacist time in providing PGx consultations, challenges with EHR integration and portability of results, and demands for outcomes data. We anticipate broader implementation with legislative efforts to support reimbursement for testing and consultation. EHR vendors are also taking steps to better handle PGx data. Addressing genetic exceptionalism is particularly challenging but ultimately important for broad acceptance of PGx testing.