Variability Between Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines and a Commercial Pharmacogenetics Laboratory in Genotype to Phenotype Interpretations For Patients Utilizing Psychotropics

Front Pharmacol. 2022 Jun 24:13:939313. doi: 10.3389/fphar.2022.939313. eCollection 2022.


Clinical practice environments without in-house pharmacogenetic testing often rely on commercial laboratories, especially in the setting of pharmacogenetic testing intended to guide psychotropic use. There are occasionally differences in phenotype assignment and medication recommendations between commercial laboratories and the Clinical Pharmacogenetics Implementation Consortium (CPIC). This may be problematic as many institutions that implement pharmacogenetics consider CPIC to be an important source of guidelines for recommended prescribing actions based on genetics, as well as a tool towards standardizing pharmacogenetics implementation. Here, we completed a retrospective chart review of our academic health system's (Michigan Medicine) electronic health record with the goal of comparing phenotypic assignment of CYP2D6 and CYP2C19 genotypes between the commercial pharmacogenetic lab used most at our institution, and CPIC. Ultimately, we identified 205 patients with available pharmacogenetic results from this lab. The prevalence of conflicting phenotype assignment was 28.8% for CYP2D6 and 32.2% for CYP2C19 genotypes when comparing the commercial lab to CPIC guidelines. In several cases, the phenotypic assignment differences for antidepressants led to significant differences in medication recommendations when comparing the commercial lab report and CPIC guidelines. These results may also have implications for medications outside of psychiatry with recommendations for dose adjustments based on CYP2D6 or CYP2C19 metabolizing phenotype.

Keywords: cytochrome P-450 CYP2C19; cytochrome P-450 CYP2D6; genotype; pharmacogenomics; phenotype; psychotropics; star allele.